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39 results on '"MESH: Karyotyping"'

1. Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings

Author

Alice Goldenberg, Gaël Nicolas, Maud Blanluet, Sandra Chantot-Bastaraud, Gabriella Vera, Boris Keren, Géraldine Joly-Helas, Thierry Frebourg, Didier Hannequin, Jean-Pierre Siffroi, Kévin Cassinari, Nathalie Le Meur, Bertrand Mace, Pascal Chambon, Couvet, Sandrine, UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), UF de Génétique chromosomique [CHU Trousseau], CHU Trousseau [APHP], Service de Génétique médicale [CHU Pitié-Salpêtrière], and CHU Pitié-Salpêtrière [AP-HP]

Subjects
MESH: Abnormalities, Multiple, MESH: Chromosome Deletion, [SDV]Life Sciences [q-bio], MESH: Chromosomes, Human, Pair 2, Chromosomal translocation, Chromosomal rearrangement, postzygotic, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, MESH: Cervical Vertebrae, Germline, MESH: Intellectual Disability, MESH: Uniparental Disomy, Gene duplication, Genetics, medicine, MESH: In Situ Hybridization, Fluorescence, Genetics (clinical), MESH: Humans, medicine.diagnostic_test, MESH: Genetic Predisposition to Disease, MESH: Scoliosis, Chromosome, Karyotype, MESH: Male, MESH: Translocation, Genetic, MESH: Siblings, [SDV] Life Sciences [q-bio], MESH: Karyotyping, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Uniparental Isodisomy, rescue, unbalanced translocation, MESH: Chromosome Banding, MESH: Chromosomes, mosaic, MESH: Mosaicism, MESH: Kyphosis, MESH: Chromosomes, Human, Pair 11, MESH: Female, Fluorescence in situ hybridization
Abstract

Balanced translocations are associated with a risk of transmission of unbalanced chromosomal rearrangements in the offspring. Such inherited chromosomal abnormalities are typically non-mosaic as they are present in the germline. We report the recurrence in two siblings of a mosaicism for a chromosomal rearrangement inherited from their asymptomatic father who carried a balanced t(2;11)(q35;q25) translocation. Both siblings exhibited a similar phenotype including intellectual disability, dysmorphic features, kyphoscoliosis, and cervical spinal stenosis. Karyotyping, fluorescence in situ hybridization and SNP array analysis of blood lymphocytes of both siblings identified two cell lines: one carrying a 2q35q37.3 duplication and a 11q25qter deletion (~90% cells), and one carrying an 11q uniparental isodisomy of maternal origin (~10% cells). We hypothesize that these mosaics were related to a postzygotic rescue mechanism which unexpectedly recurred in both siblings.

Published
2021

2. Meiotic Behavior of Achiasmate Sex Chromosomes in the African Pygmy Mouse Mus mattheyi Offers New Insights into the Evolution of Sex Chromosome Pairing and Segregation in Mammals

Author

Ana Gil-Fernández, Marta Martín-Ruiz, Frédéric Veyrunes, Alberto Viera, Tamara Laguna, María Teresa Parra, Rocío Gómez, Pablo López-Jiménez, Marta Ribagorda, Jesús Page, Institut des Sciences de l'Evolution de Montpellier (UMR ISEM), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université de Montpellier (UM)-Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Centre National de la Recherche Scientifique (CNRS)-Institut de recherche pour le développement [IRD] : UR226, UAM. Departamento de Biología, Universidad Autónoma de Madrid (UAM), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université de Montpellier (UM)-Institut de recherche pour le développement [IRD] : UR226-Centre National de la Recherche Scientifique (CNRS), This research was funded by Grant CGL2014-53106-P from Ministerio de Economía yCompetitividad (Spain), French National Research Agency (ANR grant SEXREV 18-CE02-0018-01),Del Duca Foundation from the Institut de France ('subvention scientifique'). A.G.-F. was supportedby a predoctoral fellowship from the Ministerio de Economía y Competitividad (Spain) and theEuropean Social Fund (European Commission). M.R. was supported by a postgraduate grant fromDepartamento de Biología, Universidad Autónoma de Madrid (Spain)., and ANR-18-CE02-0018,SEXREV,Ménage à trois: un troisième chromosome sexuel féminisant. Conséquences évolutives et implications pour la génétique du déterminisme du sexe chez les mammifères(2018)

Subjects
Male, pygmy mouse, Pseudoautosomal region, Mus mattheyi, QH426-470, Mice, 0302 clinical medicine, Chromosome Segregation, meiosis, MESH: Animals, MESH: Chromosome Segregation / genetics, MESH: Evolution, Molecular, Genetics (clinical), Mammals, 0303 health sciences, Sex Chromosomes, Synapsis, MESH: Karyotype, MESH: Chromosome Pairing / genetics, Biología y Biomedicina / Biología, Meiosis, Female, Karyotype, Biology, Y chromosome, Evolution, Molecular, 03 medical and health sciences, evolution, Genetics, Animals, MESH: Mice, Metaphase, 030304 developmental biology, MESH: Sex Chromosomes / physiology, Autosome, sex chromosomes, Chromosome, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, MESH: Meiosis / genetics, MESH: Mammals / genetics, MESH: Male, Synaptonemal complex assembly, Chromosome Pairing, MESH: Karyotyping, Evolutionary biology, Karyotyping, MESH: Female, 030217 neurology & neurosurgery
Abstract

International audience; X and Y chromosomes in mammals are different in size and gene content due to an evolutionary process of differentiation and degeneration of the Y chromosome. Nevertheless, these chromosomes usually share a small region of homology, the pseudoautosomal region (PAR), which allows them to perform a partial synapsis and undergo reciprocal recombination during meiosis, which ensures their segregation. However, in some mammalian species the PAR has been lost, which challenges the pairing and segregation of sex chromosomes in meiosis. The African pygmy mouse Mus mattheyi shows completely differentiated sex chromosomes, representing an uncommon evolutionary situation among mouse species. We have performed a detailed analysis of the location of proteins involved in synaptonemal complex assembly (SYCP3), recombination (RPA, RAD51 and MLH1) and sex chromosome inactivation (γH2AX) in this species. We found that neither synapsis nor chiasmata are found between sex chromosomes and their pairing is notably delayed compared to autosomes. Interestingly, the Y chromosome only incorporates RPA and RAD51 in a reduced fraction of spermatocytes, indicating a particular DNA repair dynamic on this chromosome. The analysis of segregation revealed that sex chromosomes are associated until metaphase-I just by a chromatin contact. Unexpectedly, both sex chromosomes remain labelled with γH2AX during first meiotic division. This chromatin contact is probably enough to maintain sex chromosome association up to anaphase-I and, therefore, could be relevant to ensure their reductional segregation. The results presented suggest that the regulation of both DNA repair and epigenetic modifications in the sex chromosomes can have a great impact on the divergence of sex chromosomes and their proper transmission, widening our understanding on the relationship between meiosis and the evolution of sex chromosomes in mammals.

Published
2021
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3. Chromosomal abnormalities in 163 Tunisian couples with recurrent miscarriages

Author

Islem Messaoudi, Zouhour Belghith, Nabila Abidli, Imen Chemkhi, Wajih Hammami, Helmy Guermani, Wiem Ayed, Rim Obay, Ahlem Amouri, Département d'Histologie et de Cytogénétique - Institut Pasteur de Tunis, Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Faculté de Médecine de Tunis, Université de Tunis El Manar (UTM), Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory (LR11IPT05), and Université de Tunis El Manar (UTM)-Institut Pasteur de Tunis

Subjects
Male, [SDV]Life Sciences [q-bio], Aneuploidy, Chromosome Disorders, Chromosomal translocation, medicine.disease_cause, Translocation, Genetic, Cohort Studies, 0302 clinical medicine, MESH: Pregnancy, Pregnancy, Recurrent miscarriage, Prevalence, Case Series, MESH: Cohort Studies, MESH: Chromosome Disorders, 030219 obstetrics & reproductive medicine, MESH: Abortion, Habitual, Karyotype, General Medicine, MESH: Translocation, Genetic, 3. Good health, Cytogenetic Analysis, Female, 030211 gastroenterology & hepatology, Recurrent miscarriage, chromosomal abnormalities, karyotype, MESH: Tunisia, Adult, Abortion, Habitual, medicine.medical_specialty, Tunisia, Robertsonian translocation, 03 medical and health sciences, medicine, Humans, MESH: Chromosome Aberrations, MESH: Prevalence, Chromosome Aberrations, Gynecology, MESH: Humans, business.industry, MESH: Cytogenetic Analysis, Chromosome, MESH: Adult, medicine.disease, MESH: Male, karyotype, chromosomal abnormalities, MESH: Karyotyping, Karyotyping, Etiology, business, MESH: Female
Abstract

International audience; Recurrent miscarriage (RM) is defined as three or more consecutive pregnancy losses before 24 weeks of gestation. Parental chromosomal abnormalities represent an important etiology of RM. The aim of the present study was to identify the distribution of chromosome abnormalities among Tunisian couples with RM referred to the Department of Cytogenetic at the Pasteur Institute of Tunis (Tunisia) during the last five years. Standard cytogenetic analysis was carried out in a total of 163 couples presenting with two or more spontaneous abortions. Karyotypes were analyzed by R-banding. We identified 14 chromosomal abnormalities including autosomal reciprocal translocation, Robertsonian translocation, inversion, mosaic aneuploidy and heteromorphysm. The overall prevalence of chromosomal abnormalities was 8.5% in our cohort. This finding underlies the importance of cytogenetic investigations in the routine management of RM.

Published
2017

4. 45,X/46,XX mosaicism below 30% of aneuploidy: clinical implications in adult women from a reproductive medicine unit

Author

L. Homer, M. De Braekeleer, V. Amice, Frédéric Morel, M. Collet, M-T Le Martelot, V. Kerlan, Service de Gynécologie-Obstétrique (BREST - Gynéco-Obs), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Laboratoire de cytogénétique [Brest], Centre Hospitalier Régional Universitaire de Brest (CHRU Brest)-Hôpital Morvan [Brest], Groupe d'Etude de la Thrombose de Bretagne Occidentale (GETBO), Université de Brest (UBO)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO), and Service d'Endocrinologie (CHRU - Endocrino)

Subjects
MESH: Chi-Square Distribution, MESH: Abortion, Spontaneous, [SDV]Life Sciences [q-bio], Endocrinology, Diabetes and Metabolism, Thyrotropin, Turner Syndrome, Aneuploidy, Body Mass Index, 0302 clinical medicine, Endocrinology, MESH: Follicle Stimulating Hormone, 2. Zero hunger, 0303 health sciences, 030219 obstetrics & reproductive medicine, Estradiol, MESH: Infertility, Female, Mosaicism, Karyotype, General Medicine, 3. Good health, MESH: Menarche, MESH: Thyrotropin, Menarche, Female, MESH: Mosaicism, MESH: Estradiol, Infertility, Female, Adult, Infertility, medicine.medical_specialty, MESH: Turner Syndrome, Reproductive medicine, Biology, MESH: Body Mass Index, MESH: Chromosomes, Human, X, 03 medical and health sciences, MESH: Luteinizing Hormone, MESH: Analysis of Variance, MESH: Body Height, Internal medicine, MESH: Aneuploidy, medicine, Humans, Inhibins, Retrospective Studies, 030304 developmental biology, Gynecology, Analysis of Variance, Chromosomes, Human, X, Chi-Square Distribution, MESH: Humans, Cytogenetics, MESH: Adult, MESH: Retrospective Studies, Luteinizing Hormone, MESH: Inhibins, medicine.disease, Body Height, Abortion, Spontaneous, MESH: Karyotyping, Karyotyping, Follicle Stimulating Hormone, MESH: Female, Body mass index, Chi-squared distribution
Abstract

ObjectiveTurner's syndrome (TS) is well known, but prognosis for 45,X/46,XX mosaicism below 30% of aneuploidy has not been established. We evaluated differences in clinical features and biological parameters between patients with numerical sex chromosome mosaicism diagnosed incidentally and control women.DesignRetrospective observational study of clinical features and biological parameters.MethodsStandard endocrinological and gynecological examination was done and early-follicular-phase blood values were collected from the medical records of women aged 21–43, who were referred to our ward from 1996 to 2006 because of infertility and were karyotyped. Seventy-one women with sex chromosome mosaicism (45,X/46,XX) ranging from 4 to 28% were assigned a chromosomally normal woman (46,XX) matched according to age (n=71).ResultsIn group 45,X/46,XX, 8% or more of aneuploidy accounted for a smaller height compared to controls (P=0.01). Body mass index was increased from 6% of aneuploidy (P=0.02) and was positively correlated to the percentage of 45,X cells (P=0.0001); menarche occurred earlier from 10% of aneuploidy (P=0.01) and was inversely correlated to the percentage of 45,X cells (P=0.045). No difference was found between the groups for FSH, LH, estradiol, inhibin B, and TSH values. Spontaneous abortions were more frequent in case of mosaicism (P=0.01), and recurrence was positively correlated to the percentage of aneuploidy (P=0.008).ConclusionSex chromosome mosaicism is responsible for clinical changes from 6% of aneuploidy, corresponding to the main phenotypical features of TS.

Published
2010

5. Reversible lymph node follicular hyperplasia associated with dasatinib treatment of chronic myeloid leukemia in chronic phase

Author

Catherine Chassagne-Clément, Philippe Rousselot, Isabelle Tigaud, Luigina Mollica, Françoise Berger, Michel Tulliez, Laurence Legros, Delphine Rea, Stéphane Giraudier, Ali G. Turhan, Clémence Roux, Mathilde Niault, Franck-Emmanuel Nicolini, Institut de Biologie Valrose (IBV), Université Nice Sophia Antipolis (... - 2019) (UNS), and COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA)

Subjects
Dasatinib, MESH: Lymph Nodes, Biochemistry, Lymphoid hyperplasia, Tyrosine-kinase inhibitor, 0302 clinical medicine, hemic and lymphatic diseases, MESH: Protein Kinase Inhibitors, Lymph node, [SDV.BDD]Life Sciences [q-bio]/Development Biology, ComputingMilieux_MISCELLANEOUS, MESH: Aged, 0303 health sciences, music.instrument, MESH: Middle Aged, Drug Substitution, Myeloid leukemia, Hematology, Middle Aged, Follicular hyperplasia, 3. Good health, Leukemia, medicine.anatomical_structure, 030220 oncology & carcinogenesis, medicine.symptom, medicine.drug, Adult, medicine.drug_class, Immunology, MESH: Thiazoles, Antineoplastic Agents, MESH: Drug Administration Schedule, Drug Administration Schedule, 03 medical and health sciences, Myelogenous, Leukemia, Myelogenous, Chronic, BCR-ABL Positive, medicine, Humans, music, Protein Kinase Inhibitors, Aged, 030304 developmental biology, Hyperplasia, MESH: Humans, MESH: Hyperplasia, business.industry, MESH: Chronic Disease, MESH: Adult, Cell Biology, medicine.disease, MESH: Drug Substitution, Thiazoles, Pyrimidines, MESH: Karyotyping, MESH: Leukemia, Myelogenous, Chronic, BCR-ABL Positive, Karyotyping, MESH: Pyrimidines, Chronic Disease, Cancer research, MESH: Antineoplastic Agents, Lymph Nodes, business
Abstract

To the editor: Dasatinib is a tyrosine kinase inhibitor licensed in the treatment of chronic myeloid leukemia (CML) known to exert immunomodulatory effects in vitro and in vivo.[1][1] We report on 9 chronic phase CML patients who developed follicular lymphoid hyperplasia (FLH) apparently caused by

Published
2013

6. Spraguea lophii (Microsporidia) parasite of the teleost fish, Lophius piscatorius from Tunisian coasts: evidence for an extensive chromosome length polymorphism

Author

Christian P. Vivarès, Oum Kalthoum Ben Hassine, Emmanuel Cornillot, Lamjed Mansour, Laboratoire Microorganismes : Génome et Environnement (LMGE), Université Blaise Pascal - Clermont-Ferrand 2 (UBP)-Centre National de la Recherche Scientifique (CNRS)-Université d'Auvergne - Clermont-Ferrand I (UdA), and Université Blaise Pascal - Clermont-Ferrand 2 (UBP)-Université d'Auvergne - Clermont-Ferrand I (UdA)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Tunisia, MESH: Mediterranean Sea, [SDV]Life Sciences [q-bio], Molecular Sequence Data, MESH: Sequence Alignment, MESH: Apansporoblastina, Biology, DNA, Ribosomal, MESH: Sequence Homology, Nucleic Acid, 030308 mycology & parasitology, 03 medical and health sciences, Phylogenetics, Sequence Homology, Nucleic Acid, MESH: Polymorphism, Genetic, Mediterranean Sea, Pulsed-field gel electrophoresis, Animals, Parasite hosting, MESH: Animals, 14. Life underwater, MESH: Phylogeny, Genome size, Gene, Phylogeny, 030304 developmental biology, Genetics, 0303 health sciences, Polymorphism, Genetic, MESH: DNA, Ribosomal, MESH: Molecular Sequence Data, Fishes, Karyotype, biology.organism_classification, MESH: Chromosomes, Fungal, Electrophoresis, Gel, Pulsed-Field, Lophius, Infectious Diseases, MESH: Electrophoresis, Gel, Pulsed-Field, MESH: Fishes, MESH: Karyotyping, Karyotyping, Microsporidia, Parasitology, Apansporoblastina, Chromosomes, Fungal, MESH: Tunisia, Sequence Alignment
Abstract

International audience; A microsporidian of the genus Spraguea was found parasitizing the nervous tissues of Lophius piscatorius collected from various localities in the Mediterranean coastal areas of Tunisia. The tissue localization, the infection focus aspect and sporal dimorphism are characteristics of Spraguea lophii species. Molecular data based on partial sequence of SSUrRNA encoding gene shows few nucleotide polymorphisms, compared to all described Spraguea isolates. Molecular karyotype obtained on pulsed field gel electrophoresis (1D-PFGE) shows a profile with 14 stained bands in the range of 230-880 kbp and a genome size estimated to 6.700 kbp. The rare cutter endonuclease MluI KARD 2-D-PFGE fingerprint shows an extensive chromosome length polymorphism, but the number of chromosome is unchanged and consists of 15 different molecules. The extensive chromosome length polymorphism is associated to a reduced number of genetic events.

Published
2013

7. Classifying cytogenetics in patients with acute myelogenous leukemia in complete remission undergoing allogeneic transplantation: a Center for International Blood and Marrow Transplant Research study

Author

Martin Bornhäuser, Donald Bunjes, Jean-Yves Cahn, Mark R. Litzow, Corey Cutler, Ann A. Jakubowski, David I. Marks, Robert J. Soiffer, Luis Isola, Philippe Armand, Jorge Sierra, Waleska S. Pérez, Hillard M. Lazarus, Daniel J. Weisdorf, Jürgen Finke, Vikas Gupta, Mei-Jie Zhang, Keith Stockerl-Goldstein, Steven M. Devine, Chadi Nabhan, Mitchell S. Cairo, Edward D. Ball, Bruce M. Camitta, Mahmoud Aljurf, Haesook T. Kim, Jacob M. Rowe, Bipin N. Savani, Christopher Bredeson, Paolo Bartolomeo, Paola Dal Cin, Victor Lewis, Effie W. Petersdorf, Richard T. Maziarz, M. Lynn Savoie, Joseph H. Antin, Joerg Halter, Harry C. Schouten, Edmund K. Waller, Philip L. McCarthy, Patrick J. Stiff, Alan M. Miller, Andrew S. Artz, Jane L. Liesveld, Thomas R. Klumpp, Medical College of Wisconsin, Division of Haematology, University of Toronto-Princess Margaret Hospital, University of Toronto, TheREx, Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525 (TIMC-IMAG), VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF)-Hematology, Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble-CHU Grenoble, Dipartimento di Ematologia, Unità di Terapia Intensiva Ematologica per il Trapianto Emopoietico, University Hospital Basel [Basel], University Hospital Carl Gustav Carus, Technische Universität Dresden = Dresden University of Technology (TU Dresden), Interne Geneeskunde, and RS: GROW - School for Oncology and Reproduction

Subjects
Oncology, Male, Myeloid, medicine.medical_treatment, Abnormal Karyotype, Hematopoietic stem cell transplantation, 0302 clinical medicine, AML, hemic and lymphatic diseases, MESH: Aged, MESH: Middle Aged, Hematopoietic Stem Cell Transplantation, Hematology, Middle Aged, 3. Good health, Survival Rate, Leukemia, Leukemia, Myeloid, Acute, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Female, MESH: Abnormal Karyotype, MESH: Leukemia, Myeloid, Acute, Adult, medicine.medical_specialty, Allogeneic transplantation, Adolescent, MESH: Survival Rate, Karyotype, [SDV.CAN]Life Sciences [q-bio]/Cancer, Disease-Free Survival, 03 medical and health sciences, Myelogenous, Internal medicine, medicine, MESH: Transplantation, Homologous, Humans, Transplantation, Homologous, Survival rate, MESH: Hematopoietic Stem Cell Transplantation, Aged, Retrospective Studies, MESH: Adolescent, Transplantation, MESH: Humans, business.industry, Retrospective cohort study, MESH: Retrospective Studies, MESH: Adult, medicine.disease, MESH: Male, Surgery, MESH: Karyotyping, Karyotyping, MESH: Disease-Free Survival, business, MESH: Female, 030215 immunology, SCT
Abstract

Cytogenetics play a major role in determining the prognosis of patients with acute myelogenous leukemia (AML). However, existing cytogenetics classifications were developed in chemotherapy-treated patients and might not be optimal for patients undergoing allogeneic hematopoietic cell transplantation (HCT). We studied 821 adult patients reported to the Center for International Blood and Marrow Transplant Research (CIBMTR) who underwent HCT for AML in first or second complete remission between 1999 and 2004. We compared the ability of the 6 existing classifications to stratify patients by overall survival. We then defined a new scheme specifically applicable to patients undergoing HCT using this patient cohort. Under this scheme, inv(16) is favorable, a complex karyotype (4 or more abnormalities) is adverse, and all other classified abnormalities are intermediate in predicting survival after HCT (5-year overall survival, 64%, 18%, and 50%, respectively; P = .0001). This scheme stratifies patients into 3 groups with similar nonrelapse mortality, but significantly different incidences of relapse, overall and leukemia-free survival. It applies to patients regardless of disease status (first or second complete remission), donor type (matched related or unrelated), or conditioning intensity (myeloablative or reduced intensity). This transplantation-specific classification could be adopted for prognostication purposes and to stratify patients with AML and karyotypic abnormalities entering HCT clinical trials. American Society for Blood and Marrow Transplantation.

Published
2012

8. Syndrome de Klinefelter : qualité des gamètes et spermatogenèse. [Klinefelter syndrome: spermatogenesis and quality of gametes]

Author

Ravel, Célia, Chantot-Bastaraud, Sandra, Cretet, J., Roynard, Patricia, Sibony, Mathilde, Maurin, Nicole, Belaud-Rotureau, Marc-Antoine, Berthaut, Isabelle, CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Génétique du Développement humain - Human developmental genetics, Institut Pasteur [Paris] (IP), Service de génétique et embryologie médicales [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service d'Anatomie et cytologie pathologiques [CHU Tenon], CHU Saint-Antoine [AP-HP], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS), Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes (UR)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], De Villemeur, Hervé, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Génétique du développement humain, Institut Pasteur [Paris], Service d'anatomie pathologique [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Université de Rennes 1 (UR1), and Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes]

Subjects
MESH: Humans, MESH: Klinefelter Syndrome, MESH: Spermatozoa, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, MESH: Infertility, Male, [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, MESH: Male, [SDV.MHEP.GEO] Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, Klinefelter Syndrome, Fertility, MESH: Karyotyping, [SDV.BDD] Life Sciences [q-bio]/Development Biology, MESH: Chromosome Aberrations, Spermatogenesis, MESH: Spermatogenesis, [SDV.BDD]Life Sciences [q-bio]/Development Biology, [SDV.BDLR] Life Sciences [q-bio]/Reproductive Biology, MESH: Sperm Injections, Intracytoplasmic
Abstract

International audience; Klinefelter syndrome is defined by the presence of a supernumerary X chromosome in a phenotypic male. It is the most frequent gonosomic anomaly in infertile men with an incidence of 0.1 to 0.2% in newborn males. The presence of an additional X chromosome induces spermatogenic failure but when gametes are present, they are usually normal. The risk of transmission of the chromosomal anomaly remains low. In the literature, only one 47,XXY foetus resulting from more than a hundred births from fathers with Klinefelter syndrome, has been reported. One can estimate, that a TESE performed in half of the patients with non-mosaic 47,XXY will be positive and may enable IVF/ICSI to be achieved.

Published
2011

9. Minimally differentiated acute myeloid leukemia (FAB AML-M0): prognostic factors and treatment effects on survival--a retrospective study of 42 adult cases

Author

Xavier Thomas, Mauricette Michallet, Lauren Rigollet, Alice Gougounon, Youcef Chelghoum, Adriana Plesa, Isabelle Tigaud, Halima Abahssain, Mohamed Elhamri, Charles Dumontet, Hematology Laboratory, Hospices Civils de Lyon, Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Service d'hématologie [Hôpital Edouard Herriot - HCL], Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), and Hospices Civils de Lyon (HCL)

Subjects
Male, Oncology, Cancer Research, medicine.medical_treatment, 0302 clinical medicine, Immunophenotyping, Antineoplastic Combined Chemotherapy Protocols, MESH: Cytarabine, Anthracyclines, MESH: Anthracyclines, MESH: Treatment Outcome, MESH: Aged, 0303 health sciences, MESH: Middle Aged, Cytarabine, Myeloid leukemia, Cell Differentiation, Hematology, MESH: Follow-Up Studies, Middle Aged, 3. Good health, Survival Rate, Leukemia, Myeloid, Acute, MESH: Antineoplastic Combined Chemotherapy Protocols, Treatment Outcome, MESH: Young Adult, 030220 oncology & carcinogenesis, Female, MESH: Leukemia, Myeloid, Acute, medicine.drug, Adult, MESH: Cell Differentiation, medicine.medical_specialty, Anthracycline, MESH: Survival Rate, MESH: Immunophenotyping, [SDV.CAN]Life Sciences [q-bio]/Cancer, Young Adult, 03 medical and health sciences, Internal medicine, medicine, Humans, Survival rate, Aged, Retrospective Studies, 030304 developmental biology, Chemotherapy, MESH: Humans, business.industry, Induction chemotherapy, Retrospective cohort study, MESH: Adult, MESH: Retrospective Studies, MESH: Male, Surgery, MESH: Karyotyping, Karyotyping, business, MESH: Female, Follow-Up Studies
Abstract

International audience; Data from 42 adult patients with newly diagnosed minimally differentiated (M0) acute myeloid leukemia (AML) were reported. Clinical and biological characteristics at diagnosis were heterogenous. All patients received induction chemotherapy combining an anthracycline with cytarabine. Complete remission (CR) was achieved in 22 cases (52%). Most patients received continuation chemotherapy. Median disease-free survival (DFS) was 13.6 months with a 2-year survival rate of 28%. As post-remission therapy, 7 patients could be allografted and showed an encouraging outcome. Overall, 14 patients have relapsed (63%) after a median time of 10.2 months. Median overall survival (OS) was 20.5 months with a 5-year survival rate of 18%. This retrospective analysis points to a somewhat heterogenous group of AML in terms of biological features and outcome, and warrants a larger multicenter study with study in molecular biology to clarify treatment effects further.

Published
2011

10. Ancestral grass karyotype reconstruction unravels new mechanisms of genome shuffling as a source of plant evolution

Author

Jian-Hong Xu, Florent Murat, Nicolas Guilhot, Jérôme Salse, Eric Tannier, Caroline Pont, Michael Abrouk, Joachim Messing, Génétique Diversité et Ecophysiologie des Céréales (GDEC), Institut National de la Recherche Agronomique (INRA)-Université Blaise Pascal - Clermont-Ferrand 2 (UBP), The Plant Genome Initiative at Rutgers (PGIR), Rutgers University [Camden], Rutgers University System (Rutgers)-Rutgers University System (Rutgers), Artificial Evolution and Computational Biology (BEAGLE), Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Inria Grenoble - Rhône-Alpes, Institut National de Recherche en Informatique et en Automatique (Inria)-Laboratoire d'InfoRmatique en Image et Systèmes d'information (LIRIS), Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-École Centrale de Lyon (ECL), Université de Lyon-Université Lumière - Lyon 2 (UL2)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Centre National de la Recherche Scientifique (CNRS)-École Centrale de Lyon (ECL), Université de Lyon-Université Lumière - Lyon 2 (UL2), Bioinformatique, phylogénie et génomique évolutive (BPGE), Département PEGASE [LBBE] (PEGASE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Agence Nationale de la Recherche [ANR-09-JCJC-0058-01], Cogebi [ANR-08-GENM-036-01], Selman A. Waksman Chair in Molecular Genetics, Rutgers University, Université Lumière - Lyon 2 (UL2)-École Centrale de Lyon (ECL), Université de Lyon-Université de Lyon-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université Lumière - Lyon 2 (UL2)-École Centrale de Lyon (ECL), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA), Laboratoire d'InfoRmatique en Image et Systèmes d'information (LIRIS), Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Centre National de la Recherche Scientifique (CNRS)-Université Lumière - Lyon 2 (UL2)-École Centrale de Lyon (ECL), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Centre National de la Recherche Scientifique (CNRS)-Inria Grenoble - Rhône-Alpes, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), and Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Centre National de la Recherche Scientifique (CNRS)-École Centrale de Lyon (ECL)

Subjects
0106 biological sciences, MESH: Genome, Plant, COMPARATIVE MAP, MESH: Zea mays, 01 natural sciences, Genome, CENTROMERE, MESH: Sorghum, DUPLICATIONS, POLYPLOWHEAT, MESH: Chromosomes, Plant, MESH: Phylogeny, Phylogeny, Genetics (clinical), MESH: Evolution, Molecular, Recombination, Genetic, 2. Zero hunger, Genetics, Plant evolution, 0303 health sciences, CHROMOSOME EVOLUTION, food and beverages, Karyotype, MESH: Synteny, MESH: Oryza sativa, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], Brachypodium, MESH: Recombination, Genetic, Genome, Plant, Genome evolution, Genetic Speciation, Genomics, ORGANIZATION, Biology, Poaceae, Models, Biological, Synteny, Zea mays, SEQUENCE, Chromosomes, Plant, Evolution, Molecular, 03 medical and health sciences, MESH: Poaceae, Phylogenetics, RICE, Sorghum, 030304 developmental biology, MESH: Genetic Speciation, MAIZE GENOME, Research, MESH: Models, Biological, Oryza, biology.organism_classification, GENE, MESH: Brachypodium, MESH: Karyotyping, Karyotyping, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], 010606 plant biology & botany
Abstract

The comparison of the chromosome numbers of today's species with common reconstructed paleo-ancestors has led to intense speculation of how chromosomes have been rearranged over time in mammals. However, similar studies in plants with respect to genome evolution as well as molecular mechanisms leading to mosaic synteny blocks have been lacking due to relevant examples of evolutionary zooms from genomic sequences. Such studies require genomes of species that belong to the same family but are diverged to fall into different subfamilies. Our most important crops belong to the family of the grasses, where a number of genomes have now been sequenced. Based on detailed paleogenomics, using inference from n = 5–12 grass ancestral karyotypes (AGKs) in terms of gene content and order, we delineated sequence intervals comprising a complete set of junction break points of orthologous regions from rice, maize, sorghum, and Brachypodium genomes, representing three different subfamilies and different polyploidization events. By focusing on these sequence intervals, we could show that the chromosome number variation/reduction from the n = 12 common paleo-ancestor was driven by nonrandom centric double-strand break repair events. It appeared that the centromeric/telomeric illegitimate recombination between nonhomologous chromosomes led to nested chromosome fusions (NCFs) and synteny break points (SBPs). When intervals comprising NCFs were compared in their structure, we concluded that SBPs (1) were meiotic recombination hotspots, (2) corresponded to high sequence turnover loci through repeat invasion, and (3) might be considered as hotspots of evolutionary novelty that could act as a reservoir for producing adaptive phenotypes.

Published
2010

11. Balanced transmission of a paternal complex chromosomal rearrangement involving chromosomes 2, 3, and 18

Author

Sylvia Quemener, M. Collet, Marc De Braekeleer, Huyen Anh Nguyen, Frédéric Morel, Caroline Benech, Claude Férec, Anne-Hélène Saliou, Audrey Basinko, Marie-Josée Le Bris, Philippe Parent, Aurore Perrin, Nathalie Douet-Guilbert, Génétique moléculaire et génétique épidémiologique, Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de cytogénétique [Brest], Centre Hospitalier Régional Universitaire de Brest (CHRU Brest)-Hôpital Morvan [Brest], Laboratoire d'histologie, d'embryologie et de cytogénétique, Université de Bretagne Occidentale - UFR Médecine et Sciences de la Santé (UBO UFR MSS), Université de Brest (UBO)-Université de Brest (UBO), Groupe d'Etude de la Thrombose de Bretagne Occidentale (GETBO), Université de Brest (UBO)-Institut Brestois Santé Agro Matière (IBSAM), Service de Gynécologie-Obstétrique (BREST - Gynéco-Obs), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Service de Pédiatrie et de Génétique Médicale, Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche en Cancérologie Nantes-Angers (CRCNA), Centre Hospitalier Universitaire d'Angers (CHU Angers), and PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM)-Hôtel-Dieu de Nantes-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Laennec-Centre National de la Recherche Scientifique (CNRS)-Faculté de Médecine d'Angers-Centre hospitalier universitaire de Nantes (CHU Nantes)

Subjects
Adult, Male, MESH: Gene Rearrangement, [SDV]Life Sciences [q-bio], MESH: Chromosomes, Human, Pair 3, MESH: Chromosomes, Human, Pair 2, Chromosomal translocation, MESH: Amniotic Fluid, Chromosomal rearrangement, Biology, Translocation, Genetic, law.invention, 03 medical and health sciences, MESH: Pregnancy, law, Pregnancy, Genetics, Humans, Crossing Over, Genetic, Lymphocytes, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, MESH: Crossing Over, Genetic, Gene Rearrangement, Recombination, Genetic, 0303 health sciences, MESH: Humans, 030305 genetics & heredity, MESH: Adult, Amniotic Fluid, MESH: Male, MESH: Translocation, Genetic, Transmission (mechanics), MESH: Karyotyping, Chromosomes, Human, Pair 2, Karyotyping, MESH: Lymphocytes, MESH: Recombination, Genetic, Female, Chromosomes, Human, Pair 3, MESH: Chromosomes, Human, Pair 18, Chromosomes, Human, Pair 18, MESH: Female
Abstract

International audience

Published
2010

12. Holoprosencephaly: An update on cytogenetic abnormalities

Author

Bendavid, Claude, Dupé, Valérie, Rochard, Lucie, Gicquel, Isabelle, Dubourg, Christèle, David, Véronique, Institut de Génétique et Développement de Rennes (IGDR), Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Service de Génétique Clinique, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-hôpital Sud, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS), Service de génétique clinique [Rennes], and Université de Rennes (UR)-CHU Pontchaillou [Rennes]-hôpital Sud

Subjects
musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, MESH: Molecular Diagnostic Techniques, MLPA, candidate loci molecular diagnosis, HPE, MESH: Comparative Genomic Hybridization, MESH: Microarray Analysis, holoprosencephaly, MESH: Karyotyping, MESH: Pregnancy, array CGH, MESH: Chromosome Aberrations, MESH: Prenatal Diagnosis, MESH: Holoprosencephaly, MESH: Female, [SDV.BDD]Life Sciences [q-bio]/Development Biology
Abstract

International audience; Holoprosencephaly (HPE), the most common developmental defect of the forebrain and midface, is caused by a failure of midline cleavage early in gestation. Isolated HPE, which is highly genetically heterogeneous, can be due to major chromosomal abnormalities. Initially, karyotype approach led to the identification of several recurrent chromosomal anomalies predicting different HPE loci. Subsequently, several genes were isolated from these critical HPE regions, but point mutations and deletions in these genes were found only in 25% of the genetic cases. In order to identify other HPE genes, a more accurate investigation of the genome in HPE patients was necessary. To date, high-resolution cytogenetic techniques such as subtelomeric multiplex ligation-dependent probe amplification (MLPA) and microarray-based comparative genomic hybridization (array CGH) have enhanced chromosomal aberration analysis. In this article, we have updated the cytogenetic anomalies associated with HPE in a map listing all the subtelomeric and interstitial deletions that have been characterized either by karyotype, MLPA, or array CGH. The accumulation of recurrent genomic imbalances will lead to the further delineation of minimal critical HPE loci, which is the first step to the identification of new HPE genes.

Published
2010

13. Cytogenetic Studies in Human Cells Exposed in vitro to GSM-900 MHz Radiofrequency Radiation using R-banded Karyotype

Author

P. Leveque, Vanessa Joubert, B. Marin, Catherine Yardin, Alice Collin, Sylvie Bourthoumieu, Faraj Terro, OSA, XLIM (XLIM), Université de Limoges (UNILIM)-Centre National de la Recherche Scientifique (CNRS)-Université de Limoges (UNILIM)-Centre National de la Recherche Scientifique (CNRS), XLIM ( XLIM ), Université de Limoges ( UNILIM ) -Centre National de la Recherche Scientifique ( CNRS ) -Université de Limoges ( UNILIM ) -Centre National de la Recherche Scientifique ( CNRS ), Service de l'Information Médicale et de l'Évaluation [CHU Limoges] (SIME), CHU Limoges, Laboratoire de Biostatistique et d'Informatique Médicale, Université de Limoges (UNILIM), Neuroépidémiologie Tropicale et Comparée (NETEC), and Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Université de Limoges (UNILIM)

Subjects
Programmed cell death, Radio Waves, Somatic cell, DNA damage, Biophysics, MESH: Radio Waves, Biology, 03 medical and health sciences, GSM frequency bands, 0302 clinical medicine, MESH: Chromosome Aberrations, Humans, Radiology, Nuclear Medicine and imaging, Amnion, MESH: Amnion, Cells, Cultured, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, Radiofrequency radiation, MESH: DNA Damage, Chromosome Aberrations, Genetics, 0303 health sciences, MESH: Humans, Radiation, Specific absorption rate, Karyotype, Molecular biology, In vitro, 3. Good health, MESH: Karyotyping, Karyotyping, 030220 oncology & carcinogenesis, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, MESH: Cells, Cultured, DNA Damage
Abstract

International audience; It is important to determine the possible effects of exposure to radiofrequency (RF) radiation on the genetic material of cells since damage to the DNA of somatic cells may be linked to cancer development or cell death and damage to germ cells may lead to genetic damage in next and subsequent generations. The objective of this study was to investigate whether exposure to radiofrequency radiation similar to that emitted by mobile phones of second-generation standard Global System for Mobile Communication (GSM) induces genotoxic effects in cultured human cells. The cytogenetic effects of GSM-900 MHz (GSM-900) RF radiation were investigated using R-banded karyotyping after in vitro exposure of human cells (amniotic cells) for 24 h. The average specific absorption rate (SAR) was 0.25 W/kg. The exposures were carried out in wire-patch cells (WPCs) under strictly controlled conditions of temperature. The genotoxic effect was assessed immediately or 24 h after exposure using four different samples. One hundred metaphase cells were analyzed per assay. Positive controls were provided by using bleomycin. We found no direct cytogenetic effects of GSM-900 either 0 h or 24 h after exposure. To the best of our knowledge, our work is the first to study genotoxicity using complete R-banded karyotyping, which allows visualizing all the chromosomal rearrangements, either numerical or structural.

Published
2010

14. 19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation

Author

Catherine Turleau, Helen V. Firth, Valérie Cormier-Daire, Michel Vekemans, Stanislas Lyonnet, Alain Bernheim, Arnold Munnich, Valérie Malan, Odile Raoul, Ghislaine Royer, Laurence Colleaux, Lionel Willatt, Laboratoire Histologie Embryologie Cytogénétique [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Descartes - Paris 5 (UPD5), and CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)

Subjects
Male, Ectodermal dysplasia, Microcephaly, MESH: Abnormalities, Multiple, MESH: Chromosomes, Human, Pair 19, Chromosome Disorders, Biology, MESH: Intellectual Disability, 03 medical and health sciences, Intellectual Disability, Chromosome 19, Genetics, medicine, Humans, Abnormalities, Multiple, MESH: In Situ Hybridization, Fluorescence, In Situ Hybridization, Fluorescence, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Sequence Deletion, 030304 developmental biology, Comparative Genomic Hybridization, 0303 health sciences, MESH: Chromosome Disorders, MESH: Humans, 030305 genetics & heredity, Breakpoint, Chromosome, Occiput, Microdeletion syndrome, MESH: Sequence Deletion, medicine.disease, MESH: Male, 3. Good health, MESH: Comparative Genomic Hybridization, medicine.anatomical_structure, MESH: Karyotyping, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Karyotyping, MESH: Oligonucleotide Array Sequence Analysis, Haploinsufficiency, Chromosomes, Human, Pair 19
Abstract

Background: Deletions of chromosome 19 have rarely been reported, with the exception of some patients with deletion 19q13.2 and Blackfan–Diamond syndrome due to haploinsufficiency of the RPS19 gene. Such a paucity of patients might be due to the difficulty in detecting a small rearrangement on this chromosome that lacks a distinct banding pattern. Array comparative genomic hybridisation (CGH) has become a powerful tool for the detection of microdeletions and microduplications at high resolution in patients with syndromic mental retardation. Methods and results: Using array CGH, this study identified three interstitial overlapping 19q13.11 deletions, defining a minimal critical region of 2.87 Mb, associated with a clinically recognisable syndrome. The three patients share several major features including: pre- and postnatal growth retardation with slender habitus, severe postnatal feeding difficulties, microcephaly, hypospadias, signs of ectodermal dysplasia, and cutis aplasia over the posterior occiput. Interestingly, these clinical features have also been described in a previously reported patient with a 19q12q13.1 deletion. No recurrent breakpoints were identified in our patients, suggesting that no-allelic homologous recombination mechanism is not involved in these rearrangements. Conclusions: Based on these results, the authors suggest that this chromosomal abnormality may represent a novel clinically recognisable microdeletion syndrome caused by haploinsufficiency of dosage sensitive genes in the 19q13.11 region.

Published
2009

15. Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci

Author

Jaqueline Vigneron, Isabelle Gicquel, Jonathan Seguin, Caroline Rouleau, Annie Laquerrière, Véronique David, Claude Bendavid, Jean Mosser, Sylvie Jaillard, Christèle Dubourg, Sylvie Odent, Corinne Jeanne-Pasquier, Pascale Marcorelles, Lucie Rochard, Laurent Pasquier, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS), Service de biologie moléculaire, Hôpital Pontchaillou, Service de génétique clinique, hôpital Sud, Consultation de Génétique, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Endothélium microcirculatoire cérébral et lésions du système nerveux central au cours du développement (Néovasc), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institute for Research and Innovation in Biomedicine (IRIB), Normandie Université (NU)-Normandie Université (NU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Anatomie Pathologique, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Laboratoire d'Anatomie Pathologique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Laboratoire d'anatomie pathologique, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Lapeyronie, Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Plate-forme transcriptome, Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), This work was funded by PHRC interrégional 2004, GIS maladies rares (GISMR0701), FMO (Fédération des Maladies Orphelines)., Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS), Service de génétique clinique [Rennes], Université de Rennes (UR)-CHU Pontchaillou [Rennes]-hôpital Sud, Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rennes (UR)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Université de Rennes (UR), and De Villemeur, Hervé

Subjects
musculoskeletal diseases, Candidate gene, congenital, hereditary, and neonatal diseases and abnormalities, MESH: Gene Rearrangement, [SDV.GEN] Life Sciences [q-bio]/Genetics, Biology, ZIC2, CGH array, Cohort Studies, MESH: Nucleic Acid Hybridization, 03 medical and health sciences, Holoprosencephaly, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [SDV.BDD] Life Sciences [q-bio]/Development Biology, Genetics, medicine, Humans, Point Mutation, rearrangements, candidate loci, Gene, MESH: Cohort Studies, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), 030304 developmental biology, MESH: Point Mutation, Gene Rearrangement, 0303 health sciences, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, Genetic heterogeneity, Point mutation, 030305 genetics & heredity, Chromosome Mapping, Nucleic Acid Hybridization, Karyotype, medicine.disease, Subtelomere, holoprosencephaly, MESH: Karyotyping, MESH: Gene Deletion, Karyotyping, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], MESH: Chromosome Mapping, MESH: Holoprosencephaly, Gene Deletion
Abstract

International audience; Holoprosencephaly (HPE) is the most frequent malformation of the brain. To date, 12 different HPE loci and 8 HPE genes have been identified from recurrent chromosomal rearrangements or from the sequencing of genes from Nodal and SHH pathways. Our cohort of HPE patients presents a high genetic heterogeneity. Point mutations were found in SHH, ZIC2, SIX3, and TGIF genes in about 20% of cases (with 10% in SHH). Deletions in these same genes were found in 7.5% of the patients and 4.4% presented with other subtelomeric gain or losses. Consequently, the molecular basis of HPE remains unknown in 70% of our cohorts. To detect new HPE candidate genes, we used array-CGH to refine the previous karyotype based HPE loci map. We analyzed 111 HPE patients with high-performance Agilent oligonucleotidic arrays and found that 28 presented anomalies involving known or new potential HPE loci located on different chromosomes but with poor redundancy. This study showed an impressive rate of 19 patients among 111 with de novo chromosomal anomalies giving evidence that microrearrangements could be a major molecular mechanism in HPE. Additionally, this study opens new insights on HPE candidate genes identification giving an updated HPE candidate loci map.

Published
2009

16. Creation of a registry for human embryonic stem cells carrying an inherited defect: joint collaboration between ESHRE and hESCreg

Author

Anna Veiga, Carlos Simón, Joeri Borstlap, Stéphane Viville, Karen Sermon, Peter Braude, Department of Embryology and Genetics, Université libre de Bruxelles (ULB), Valencia Stem Cell Bank (VSCB), Centro de Investigación Principe Felipe, Instituto Valenciano de Infertilidad Foundation, Universitat de València (UV), Center for Preimplantation Genetic Diagnosis, Guy's and St Thomas' NHS Foundation Trust, Department of Women's Health, King's College, Service de Biologie de la Reproduction, CHU Strasbourg, Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Berlin-Brandenburg Center for Regenerative Therapies at the Charité, Universitätsmedizin Berlin, Centre de Medicina Regenerativa de Barcelona, Servei de Medicina de la Reproducció, USP Institut Universitari Dexeus, and Peney, Maité

Subjects
Male, MESH: Genetic Diseases, Inborn, MESH: Mutation, Reproductive Techniques, Assisted, MESH: Registries, hESC registry, Reproductive technology, Computational biology, Biology, Preimplantation genetic diagnosis, Regenerative medicine, Cell Line, 03 medical and health sciences, 0302 clinical medicine, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Humans, MESH: Chromosome Aberrations, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Registries, MESH: Embryonic Stem Cells, Embryonic Stem Cells, genetic abnormality, 030304 developmental biology, Genetics, Chromosome Aberrations, 0303 health sciences, 030219 obstetrics & reproductive medicine, MESH: Humans, Rehabilitation, Genetic Diseases, Inborn, Obstetrics and Gynecology, human embryonic stem cells, Embryonic stem cell, Human genetics, MESH: Male, 3. Good health, MESH: Cell Line, MESH: Reproductive Techniques, Assisted, MESH: Karyotyping, Reproductive Medicine, Drug development, Karyotyping, Mutation, embryonic structures, monogenic disease, Female, Stem cell, Developmental biology, MESH: Female
Abstract

International audience; Human embryonic stem cells (hESCs), derived from human blastocysts, hold a great promise for regenerative medicine, drug development and basic research in developmental biology. Moreover, hESC lines that carry a clinically relevant inherited defect, monogenic or chromosomal, present an important tool for research into the pathophysiology of these diseases. The hESC registry (hESCreg) was started up in 2007 in order to register all stem cell lines derived in Europe (www.hescreg.eu). Because of the special nature of the hESC lines that carry an inherited disease, they are of particular interest to researchers outside the assisted reproductive technologies or stem cell fields, for instance, those involved in regenerative medicine and in medical and human genetics. To reach these researchers, and to better disseminate the information on the cell lines, a concerted action of the hESCreg together with ESHRE's Special Interest Groups in Reproductive Genetics and Stem Cells was initiated. This mini-review is a first report that will be followed by yearly reports of new lines, not unlike the reports from the Preimplantation Genetic Diagnosis Consortium or the European IVF Monitoring.

Published
2009

17. Genome Alteration Print (GAP): a tool to visualize and mine complex cancer genomic profiles obtained by SNP arrays

Author

Elodie Manié, Emmanuel Barillot, Marc-Henri Stern, Tatiana Popova, Dominique Stoppa-Lyonnet, Guillem Rigaill, Unité de génétique et biologie des cancers ( U830 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut Curie-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Département de Biologie des Tumeurs, INSTITUT CURIE, Mathématiques et Informatique Appliquées ( MIA-Paris ), Institut National de la Recherche Agronomique ( INRA ) -AgroParisTech, Département de recherche translationnelle, Cancer et génôme: Bioinformatique, biostatistiques et épidémiologie d'un système complexe, MINES ParisTech - École nationale supérieure des mines de Paris-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -INSTITUT CURIE, This work is part of the 'Cancéropôle Ile-de-France-Région Ile-de-France-Hereditary Breast Cancer' program coordinated by DSL and MHS. This work also was supported by the INSERM, the Institut Curie, and its Translational Research Department. TP is supported by a grant from the Cancéropôle Ile-de-France-Région Ile-de-France. GR is supported by a grant from the Institut National du Cancer (INCa)., Unité de génétique et biologie des cancers (U830), Université Paris Descartes - Paris 5 (UPD5)-Institut Curie-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Curie, Mathématiques et Informatique Appliquées (MIA-Paris), AgroParisTech-Institut National de la Recherche Agronomique (INRA), MINES ParisTech - École nationale supérieure des mines de Paris-Institut Curie-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Institut Curie [Paris], Cancer et génome: Bioinformatique, biostatistiques et épidémiologie d'un système complexe, MINES ParisTech - École nationale supérieure des mines de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Département de Recherche Translationnelle, Mines Paris - PSL (École nationale supérieure des mines de Paris), and BMC, Ed.

Subjects
Method, Loss of Heterozygosity, MESH : Models, Genetic, MESH : Genotype, [SDV.GEN] Life Sciences [q-bio]/Genetics, Allelic Imbalance, MESH : Breast Neoplasms, Genome, Loss of heterozygosity, MESH: Genotype, Automation, MESH: Ploidies, 0302 clinical medicine, Models, MESH: Automation, Genotype, MESH: Models, Genetic, MESH : Karyotyping, Genetics, 0303 health sciences, MESH: Polymorphism, Single Nucleotide, MESH: Genomics, Homozygote, MESH : Polymorphism, Single Nucleotide, Single Nucleotide, Genomics, MESH: Gene Expression Regulation, Neoplastic, SDV:GEN, Gene Expression Regulation, Neoplastic, [ SDV.BBM.GTP ] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], 030220 oncology & carcinogenesis, MESH : Ploidies, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], MESH: Homozygote, MESH : Gene Expression Regulation, Neoplastic, Breast Neoplasms, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, MESH: Gene Expression Profiling, MESH : Homozygote, Genetic, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], SNP, Humans, MESH: Genome, Polymorphism, MESH : Allelic Imbalance, 030304 developmental biology, MESH: Loss of Heterozygosity, Neoplastic, [SDV.GEN]Life Sciences [q-bio]/Genetics, Ploidies, MESH: Humans, Models, Genetic, Gene Expression Profiling, MESH : Gene Expression Profiling, MESH : Genomics, MESH : Humans, MESH: Allelic Imbalance, Gene Expression Regulation, Karyotyping, SDV:BBM:GTP, Human genetics, MESH : Automation, Gene expression profiling, MESH: Karyotyping, MESH : Genome, [ SDV.GEN ] Life Sciences [q-bio]/Genetics, MESH: Breast Neoplasms, MESH : Loss of Heterozygosity
Abstract

GAP, a method for analyzing complex cancer genome profiles from SNP arrays, performs well even with poor quality data and rearranged genomes, We describe a method for automatic detection of absolute segmental copy numbers and genotype status in complex cancer genome profiles measured with single-nucleotide polymorphism (SNP) arrays. The method is based on pattern recognition of segmented and smoothed copy number and allelic imbalance profiles. Assignments were verified by DNA indexes of primary tumors and karyotypes of cell lines. The method performs well even for poor-quality data, low tumor content, and highly rearranged tumor genomes.

Published
2009

18. TCF4 deletions in Pitt-Hopkins Syndrome

Author

Jacqueline Arfi, Julia Rankin, Michel Goossens, Gilles Morin, Laurent Villard, Anne Moncla, Pierre Sarda, Chantal Missirian, Tessa Fredriksen, Jean Claude Lambert, Brigitte Chabrol, Thierry Gaillon, Michèle Mathieu-Dramard, Dominique Martin-Coignard, Irina Giurgea, Nicole Philip, Fabienne Giuliano, Sandra Whalen, Christèle Dubourg, Pierre Cacciagli, Institut Mondor de recherche biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Service de génétique médicale, CHU Amiens-Picardie, Service de génétique, Centre Hospitalier Le Mans (CH Le Mans), Service de biologie moléculaire, Hôpital Pontchaillou, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS), Service de pédiatrie et neurologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Hôpital l'Archet, Unité de Génétique Médicale et Foetopathologie, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve, De Villemeur, Hervé, Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Université de Rennes 1 (UR1), and Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Male, Developmental Disabilities, DNA Mutational Analysis, Pitt–Hopkins syndrome, MESH: Codon, Terminator, Gene mutation, MESH: Hyperventilation, MESH: Mental Retardation, MESH: Child, Hyperventilation, MESH: Syndrome, MESH: DNA Mutational Analysis, Child, Genetics (clinical), Sequence Deletion, [INFO.INFO-BI] Computer Science [cs]/Bioinformatics [q-bio.QM], Genetics, Comparative Genomic Hybridization, 0303 health sciences, [SDV.BIBS] Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], 030305 genetics & heredity, Syndrome, MESH: Sequence Deletion, Phenotype, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], Stop codon, 3. Good health, Child, Preschool, Codon, Terminator, Female, TCF Transcription Factors, Haploinsufficiency, Transcription Factor 7-Like 2 Protein, MESH: Abnormalities, Multiple, MESH: Mutation, Adolescent, Locus (genetics), Biology, MESH: Phenotype, 03 medical and health sciences, Intellectual Disability, medicine, Humans, Abnormalities, Multiple, Gene, 030304 developmental biology, MESH: Adolescent, MESH: Humans, Point mutation, MESH: Child, Preschool, medicine.disease, Molecular biology, MESH: Male, MESH: Comparative Genomic Hybridization, MESH: Karyotyping, MESH: Developmental Disabilities, Karyotyping, Mutation, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], Chromosomes, Human, Pair 18, MESH: Chromosomes, Human, Pair 18, MESH: Female, MESH: TCF Transcription Factors
Abstract

International audience; Pitt-Hopkins syndrome (PHS) is a probably underdiagnosed, syndromic mental retardation disorder, marked by hyperventilation episodes and characteristic dysmorphism (large beaked nose, wide mouth, fleshy lips, and clubbed fingertips). PHS was shown to be caused by de novo heterozygous mutations of the TCF4 gene, located in 18q21. We selected for this study 30 unrelated patients whose phenotype overlapped PHS but which had been initially addressed for Angelman, Mowat-Wilson, or Rett syndromes. In 10 patients we identified nine novel mutations (four large cryptic deletions, including one in mosaic, and five small deletions), and a recurrent one. So far, a total of 20 different TCF4 gene mutations have been reported, most of which either consist in deletion of significant portions of the TCF4 coding sequence, or generate premature stop codons. No obvious departure was observed between the patients harboring point mutations and large deletions at the 18q21 locus, further supporting TCF4 haploinsufficiency as the molecular mechanism underling PHS. In this report, we also further specify the phenotypic spectrum of PHS, enlarged to behavior, with aim to increase the rate and specificity of PHS diagnosis.

Published
2008

19. Natural polyploidy in Vanilla planifolia (Orchidaceae)

Author

Spencer C. BrownS.C. Brown, Séverine Bory, Marie-France Duval, Rodolphe GigantR. Gigant, Pascale Besse, Olivier Catrice, Ilia J. Leitch, Michel Grisoni, Frédéric Chiroleu, Peuplements végétaux et bioagresseurs en milieu tropical (UMR PVBMT), Institut de Recherche pour le Développement (IRD)-Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Université de La Réunion (UR)-Institut National de la Recherche Agronomique (INRA), Institut des sciences du végétal (ISV), Centre National de la Recherche Scientifique (CNRS), Synthèse et étude de systèmes à intêret biologique (SEESIB), Université Blaise Pascal - Clermont-Ferrand 2 (UBP)-Centre National de la Recherche Scientifique (CNRS), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Institut de Recherche pour le Développement (IRD)-Institut National de la Recherche Agronomique (INRA)-Université de La Réunion (UR), Université Blaise Pascal - Clermont-Ferrand 2 (UBP)-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC), and Université Blaise Pascal - Clermont-Ferrand 2 (UBP)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)

Subjects
0106 biological sciences, MESH: Genome, Plant, Phénotype, 01 natural sciences, F30 - Génétique et amélioration des plantes, MESH: Chromosomes, Plant, 0303 health sciences, biology, Vanilla planifolia, Karyotype, General Medicine, Polyploïdie, MESH: Orchidaceae, Genome, Plant, Biotechnology, DNA, Plant, Chromosomes, Plant, Polyploidy, 03 medical and health sciences, Nombre chromosomique, MESH: Polyploidy, Botany, Genetics, [SDV.BV]Life Sciences [q-bio]/Vegetal Biology, Feulgen stain, Orchidaceae, MESH: DNA, Plant, Technique analytique, Vanilla, Molecular Biology, Genome size, 030304 developmental biology, Genetic diversity, Génome, MESH: Vanilla, Chromosome, biology.organism_classification, MESH: Karyotyping, Karyotyping, Plant Stomata, Amplified fragment length polymorphism, MESH: Plant Stomata, 010606 plant biology & botany
Abstract

International audience; Vanilla planifolia accessions cultivated in Reunion Island display important phenotypic variation, but little genetic diversity is demonstrated by AFLP and SSR markers. This study, based on analyses of flow cytometry data, Feulgen microdensitometry data, chromosome counts, and stomatal length measurements, was performed to determine whether polyploidy could be responsible for some of the intraspecific phenotypic variation observed. Vanilla planifolia exhibited an important variation in somatic chromosome number in root cells, as well as endoreplication as revealed by flow cytometry. Nevertheless, the 2C-values of the 50 accessions studied segregated into three distinct groups averaging 5.03 pg (for most accessions), 7.67 pg (for the 'Stérile' phenotypes), and 10.00 pg (for the 'Grosse Vanille' phenotypes). For the three groups, chromosome numbers varied from 16 to 32, 16 to 38, and 22 to 54 chromosomes per cell, respectively. The stomatal length showed a significant variation from 37.75 microm to 48.25 microm. Given that 2C-values, mean chromosome numbers, and stomatal lengths were positively correlated and that 'Stérile' and 'Grosse Vanille' accessions were indistinguishable from 'Classique' accessions using molecular markers, the occurrence of recent autotriploid and autotetraploid types in Reunion Island is supported. This is the first report showing evidence of a recent autopolyploidy in V. planifolia contributing to the phenotypic variation observed in this species.

Published
2008

20. Monosomy 7 and absence of 12q amplification in two cases of spindle cell liposarcomas

Author

Rita Attias, Antoine Italiano, Florence Pedeutour, Marie-Laure Chambonniere, Frédéric Chibon, Jean-Michel Coindre, Laboratory of Solid Tumors Genetics, Nice University Hospital, Institut de signalisation, biologie du développement et cancer (ISBDC), Centre National de la Recherche Scientifique (CNRS)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA), Department of Pathology, Saint Etienne University Hospital, Département de pathologie, Institut Bergonié [Bordeaux], UNICANCER-UNICANCER, Laboratoire d'anatomopathologie, and Université Bordeaux Segalen - Bordeaux 2-Institut Bergonié [Bordeaux]

Subjects
Male, MESH: Carcinoma, Cancer Research, Myeloid, MESH: Gene Amplification, Pathogenesis, 0302 clinical medicine, Monosomy, MESH: Aged, 80 and over, hemic and lymphatic diseases, MESH: In Situ Hybridization, Fluorescence, In Situ Hybridization, Fluorescence, Genetics, Chromosome 7 (human), Aged, 80 and over, 0303 health sciences, Liposarcoma, MESH: Monosomy, 3. Good health, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Mdm2, Female, MESH: Chromosome Banding, Chromosomes, Human, Pair 7, Adult, MESH: Chromosomes, Human, Pair 7, [SDV.CAN]Life Sciences [q-bio]/Cancer, Biology, 03 medical and health sciences, MESH: Liposarcoma, medicine, Humans, Supernumerary, Molecular Biology, Chromosome 12, 030304 developmental biology, Chromosomes, Human, Pair 12, MESH: Humans, Myelodysplastic syndromes, Carcinoma, Gene Amplification, MESH: Adult, medicine.disease, MESH: Male, Chromosome Banding, MESH: Karyotyping, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Karyotyping, biology.protein, Cancer research, MESH: Chromosomes, Human, Pair 12, MESH: Female
Abstract

Spindle cell liposarcoma (SCL) is a rare malignant adipose tissue tumor presently regarded as a variant of well-differentiated liposarcoma (WDLPS). While WDLPS is cytogenetically characterized by the presence of supernumerary ring or giant chromosomes containing MDM2 amplification, data concerning the genomic alterations of SCL are scarce. Here, we describe the molecular cytogenetic characterization of two SCL cases. In these two cases, we did not identify supernumerary ring or giant chromosomes containing 12q amplification or any other chromosome 12 rearrangement. Instead, we observed a partial or complete monosomy 7 as the sole anomaly or among a few additional simple numeric and structural abnormalities. Monosomy 7 is not usual in adipose tissue tumors. It has been described in myelodysplastic syndromes and acute myeloid or lymphoblastic leukemias, as well as in several benign or malignant solid tumors. Our data suggest that the loss of material from chromosome 7 might play a crucial role in the pathogenesis of some SCL probably through the inactivation of tumor suppressor genes located on chromosome 7. On the basis of cytogenetic and molecular findings, some SCL may constitute an independent entity rather than being regarded as variants of WDLPS.

Published
2008

21. Osmoresistant yeast Zygosaccharomyces rouxii: the two most studied wild-type strains (ATCC 2623 and ATCC 42981) differ in osmotolerance and glycerol metabolism

Author

Hana Sychrová, Lenka Pribylova, Jacky de Montigny, Department of Membrane Transport [Prague], Czech Academy of Sciences [Prague] (CAS), Génétique moléculaire, génomique, microbiologie (GMGM), Université Louis Pasteur - Strasbourg I-Centre National de la Recherche Scientifique (CNRS), and Czech Academy of Sciences [Prague] (ASCR)

Subjects
Glycerol, Osmotic shock, Saccharomyces cerevisiae, Bioengineering, Zygosaccharomyces, MESH: Zygosaccharomyces, Cell morphology, Applied Microbiology and Biotechnology, Biochemistry, 03 medical and health sciences, chemistry.chemical_compound, MESH: Glycerol, Osmotic Pressure, Genetics, 030304 developmental biology, 0303 health sciences, [SDV.GEN]Life Sciences [q-bio]/Genetics, biology, 030306 microbiology, Fungal genetics, MESH: Osmotic Pressure, biology.organism_classification, MESH: Chromosomes, Fungal, Yeast, Culture Media, MESH: Karyotyping, MESH: Salts, chemistry, Karyotyping, Halotolerance, MESH: Culture Media, Salts, Chromosomes, Fungal, Biotechnology
Abstract

The yeast Zygosaccharomyces rouxii is known for its high tolerance to osmotic stress, which is thought to be caused by sets of specific genes. Relatively few Z. rouxii genes have been identified so far, all of them having homologues in Saccharomyces cerevisiae; none of them was Z. rouxii-specific. Most of the known Z. rouxii genes were isolated from two wild-type strains, ATCC 2623 and ATCC 42981. In this study, we compared these two strains with regard to some of their morphological, physiological and genomic properties. Important differences were found in their salt tolerance and assimilation of glycerol and karyotype; slight differences were also present in their cell morphology. The ATCC 42981 strain showed a higher resistance to salts, higher glycerol production and, unlike ATCC 2623, was able to assimilate glycerol. Under conditions of osmotic stress, the glycerol production in both Z. rouxii strains was much lower than in a S. cerevisiae S288c culture, which suggested the presence of a system that efficiently retains glycerol inside Z. rouxii cells. The karyotype analysis revealed that ATCC 42981 cells contain more chromosomes and have a bigger genome size than those of ATCC 2623.

Published
2007

22. Transplantation of a multipotent cell population from human adipose tissue induces dystrophin expression in the immunocompetent mdx mouse

Author

Anne-Marie Rodriguez, Claude Bagnis, Christian Dani, Hervé Groux, Didier F. Pisani, Claude Turc-Carel, Gérard Ailhaud, Brigitte Wdziekonski, Jean-Philippe Breittmayer, Jean Yves Kurzenne, Claude A. Dechesne, Albert P Villageois, Institut de signalisation, biologie du développement et cancer (ISBDC), Centre National de la Recherche Scientifique (CNRS)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA), Physiologie cellulaire et moléculaire des systèmes intégrés (PCMSI), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS), UMR 6549 CNRS, Centre National de la Recherche Scientifique (CNRS), Interactions cellulaires en immunologie et immunopathologie, Institut National de la Santé et de la Recherche Médicale (INSERM), Anthropologie bio-culturelle, Droit, Ethique et Santé (ADES), Aix Marseille Université (AMU)-EFS ALPES MEDITERRANEE-Centre National de la Recherche Scientifique (CNRS), Laboratoire de PhysioMédecine Moléculaire (LP2M), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), and Université Nice Sophia Antipolis (1965 - 2019) (UNS)

Subjects
Male, mdx mouse, [SDV]Life Sciences [q-bio], Cellular differentiation, Duchenne muscular dystrophy, Adipose tissue, MESH: Flow Cytometry, Dystrophin, Mice, 0302 clinical medicine, MESH: Reverse Transcriptase Polymerase Chain Reaction, MESH: Child, Immunology and Allergy, MESH: Animals, Child, [SDV.BDD]Life Sciences [q-bio]/Development Biology, 0303 health sciences, education.field_of_study, MESH: Muscle, Skeletal, biology, Reverse Transcriptase Polymerase Chain Reaction, MESH: Mice, Inbred mdx, Cell Differentiation, Flow Cytometry, Immunohistochemistry, MESH: Infant, MESH: Gene Expression Regulation, Cell biology, Adipose Tissue, Child, Preschool, 030220 oncology & carcinogenesis, Female, Immunocompetence, MESH: Adipose Tissue, MESH: Cell Differentiation, MESH: DNA Primers, Transplantation, Heterologous, Immunology, Population, Article, 03 medical and health sciences, MESH: Dystrophin, medicine, Animals, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Muscle, Skeletal, education, MESH: Mice, MESH: Transplantation, Heterologous, DNA Primers, 030304 developmental biology, MESH: Humans, Multipotent Stem Cells, MESH: Child, Preschool, Infant, MESH: Immunohistochemistry, medicine.disease, Molecular biology, MESH: Male, Transplantation, MESH: Immunocompetence, MESH: Karyotyping, Gene Expression Regulation, Multipotent Stem Cell, Karyotyping, Mice, Inbred mdx, biology.protein, MESH: Multipotent Stem Cells, MESH: Female
Abstract

International audience; Here, we report the isolation of a human multipotent adipose-derived stem (hMADS) cell population from adipose tissue of young donors. hMADS cells display normal karyotype; have active telomerase; proliferate >200 population doublings; and differentiate into adipocytes, osteoblasts, and myoblasts. Flow cytometry analysis indicates that hMADS cells are CD44+, CD49b+, CD105+, CD90+, CD13+, Stro-1(-), CD34-, CD15-, CD117-, Flk-1(-), gly-A(-), CD133-, HLA-DR(-), and HLA-I(low). Transplantation of hMADS cells into the mdx mouse, an animal model of Duchenne muscular dystrophy, results in substantial expression of human dystrophin in the injected tibialis anterior and the adjacent gastrocnemius muscle. Long-term engraftment of hMADS cells takes place in nonimmunocompromised animals. Based on the small amounts of an easily available tissue source, their strong capacity for expansion ex vivo, their multipotent differentiation, and their immune-privileged behavior, our results suggest that hMADS cells will be an important tool for muscle cell-mediated therapy.

Published
2005

23. Myxoid malignant fibrous histiocytoma and pleomorphic liposarcoma share very similar genomic imbalances

Author

Aline Mairal, Josette Derré, Alain Aurias, Jean-Michel Coindre, Odette Mariani, Ahmed Idbaih, Dominique Ranchère, Philippe Terrier, Pathologie moléculaire des cancers, Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire d'anatomopathologie, Institut Bergonié [Bordeaux], UNICANCER-UNICANCER-Université Bordeaux Segalen - Bordeaux 2, Département de biologie et pathologie médicales [Gustave Roussy], Institut Gustave Roussy (IGR), Service de pathologie, Centre Léon Bérard [Lyon], and Idbaih, Ahmed

Subjects
Male, Pathology, Soft Tissue Neoplasms, [SDV.GEN] Life Sciences [q-bio]/Genetics, 0302 clinical medicine, MESH: Aged, 80 and over, Chromosomes, Human, In Situ Hybridization, MESH: Aged, Aged, 80 and over, 0303 health sciences, MESH: Middle Aged, Soft tissue sarcoma, Chromosome Mapping, Karyotype, Liposarcoma, Middle Aged, 030220 oncology & carcinogenesis, Female, Sarcoma, Chromosome Deletion, MESH: Soft Tissue Neoplasms, Adult, medicine.medical_specialty, Soft Tissue Neoplasm, MESH: Chromosome Deletion, [SDV.CAN]Life Sciences [q-bio]/Cancer, Biology, MESH: Chromosomes, Human, Pleomorphic Liposarcoma, Pathology and Forensic Medicine, 03 medical and health sciences, MESH: In Situ Hybridization, [SDV.CAN] Life Sciences [q-bio]/Cancer, MESH: Liposarcoma, medicine, Humans, Molecular Biology, 030304 developmental biology, Aged, MESH: Histiocytoma, Benign Fibrous, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, Histiocytoma, Benign Fibrous, Chromosome, MESH: Adult, Cell Biology, medicine.disease, MESH: Male, MESH: Karyotyping, Karyotyping, MESH: Chromosome Mapping, MESH: Female, Comparative genomic hybridization
Abstract

International audience; Malignant fibrous histiocytoma (MFH) is the most common soft tissue sarcoma. Nevertheless, the validity of this heterogeneous pathological entity has been recurrently questioned by pathologists. Recently, analyses by comparative genomic hybridization (CGH) of a large series of MFHs suggested that MFHs consist of morphologic modulation of other poorly differentiated sarcomas like leiomyosarcomas (LMS) or dedifferentiated liposarcomas (DLPS). We report here an analysis by CGH of 22 myxoid MFHs (mMFH), one of the five histological subtypes of MFH, and of nine pleomorphic liposarcomas (pLPS), a rare poorly differentiated LPS. The chromosome imbalances encountered in the series of mMFH were very similar to those observed in the series of pLPS studied in the laboratory and in the series of 14 pLPS published in the literature. The most frequent gains involved chromosome subregions: pericentromeric regions of 1, 5p, 19p, 19q and 20q. Losses found in the chromosomal arms 1q, 2q, 3p, 4q, 10q, 11q and 13q were also recurrent. The use of a clustering software did not separate the two pathological groups (mMFH and pLPS) on the basis of genomic data. Moreover, pLPS-mMFH represented, according to the clustering software results, an entity clearly distinguished from other soft tissue sarcomas, LMS in particular, with which they share common genetic aberrations. Additional studies are needed to identify genes targeted by these genomic aberrations, and implicated in the oncogenesis of these tumor subtypes. The characterization of common gene alterations in both tumor groups would suggest a closer relationship between these two types of soft tissue sarcomas.

Published
2005

24. A new model of pre-B acute lymphoblastic leukemia chemically induced in rats

Author

Michel Arock, Lionel Devevey, Philippe Helissey, Jean-Jacques Guillosson, Joëlle Nafziger, Pascale Chrétien, Natacha Bernard, Céline Jacquemont, Université Pierre et Marie Curie - Paris 6 (UPMC), Littoral, Environnement, Télédétection, Géomatique (LETG - Nantes), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-École pratique des hautes études (EPHE)-Université de Brest (UBO)-Université de Rennes 2 (UR2), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Institut de Géographie et d'Aménagement (IGARUN), Université de Nantes (UN)-Université de Nantes (UN), Institut de Recherche en Electrotechnique et Electronique de Nantes Atlantique EA4642 (IREENA), Ecole Polytechnique de l'Université de Nantes (Polytech Nantes), Littoral, Environnement, Télédétection, Géomatique (LETG - Brest), Littoral, Environnement, Télédétection, Géomatique UMR 6554 (LETG), Normandie Université (NU)-Normandie Université (NU)-Université d'Angers (UA)-Université de Nantes (UN)-École pratique des hautes études (EPHE)-Université de Brest (UBO)-Université de Rennes 2 (UR2), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Université de Caen Normandie (UNICAEN), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS), Unité sous contrat biologie environnementale, Institut National de la Recherche Agronomique (INRA)-Université de Franche-Comté (UFC), Epidémiologie, santé publique et développement, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de médecine interne, CHU Bordeaux [Bordeaux]-Hôpital Saint-André, Laboratoire de génie électrique de Paris (LGEP), Université Paris-Sud - Paris 11 (UP11)-Université Pierre et Marie Curie - Paris 6 (UPMC)-SUPELEC-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Biologie et de Pharmacologie Appliquée (LBPA), École normale supérieure - Cachan (ENS Cachan)-Centre National de la Recherche Scientifique (CNRS), Normandie Université (NU)-Normandie Université (NU)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université de Brest (UBO)-Université de Rennes 2 (UR2), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Institut de Géographie et d'Aménagement Régional de l'Université de Nantes (IGARUN), Institut Universitaire de Technologie Saint-Nazaire (IUT Saint-Nazaire), Université de Nantes (UN)-Université de Nantes (UN)-Ecole Polytechnique de l'Université de Nantes (EPUN), Université de Nantes (UN)-Institut Universitaire de Technologie - La Roche-sur-Yon (IUT La Roche-sur-Yon), Normandie Université (NU)-Normandie Université (NU)-Université d'Angers (UA)-École pratique des hautes études (EPHE), Université de Nantes (UN)-Université de Nantes (UN)-Université de Caen Normandie (UNICAEN), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Université Paris-Sud - Paris 11 (UP11)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Ecole Supérieure d'Electricité - SUPELEC (FRANCE)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 2 (UR2), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université de Brest (UBO)-École pratique des hautes études (EPHE)-Université de Nantes (UN)-Université d'Angers (UA)-Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 2 (UR2), and Normandie Université (NU)-Normandie Université (NU)

Subjects
Male, Cancer Research, Pathology, MESH: Carcinogens, Nitrosourea Compounds, 0302 clinical medicine, Immunophenotyping, hemic and lymphatic diseases, MESH: Animals, Gene Rearrangement, B-Lymphocyte, Gene Rearrangement, 0303 health sciences, Acute leukemia, Leukemia, MESH: Gene Rearrangement, B-Lymphocyte, B-Lymphocyte, Hematology, 3. Good health, medicine.anatomical_structure, 030220 oncology & carcinogenesis, MESH: Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, [SDV.IMM]Life Sciences [q-bio]/Immunology, medicine.medical_specialty, MESH: Rats, MESH: Leukemia, Experimental, Pre-B Acute Lymphoblastic Leukemia, Biology, 03 medical and health sciences, Experimental, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, MESH: Nitrosourea Compounds, Genetics, medicine, Animals, B Acute Lymphoblastic Leukemia, Molecular Biology, 030304 developmental biology, Leukemia, Experimental, Cell Biology, Gene rearrangement, medicine.disease, MESH: Male, Rats, Transplantation, MESH: Karyotyping, Karyotyping, Carcinogens, Bone marrow, MESH: Neoplasm Transplantation, Neoplasm Transplantation
Abstract

OBJECTIVE: Although B acute lymphoblastic leukemia (B-ALL) is the most common leukemia among children, no chemically inducible model of this leukemia has yet been described in vivo. METHODS: Leukemia was chemically induced in male WKAH/Hkm rats by a nitrosourea derivative, N-butylnitrosourea (BNU), an alkylating agent, administered orally 5 days a week for 24 weeks. Development of leukemia was monitored by clinical observation, follow-up of blood parameters, and appearance of blast cells in peripheral blood samples. The phenotype of the leukemia was determined by cytological examination, cytochemical reactions, and by immunophenotyping of bone marrow cells using various markers. The feasibility of leukemia transplantation was investigated. Clonality and karyotype analyses were also performed. RESULTS: We observed the appearance of acute leukemia in 60% of the rats treated with BNU. Of these, 65% developed pre-B-ALL, which was serially transplantable to healthy WKAH/Hkm male rats. Karyotype analysis did not reveal clonal abnormalities. Clonality determined by immunoglobulin gene rearrangement sequencing disclosed that the pre-B-ALL were mostly oligoclonal. CONCLUSION: This new in vivo model of inducible pre-B-ALL might be useful for investigating the effects of co-initiating or promoting agents suspected to be involved in leukemia development, and for disclosing new molecular events leading to leukemogenic processes.

Published
2005

25. Nuclear DNA content and chromosome number in some diploid and tetraploid Centaurea (Asteraceae: Cardueae) from the Dalmatia region

Author

Dražena Papeš, Marija-Edita Šolić, Sonja Siljak-Yakovlev, Olivier Catrice, Spencer Brown, Ecologie Systématique et Evolution (ESE), Ecole Nationale du Génie Rural, des Eaux et des Forêts (ENGREF)-Université Paris-Sud - Paris 11 (UP11)-Centre National de la Recherche Scientifique (CNRS), Institute 'Mountain and Sea', Franjevacki, Institute 'Mountain and Sea', Institut des sciences du végétal (ISV), Centre National de la Recherche Scientifique (CNRS), Division of Molecular Biology [Zagreb], Department of Biology [Zagreb], Faculty of Science [Zagreb], University of Zagreb-University of Zagreb-Faculty of Science [Zagreb], University of Zagreb-University of Zagreb, and Centre National de la Recherche Scientifique (CNRS)-Université Paris-Sud - Paris 11 (UP11)-Ecole Nationale du Génie Rural, des Eaux et des Forêts (ENGREF)

Subjects
0106 biological sciences, MESH: Genome, Plant, DNA, Plant, Croatia, Centaurea, Plant Science, Subspecies, 010603 evolutionary biology, 01 natural sciences, Chromosomes, Plant, MESH: Variation (Genetics), Centaurea ragusina, MESH: Ploidies, Polyploid, Botany, [SDV.BV]Life Sciences [q-bio]/Vegetal Biology, MESH: Chromosomes, Plant, MESH: DNA, Plant, Genome size, Ecology, Evolution, Behavior and Systematics, Ploidies, biology, MESH: Centaurea, Chromosome, Genetic Variation, General Medicine, biology.organism_classification, Nuclear DNA, MESH: Karyotyping, Karyotyping, Ploidy, genome size and base composition, basic chromosome number, flow cytometry, interspecific and intraspecific variation, Genome, Plant, MESH: Croatia, 010606 plant biology & botany
Abstract

Given the paucity of information about genome size in the genus Centaurea, nuclear DNA content of 15 Centaurea taxa, belonging to four subgenera and six different sections, has been investigated for the first time. The sample concerns 21 populations from the Dalmatia region of Croatia. The 2C DNA content and GC percentage were assessed by flow cytometry and chromosome number was determined using standard methods. Genome size of studied Centaurea ranged from 2C = 1.67 to 3.72 pg. These results were in accordance with chromosome number and especially with ploidy level that varies throughout this group; 2C DNA values ranged from 1.67 to 3.43 pg for diploid, and from 3.19 to 3.72 for polyploid taxa. No significant intraspecific variations of DNA amount were found between two subspecies of C. visiani and C. ragusina, nor between two varieties of C. gloriosa. However, some populations of C. glaberrima and C. cuspidata showed a significant difference in DNA amount. Three different basic chromosome numbers were observed in studied species (x = 9, 10, and 11). The most frequent basic number was x = 9. C. rupestris, C. ragusina ssp. ragusina, and C. r. ssp. lungensis possessed x = 10 and C. tuberosa x = 11. The species with a basic chromosome number of x = 9 had a small genome size and the smallest chromosomes (on average 0.09 to 0.12 pg/chromosome) but frequently present polyploidy. Centaurea ragusina ssp. ragusina and C. r. ssp. lungensis had a mean base composition 41.3 % GC.

Published
2005

26. Chromosome abnormalities in sperm from infertile men with normal somatic karyotypes: teratozoospermia

Author

N. Machev, S. Viville, P. Gosset, Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Louis Pasteur - Strasbourg I, and Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Male, Infertility, endocrine system, Somatic cell, medicine.medical_treatment, Biology, Teratozoospermia, MESH: Infertility, Male, Intracytoplasmic sperm injection, Male infertility, Andrology, 03 medical and health sciences, 0302 clinical medicine, Reference Values, MESH: Polymorphism, Genetic, Genetics, medicine, Humans, MESH: Chromosome Aberrations, Molecular Biology, Infertility, Male, Genetics (clinical), reproductive and urinary physiology, 030304 developmental biology, Chromosome Aberrations, 0303 health sciences, Polymorphism, Genetic, 030219 obstetrics & reproductive medicine, MESH: Humans, urogenital system, MESH: Spermatozoa, MESH: Reference Values, Chromosome, Karyotype, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, Spermatozoa, Sperm, MESH: Male, 3. Good health, MESH: Karyotyping, Karyotyping, embryonic structures, therapeutics
Abstract

International audience; Teratozoospermia is characterized by the presence of spermatozoa with abnormal morphology in sperm. This condition is frequently associated with infertility and intracytoplasmic sperm injection (ICSI) is frequently used as the treatment of choice. However, the use of ICSI has created consequential debate concerning the genetic risk for the offspring. Fluorescence in situ hybridization technique (FISH), allowing the specific identification of human chromosomes in sperm nuclei, has been used to study chromosome abnormalities in sperm from men with teratozoospermia and a normal karyotype. In this review, we present studies that have tried to determine if men with a normal blood karyotype but suffering from teratozoospermia present a higher aneuploidy frequency. The literature is limited to three forms of teratozoospermia. The first group consists of "polymorphic teratozoospermia", where a majority of spermatozoa display more than one type of abnormality. In this case, only a slight increase in aneuploidy frequency is observed, which cannot be differentiated from the results observed in oligo-astheno-teratozoospermia (OAT). The second group, named "globozoospermia", is characterized by round spermatic heads, absence of acrosome and disorganization of mid-piece and tail. In this case, some studies have shown a significant, but moderate, increase in the aneuploidy frequency for acrocentrics and sex chromosomes. The aneuploidy frequency remains low, also ICSI can be proposed to these patients, but few successes occur. The third group consists of "enlarged head teratozoospermia", where almost all spermatozoa have an enlarged head, multiple tail and abnormal acrosome. In this case a very high level of missegregation is observed, leading to nearly 100% aneuploidy. In this particular group, ICSI must be refuted, and patients have to be redirected to other possibilities, like sperm donation.

Published
2005

27. Eucaryotic genome evolution through the spontaneous duplication of large chromosomal segments

Author

Romain Koszul, Bernard Dujon, Gilles Fischer, Sandrine Caburet, Régulation spatiale des Génomes - Spatial Regulation of Genomes, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Stabilité des génomes, Institut Pasteur [Paris], This work was supported in part by the CNRS (GDR 2354 ‘Génolevures II’). Purchase of the Affymetrix arrays was supported by the French ‘Ministère de la Recherche’. RK is the recipient of a CNRS BDI fellowship. BD is a member of the Institut Universitaire de France., Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), and Institut Pasteur [Paris] (IP)

Subjects
[SDV]Life Sciences [q-bio], Gene Dosage, MESH: Base Sequence, Genome, MESH: Eukaryotic Cells, MESH: Gene Dosage, chemistry.chemical_compound, 0302 clinical medicine, Trinucleotide Repeats, Gene Duplication, Gene duplication, MESH: Evolution, Molecular, Segmental duplication, Genetics, 0303 health sciences, General Neuroscience, MESH: Gene Duplication, Chromosome Mapping, MESH: Saccharomyces cerevisiae, MESH: Chromosomes, Fungal, Electrophoresis, Gel, Pulsed-Field, Eukaryotic Cells, MESH: Electrophoresis, Gel, Pulsed-Field, MESH: Genome, Fungal, Chromosomes, Fungal, Genome, Fungal, MESH: Chromosomes / chemistry, MESH: Computational Biology, Genome evolution, MESH: Trinucleotide Repeats, Genes, Fungal, Molecular Sequence Data, Saccharomyces cerevisiae, Biology, Gene dosage, General Biochemistry, Genetics and Molecular Biology, Article, Chromosomes, Evolution, Molecular, 03 medical and health sciences, Open Reading Frames, MESH: Genome, Molecular Biology, Gene, 030304 developmental biology, MESH: Molecular Sequence Data, General Immunology and Microbiology, Base Sequence, Breakpoint, Computational Biology, MESH: Open Reading Frames, MESH: Karyotyping, chemistry, Karyotyping, MESH: Chromosome Mapping, MESH: Genes, Fungal, 030217 neurology & neurosurgery, DNA
Abstract

International audience; There is growing evidence that duplications have played a major role in eucaryotic genome evolution. Sequencing data revealed the presence of large duplicated regions in the genomes of many eucaryotic organisms, and comparative studies have suggested that duplication of large DNA segments has been a continuing process during evolution. However, little experimental data have been produced regarding this issue. Using a gene dosage assay for growth recovery in Saccharomyces cerevisiae, we demonstrate that a majority of the revertant strains (58%) resulted from the spontaneous duplication of large DNA segments, either intra- or interchromosomally, ranging from 41 to 655 kb in size. These events result in the concomitant duplication of dozens of genes and in some cases in the formation of chimeric open reading frames at the junction of the duplicated blocks. The types of sequences at the breakpoints as well as their superposition with the replication map suggest that spontaneous large segmental duplications result from replication accidents. Aneuploidization events or suppressor mutations that do not involve large-scale rearrangements accounted for the rest of the reversion events (in 26 and 16% of the strains, respectively).

Published
2003

28. Adipocyte differentiation of multipotent cells established from human adipose tissue

Author

Christian Elabd, Anne Guezennec, Joelle Guesnet, Julien Astier, Gérard Ailhaud, Anne-Marie Rodriguez, Christian Dani, Ez-Zoubir Amri, Cécile Vernochet, Perla Saint-Marc, Frédéric Delteil, Institut de signalisation, biologie du développement et cancer (ISBDC), Centre National de la Recherche Scientifique (CNRS)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA), Yves Saint Laurent Beauté, Neuilly, France (YSL), and Yves Saint Laurent

Subjects
Leptin, Male, Time Factors, Cellular differentiation, Cell Culture Techniques, Adipose tissue, Dinoprost, Biochemistry, Polymerase Chain Reaction, Antioxidants, Culture Media, Serum-Free, chemistry.chemical_compound, 0302 clinical medicine, Adipocyte, MESH: Reverse Transcriptase Polymerase Chain Reaction, Adipocytes, MESH: Animals, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Cells, Cultured, 0303 health sciences, MESH: Culture Media, Conditioned, Reverse Transcriptase Polymerase Chain Reaction, Cell Differentiation, MESH: Dinoprost, MESH: Culture Media, Serum-Free, MESH: Glucose, Adipose Tissue, Adipogenesis, Adrenergic beta-1 Receptor Agonists, 030220 oncology & carcinogenesis, Female, Stem cell, MESH: Adipose Tissue, MESH: Cells, Cultured, MESH: DNA Primers, MESH: Cell Differentiation, medicine.medical_specialty, Adipose tissue macrophages, MESH: Biological Transport, Biophysics, Adrenergic beta-3 Receptor Agonists, Biology, 03 medical and health sciences, Internal medicine, medicine, MESH: Blotting, Northern, Animals, Humans, Masoprocol, Cell Lineage, Molecular Biology, Adrenergic beta-2 Receptor Agonists, MESH: Adipocytes, 030304 developmental biology, DNA Primers, MESH: Cell Culture Techniques, MESH: Humans, Tumor Necrosis Factor-alpha, MESH: Time Factors, MESH: Antioxidants, 3T3-L1, MESH: Polymerase Chain Reaction, Biological Transport, Cell Biology, MESH: Leptin, MESH: Cell Lineage, Blotting, Northern, MESH: Male, Endocrinology, MESH: Karyotyping, Glucose, chemistry, Multipotent Stem Cell, MESH: Tumor Necrosis Factor-alpha, Culture Media, Conditioned, Karyotyping, MESH: Nordihydroguaiaretic Acid, MESH: Receptors, Adrenergic, beta-1, MESH: Receptors, Adrenergic, beta-3, MESH: Female, MESH: Receptors, Adrenergic, beta-2
Abstract

International audience; In this study multipotent adipose-derived stem cells isolated from human adipose tissue (hMADS cells) were shown to differentiate into adipose cells in serum-free, chemically defined medium. During the differentiation process, hMADS cells exhibited a gene expression pattern similar to that described for rodent clonal preadipocytes and human primary preadipocytes. Differentiated cells displayed the key features of human adipocytes, i.e., expression of specific molecular markers, lipolytic response to agonists of beta-adrenoreceptors (beta2-AR agonist > beta1-AR agonist >> beta3-AR agonist) and to the atrial natriuretic peptide, insulin-stimulated glucose transport, and secretion of leptin and adiponectin. hMADS cells were able to respond to drugs as inhibition of adipocyte differentiation was observed in the presence of prostaglandin F2alpha, tumour necrosis factor-alpha, and nordihydroguaiaretic acid, a natural polyhydroxyphenolic antioxidant. Thus, for the first time, human adipose cells with normal karyotype and indefinite life span have been established. They represent a novel and valuable tool for studies of fat tissue development and metabolism.

Published
2003

29. Genomic polymorphism of Leishmania infantum: a relationship with clinical pleomorphism?

Author

Ikram Guizani, Souheila Guerbouj, D. Le Ray, Jean-Claude Dujardin, Niko Speybroeck, Laboratoire d'Epidémiologie et d'Ecologie parasitaire, Institut Pasteur de Tunis, Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Institute of Tropical Medicine [Antwerp] (ITM), Laboratoire d'Epidémiologie Moléculaire et de Pathologie Expérimentale Appliquée aux Maladies Infectieuses (LR11IPT04), Université de Tunis El Manar (UTM)-Institut Pasteur de Tunis, This work received financial support from the INCO-DC DGXII-program of the European Community (Contract No. IC18-CT98-0256) and from the SERST-PNM96 program (Tunisia) Contract No. P96BSP46., We are grateful to Professor J.P. Dedet and Dr. C. Blaineau, Laboratoire de Parasitologie, Faculté de Médecine, Montpellier, France, for kindly providing the L. infantum isolates and to M.E. Wilson, University of Iowa, USA, E. Handman, Melbourne, Australia, S. Roberts, Oregon Health Sciences University, Portland, Oregon, USA, S. Reed, Seattle Biomedical Research Institute, Seattle, USA, and G. Van Eys, University of Maastricht, The Netherlands, who kindly provided gp63, PSA-2, ODC, K39 and rDNA probes, respectively. We also thank S. De Doncker, Prins Leopold Instituut voor Tropische Geneeskunde, Protozoology Unit, Antwerpen, Belgium, for technical support.

Subjects
0302 clinical medicine, Repeated genes, Pathology, Parasite hosting, MESH: Animals, Leishmania infantum, MESH: Phylogeny, Phylogeny, Genetics, 0303 health sciences, biology, MESH: France/epidemiology, Phenotype, 3. Good health, MESH: Chromosomes/genetics, Infectious Diseases, [SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, Leishmaniasis, Visceral, France, Microbiology (medical), 030231 tropical medicine, Leishmaniasis, Cutaneous, Genomics, Genome rearrangement, MESH: Leishmania infantum/physiology, MESH: Phenotype, Microbiology, Chromosomes, MESH: Leishmaniasis, Cutaneous/epidemiology, 03 medical and health sciences, MESH: Polymorphism, Genetic, Antigen, parasitic diseases, medicine, Animals, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Molecular Biology, Gene, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, MESH: Leishmaniasis, Visceral/epidemiology, MESH: Leishmaniasis, Cutaneous/parasitology, MESH: Humans, Polymorphism, Genetic, Chromosome, Leishmaniasis, medicine.disease, biology.organism_classification, Molecular biology, MESH: Karyotyping, Karyotyping, MESH: Leishmaniasis, Visceral/parasitology, MESH: Leishmania infantum/genetics
Abstract

International audience; Leishmania infantum is the etiological agent of visceral (VL) and a cutaneous form (CL) of leishmaniasis around the Mediterranean Basin. In order to document the parasite genetic background corresponding to this clinical diversity, chromosome size polymorphism was analysed in 32 French isolates (18 CL and 14 VL) originating from the Cévennes and the Pyrénées Orientales (PO), and corresponding to zymodemes MON-1 and MON-29. Five chromosomes bearing tandemly repeated genes encoding for important antigens (gp63, PSA-2 and K39) or key metabolic functions (mini-exon and rDNA) were studied. Significant size variation (100–270 kbp) was observed for chromosomes bearing mini-exon, PSA-2 and rDNA genes, which involved variation in copy number of corresponding genes. The two other chromosomes showed smaller size-variation and did not involve dosage of gp63 and K39 genes. Chromosomal size showed correlation with geography and clinical origin: (i) chromosome 2 (mini-exon) was found to be significantly smaller in the PO; (ii) chromosomes 12 (PSA-2) and 27 (rDNA) were significantly smaller in the strictly cutaneous MON-29 isolates. Gene rearrangements and their synergistic effects on the phenotypic expression of the parasite are discussed.

Published
2003

30. Identical abnormality of the short arm of chromosome 18 in two Philadelphia-positive chronic myelocytic leukemia patients with erythroblastic transformation, resulting in duplication of BCR-ABL1 fusion

Author

Roland Berger, Michel Arock, Hélène Merle-Béral, Frederic Davi, Florence Nguyen Khac, Antoine Ribadeau-Dumas, Isabelle Radford-Weiss, Maryvonne Busson, Marie Agnès Collonge-Rame, Marie-Claude Piffaut, Marie-Thérèse Daniel, Marie Christine Waill, Serge Romana, Laboratoire de Cytogénétique, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-CHU Necker - Enfants Malades [AP-HP], Différenciation Cellulaire et Croissance (DCC), Université Montpellier 2 - Sciences et Techniques (UM2)-Institut National de la Recherche Agronomique (INRA), Cellules souches mésenchymateuses, environnement articulaire et immunothérapies de la polyarthrite rhumatoide, Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM), Cytokines, hématopoïèse et réponse immune (CHRI), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire des Sciences de l'Information et des Systèmes (LSIS), Aix Marseille Université (AMU)-Université de Toulon (UTLN)-Arts et Métiers Paristech ENSAM Aix-en-Provence-Centre National de la Recherche Scientifique (CNRS), Institut de recherches sur la catalyse et l'environnement de Lyon (IRCELYON), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Laboratoire de chimie organique et organométallique (LCOO), Université Sciences et Technologies - Bordeaux 1-Centre National de la Recherche Scientifique (CNRS), Institut de Chimie de la Matière Condensée de Bordeaux (ICMCB), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Service d'hématologie biologique [CHU Pitié-Salpêtrière], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Laboratoire de Biologie et de Pharmacologie Appliquée (LBPA), École normale supérieure - Cachan (ENS Cachan)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Recherche Agronomique (INRA)-Université Montpellier 2 - Sciences et Techniques (UM2), Université de Lyon-Université de Lyon-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Université Sciences et Technologies - Bordeaux 1 (UB)-Centre National de la Recherche Scientifique (CNRS), Université de Bordeaux (UB)-Institut Polytechnique de Bordeaux-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1), Centre National de la Recherche Scientifique (CNRS)-Arts et Métiers Paristech ENSAM Aix-en-Provence-Université de Toulon (UTLN)-Aix Marseille Université (AMU), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC), Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Institut Polytechnique de Bordeaux-Université de Bordeaux (UB), Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Descartes - Paris 5 ( UPD5 ) -CHU Necker - Enfants Malades [AP-HP], Différenciation Cellulaire et Croissance ( DCC ), Institut National de la Recherche Agronomique ( INRA ) -Université Montpellier 2 - Sciences et Techniques ( UM2 ), Université Montpellier 1 ( UM1 ) -IFR3-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Cytokines, hématopoïèse et réponse immune ( CHRI ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Laboratoire des Sciences de l'Information et des Systèmes ( LSIS ), Aix Marseille Université ( AMU ) -Université de Toulon ( UTLN ) -Arts et Métiers Paristech ENSAM Aix-en-Provence-Centre National de la Recherche Scientifique ( CNRS ), Institut de recherches sur la catalyse et l'environnement de Lyon ( IRCELYON ), Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique ( CNRS ), Laboratoire de chimie organique et organométallique ( LCOO ), Université Sciences et Technologies - Bordeaux 1-Centre National de la Recherche Scientifique ( CNRS ), Institut de Chimie de la Matière Condensée de Bordeaux ( ICMCB ), Centre National de la Recherche Scientifique ( CNRS ) -Université de Bordeaux ( UB ), Service d'hématologie biologique, Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Laboratoire de Biologie et de Pharmacologie Appliquée ( LBPA ), and École normale supérieure - Cachan ( ENS Cachan ) -Centre National de la Recherche Scientifique ( CNRS )

Subjects
Cancer Research, Erythrocytes, Chromosomes, Human, Pair 22, bcr-abl, MESH : Aged, MESH : Chromosomes, Human, Pair 22, Fusion Proteins, bcr-abl, Chromosomal translocation, Cell Transformation, Translocation, Genetic, 0302 clinical medicine, MESH: Aged, 80 and over, MESH : Translocation, Genetic, Gene Duplication, hemic and lymphatic diseases, 80 and over, [ SDV.IMM ] Life Sciences [q-bio]/Immunology, MESH : Female, MESH: In Situ Hybridization, Fluorescence, MESH : Karyotyping, Chronic, MESH: Chromosomes, Human, Pair 22, In Situ Hybridization, Fluorescence, In Situ Hybridization, Aged, 80 and over, Genetics, MESH: Aged, 0303 health sciences, Leukemia, ABL, MESH: Middle Aged, medicine.diagnostic_test, MESH: Erythrocytes, MESH: Gene Duplication, MESH : Chromosomes, Human, Pair 18, MESH : Fusion Proteins, bcr-abl, Middle Aged, MESH: Translocation, Genetic, MESH : In Situ Hybridization, Fluorescence, Cell Transformation, Neoplastic, 030220 oncology & carcinogenesis, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, Human, MESH : Gene Duplication, MESH : Chromosome Aberrations, Translocation, Blastic Phase, Biology, Philadelphia chromosome, Chromosomes, Fluorescence, 03 medical and health sciences, Genetic, Chromosome 18, Leukemia, Myelogenous, Chronic, BCR-ABL Positive, medicine, Humans, MESH: Chromosome Aberrations, MESH : Middle Aged, MESH : Aged, 80 and over, Molecular Biology, Aged, 030304 developmental biology, Chromosome Aberrations, Neoplastic, Pair 18, MESH: Humans, MESH: Fusion Proteins, bcr-abl, MESH : Humans, Fusion Proteins, MESH : Cell Transformation, Neoplastic, Gene rearrangement, medicine.disease, Molecular biology, MESH: Karyotyping, MESH: Leukemia, Myelogenous, Chronic, BCR-ABL Positive, MESH: Cell Transformation, Neoplastic, Karyotyping, MESH : Leukemia, Myelogenous, Chronic, BCR-ABL Positive, BCR-ABL Positive, Pair 22, Chromosomes, Human, Pair 18, MESH: Chromosomes, Human, Pair 18, Chromosome 22, MESH: Female, MESH : Erythrocytes, Myelogenous, Fluorescence in situ hybridization
Abstract

Two patients with Ph-positive chronic myelocytic leukemia in erythroblastic transformation and rearrangement of the short arm of chromosome 18 are reported. Fluorescence in situ hybridization studies showed that the 18p rearrangement resulted from translocation of the main part of chromosome 22 long arm to 18p, including BCR-ABL1 fusion. The 18p abnormality resulted, thus, in loss of 18p and duplication of BCR-ABL1 in both patients. The possible relation to the erythroblastic type of blastic phase is briefly discussed. In addition an apparently intact germline ABL1 gene was duplicated and inserted into chromosome 6 at band p21 in one of these patients.

Published
2002

31. Molecular and cytogenetic characterisation of a small interstitial de novo 20p13--p12.3 deletion in a patient with severe growth deficit

Author

Leprêtre F, Claire MONTPELLIER, Delannoy V, Froguel P, Vasseur F, Assemblage et réplication du virus de l'hépatite C (ARVHC), Centre National de la Recherche Scientifique (CNRS), Génétique des maladies multifactorielles (GMM), Université de Lille, Droit et Santé-Centre National de la Recherche Scientifique (CNRS), Section of Genomic Medicine, Imperial College London, Genome Centre, Imperial College London-Hammersmith campus, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), and Froguel, Philippe

Subjects
Male, MESH: Pedigree, MESH: Chromosome Deletion, Chromosomes, Human, Pair 20, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, White People, Contig Mapping, MESH: Chromosomes, Human, Pair 20, Humans, MESH: In Situ Hybridization, Fluorescence, MESH: Contig Mapping, Alleles, Growth Disorders, In Situ Hybridization, Fluorescence, MESH: Humans, MESH: Alleles, Infant, MESH: European Continental Ancestry Group, MESH: Haplotypes, MESH: Growth Disorders, MESH: Infant, MESH: Male, Chromosome Banding, Pedigree, MESH: Karyotyping, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Haplotypes, Karyotyping, MESH: Chromosome Banding, Female, MESH: Microsatellite Repeats, Chromosome Deletion, MESH: Female, Microsatellite Repeats
Abstract

We report on a small de novo interstitial deletion of the short arm of chromosome 20, 46,XY,del(20)(p12.3p13), in a young boy with hypotonia, moderate development delay, mild facial dysmorphism and severe growth failure. This patient did not show major features of Alagille-Watson Syndrome (AWS) which are common in more proximal 20p deletions. Standard and high resolution chromosome banding analysis revealed an apparent terminal deletion. Nevertheless, using chromosomal fluorescent in situ hybridization (FISH) and molecular analysis with polymorphic markers, we demonstrated that the abnormal chromosome resulted from a de novo interstitial deletion of paternal origin spanning from D20S842 to D20S900 and covering approximately 6 Mb. These findings indicate that a karyotype can lead to insufficient characterization of an apparently terminal deletion, and that one or a few genes in 20p13-->p12.3 bands are important for normal growth.

Published
2002

32. Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype

Author

Joly, G., Lapierre, J. - M., Ozilou, C., Gosset, P., Aurias, A, de Blois, M. - C., Prieur, M., Raoul, O., Munnich, A., Romana, S, Colleaux, Laurence, Vekemans, M., Turleau, C., Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

Subjects
Family Health, Male, MESH: Humans, MESH: Pedigree, MESH: Cytogenetic Analysis, Nucleic Acid Hybridization, MESH: Male, MESH: Intellectual Disability, Pedigree, MESH: Nucleic Acid Hybridization, MESH: Karyotyping, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Intellectual Disability, Karyotyping, Cytogenetic Analysis, MESH: Family Health, Humans, Female, MESH: In Situ Hybridization, Fluorescence, MESH: Female, In Situ Hybridization, Fluorescence
Abstract

International audience; Segmental aneusomy for small chromosomal regions has been shown to be a common cause of mental retardation and multiple congenital anomalies. A screening method for such chromosome aberrations that are not detected using standard cytogenetic techniques is needed. Recent studies have focused on detection of subtle terminal chromosome aberrations using subtelomeric probes. This approach however excludes significant regions of the genome where submicroscopic rearrangements are also liable to occur. The aim of the present study was to evaluate the efficiency of comparative genomic hybridisation (CGH) for screening of submicroscopic chromosomal rearrangements. CGH was performed in a cohort of 17 patients (14 families) with mental retardation, dysmorphic features and a normal karyotype. Five subtle unbalanced rearrangements were identified in 7 patients. Subsequent FISH studies confirmed these results. Although no interstitial submicroscopic rearrangement was detected in this small series, the study emphasises the value of CGH as a screening approach to detect subtle chromosome rearrangements in mentally retarded patients with dysmorphic features and a normal karyotype.

Published
2001

33. Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation

Author

Marguerite Prieur, Michel Vekemans, Laurence Colleaux, Arnold Munnich, Catherine Turleau, Catherine Ozilou, Valérie Cormier-Daire, Pierre Chauveau, Marlène Rio, Handicaps génétiques de l'enfant (Inserm U393), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP]

Subjects
Male, Genotype, Uniparental Heterodisomy, Biology, MESH: Intellectual Disability, MESH: Genotype, 03 medical and health sciences, Genomic Imprinting, Gene interaction, Intellectual Disability, Genetics, medicine, Humans, MESH: Chromosome Aberrations, Genotyping, Genetics (clinical), 030304 developmental biology, Chromosome Aberrations, Family Health, 0303 health sciences, MESH: Humans, MESH: Cytogenetic Analysis, 030305 genetics & heredity, MESH: Child, Preschool, MESH: DNA, Chromosome, Karyotype, DNA, medicine.disease, Oculocutaneous albinism, MESH: Male, MESH: Genomic Imprinting, Chromosome 17 (human), MESH: Karyotyping, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Child, Preschool, Karyotyping, Cytogenetic Analysis, MESH: Family Health, Female, MESH: Microsatellite Repeats, Genomic imprinting, MESH: Chromosomes, Human, Pair 17, MESH: Female, Chromosomes, Human, Pair 17, Microsatellite Repeats
Abstract

International audience; We report a segmental maternal uniparental heterodisomy of chromosome 17 (mat UPD17) in a 3-year-old boy presenting with hyperactivity, major instability, mental retardation and facial dysmorphism. Since conventional and high resolution karyotypes were normal, this patient was tested for cryptic telomeric rearrangements by using the recently developed fluorescent genotyping-based technology. The mat UPD17 segment extended for a small 11-cM region of the distal chromosome 17q. Trisomy 17 in circulating lymphocytes and skin fibroblasts was excluded. Our finding emphasizes the potential use of fluorescent genotyping to detect uniparental disomies and suggests that chromosome 17q25 should contain one or several imprinted genes of particular importance for brain development.

Published
2001

34. A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation

Author

Laurence Colleaux, Séverine Moindrault, Martine Le Merrer, Odile Raoult, Solange Heuertz, Valérie Cormier-Daire, Stanislas Lyonnet, François Cornelis, Marguerite Prieur, Monique Picq, Philippe Gosset, Catherine Ozilou, Marlène Rio, Serge Romana, Marie-Christine de Blois, Catherine Turleau, Arnold Munnich, Jeanne Amiel, Michel Vekemans, Handicaps génétiques de l'enfant (Inserm U393), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Génopole [Evry], Université d'Évry-Val-d'Essonne (UEVE), Laboratoire Histologie Embryologie Cytogénétique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], This work was supported by Centre National de la Recherche Scientifique and by Fondation pour la Recherche Médicale, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP]

Subjects
Male, Non-Mendelian inheritance, MESH: Genetic Markers, Translocation, Genetic, MESH: Genotype, Monosomy, 0302 clinical medicine, MESH: Child, Child, Genetics (clinical), Gene Rearrangement, Genetics, 0303 health sciences, MESH: Genetic Testing, 030305 genetics & heredity, Telomere, Subtelomere, MESH: Monosomy, MESH: Translocation, Genetic, Pedigree, Cytogenetic Analysis, Microsatellite, %22">Fish , Chromosomes, Human, Pair 6, Female, Genetic Markers, Genotype, MESH: Chromosomes, Human, Pair 6, MESH: Pedigree, MESH: Gene Rearrangement, Biology, MESH: Intellectual Disability, 03 medical and health sciences, Intellectual Disability, Humans, Genetic Testing, Genotyping, MESH: Humans, Chromosomes, Human, Pair 10, MESH: Cytogenetic Analysis, MESH: Male, MESH: Karyotyping, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Genetic marker, MESH: Chromosomes, Human, Pair 10, Karyotyping, MESH: Telomere, MESH: Female, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery, Uniparental Disomies, MESH: Chromosomes, Human, Pair 16
Abstract

International audience; Cryptic unbalanced subtelomeric rearrangements are known to cause a significant proportion of idiopathic mental retardation in childhood. Because of the limited sensitivity of routine analyses, the cytogenetic detection of such rearrangements requires molecular techniques, namely FISH and comparative genomic hybridisation (CGH). An alternative approach consists in using genetic markers to detect segmental aneusomy. Here, we describe a new strategy based upon automated fluorescent genotyping to search for non mendelian segregation of telomeric microsatellites. A total of 29 individuals belonging to 24 unrelated families were screened and three abnormal patterns of segregation were detected (two rearrangements and one parental disomy). This study gives strong support to the view that cryptic telomeric rearrangements significantly contribute to idiopathic mental retardation and demonstrates that fluorescent genotyping is a very sensitive and cost-effective method to detect deletions, duplications and uniparental disomies.

Published
2001

35. The human EZH2 gene: genomic organisation and revised mapping in 7q35 within the critical region for malignant myeloid disorders

Author

Gilles Hetet, Laurence Colleaux, Carlos Cardoso, Michel Fontes, Cecile Mignon, Bernard Grandchamps, Département de génétique médicale [Hôpital de la Timone - APHM], and Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)

Subjects
Candidate gene, Chromosomes, Human, Pair 21, MESH: Sequence Homology, Amino Acid, MESH: Leukemia, Monocytic, Acute, MESH: Amino Acid Sequence, 0302 clinical medicine, MESH: Chromosomes, Human, Pair 21, Drosophila Proteins, Genetics (clinical), Genetics, 0303 health sciences, EZH2, Polycomb Repressive Complex 2, Chromosome Mapping, Nuclear Proteins, Exons, 3. Good health, MESH: Repressor Proteins, 030220 oncology & carcinogenesis, Leukemia, Monocytic, Acute, Cosmid, Homeotic gene, Chromosomes, Human, Pair 7, MESH: Polycomb Repressive Complex 2, MESH: Chromosomes, Human, Pair 7, MESH: Drosophila Proteins, Pseudogene, Molecular Sequence Data, macromolecular substances, Biology, 03 medical and health sciences, Humans, Amino Acid Sequence, Enhancer, Gene, MESH: Genome, Human, 030304 developmental biology, MESH: Humans, MESH: Molecular Sequence Data, Sequence Homology, Amino Acid, Genome, Human, Repressor Proteins, MESH: Karyotyping, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Karyotyping, Chromosome 21, MESH: Chromosome Mapping, MESH: Exons, MESH: Nuclear Proteins
Abstract

International audience; The EZH2 gene is a homolog of the Drosophila Polycomb group (PcG) gene enhancer of zest, a crucial regulator of homeotic gene expression. Several lines of evidence suggest a critical role for the EZH2 protein during normal and perturbed development of the haematopoietic and central nervous systems. Indeed, the EZH2 protein has been shown to associate with the Vav proto-oncoprotein and with the XNP protein, the product of a mental retardation gene. The EZH2 gene was previously reported to be located on chromosome 21q22 and was proposed as a candidate gene for some characteristics of the Down syndrome phenotype. We report here the genomic structure and fine mapping of the EZH2 gene. We demonstrate that the functional gene actually maps to chromosome 7q35 and that the sequence previously isolated from a chromosome 21 cosmid corresponds to a pseudogene. Finally, the nature of the EZH2 protein and its mapping to the critical region for malignant myeloid disorders lead us to propose the EZH2 gene is involved in the pathogenesis of 7q35-q36 aberrations in myeloid leukaemia.

Published
2000

36. [Rubinstein-Taybi syndrome: nipple hypertrophy]

Author

Rousseau, M, Tachji, K, BELTRAN ANZOLA, Any, and Fédération des hôpitaux de polyhandicap et multihandicap hôpital San Salvadour, Assistance publique-Hôpitaux de Paris

Subjects
MESH: Humans, MESH: Karyotyping, MESH: Hypertrophy, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, MESH: Electroencephalography, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, MESH: Adult, MESH: Nipples, MESH: Female, MESH: Rubinstein-Taybi Syndrome, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2000

37. Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region

Author

Dahl, N, Hu, L, Chery, M, Fardeau, M, Gilgenkrantz, S, Nivelon-Chevallier, A, Sidaner-Noisette, I, Mugneret, F, Gouyon, J, Gal, A, Kioschis, Petra, d'Urso, M., Mandel, Jean-Louis, Laboratoire de Biologie structurale, Institut National de la Santé et de la Recherche Médicale (INSERM), and univOAK, Archive ouverte

Subjects
Adult, MESH: Muscles, congenital, hereditary, and neonatal diseases and abnormalities, X Chromosome, MESH: Pedigree, In Vitro Techniques, MESH: Chromosomes, Human, Muscular Diseases, Dosage Compensation, Genetic, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Chromosomes, Human, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, MESH: Sex Chromosome Aberrations, Sex Chromosome Aberrations, Sequence Deletion, MESH: In Vitro Techniques, MESH: X Chromosome, MESH: Humans, Muscles, MESH: Muscular Diseases, Chromosome Mapping, Infant, MESH: Adult, Original Articles, MESH: Sequence Deletion, MESH: Infant, MESH: Dosage Compensation, Genetic, Chromosome Banding, Pedigree, MESH: Karyotyping, Karyotyping, MESH: DNA Probes, MESH: Chromosome Banding, Female, MESH: Chromosome Mapping, DNA Probes, MESH: Female
Abstract

International audience; A young girl with a clinically moderate form of myotubular myopathy was found to carry a cytogenetically detectable deletion in Xq27-q28. The deletion had occurred de novo on the paternal X chromosome. It encompasses the fragile X (FRAXA) and Hunter syndrome (IDS) loci, and the DXS304 and DXS455 markers, in Xq27.3 and proximal Xq28. Other loci from the proximal half of Xq28 (DXS49, DXS256, DXS258, DXS305, and DXS497) were found intact. As the X-linked myotubular myopathy locus (MTM1) was previously mapped to Xq28 by linkage analysis, the present observation suggested that MTM1 is included in the deletion. However, a significant clinical phenotype is unexpected in a female MTM1 carrier. Analysis of inactive X-specific methylation at the androgen receptor gene showed that the deleted X chromosome was active in approximately 80% of leukocytes. Such unbalanced inactivation may account for the moderate MTM1 phenotype and for the mental retardation that later developed in the patient. This observation is discussed in relation to the hypothesis that a locus modulating X inactivation may lie in the region. Comparison of this deletion with that carried by a male patient with a severe Hunter syndrome phenotype but no myotubular myopathy, in light of recent linkage data on recombinant MTM1 families, led to a considerable refinement of the position of the MTM1 locus, to a region of approximately 600 kb, between DXS304 and DXS497.

Published
1995

38. [Gene amplification and chromosomal rearrangements during acquisition of cellular resistance to the antimetabolite coformycin]

Author

Debatisse, Michelle, Toledo, Franck, Buttin, Gérard, Génétique Somatique, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), and Toledo, Franck

Subjects
MESH: Gene Rearrangement, [SDV]Life Sciences [q-bio], Drug Resistance, MESH: Cricetinae, MESH: Gene Amplification, MESH: Drug Resistance, Multiple, MESH: Interphase, Cricetinae, MESH: Chromosome Aberrations, Animals, MESH: Animals, MESH: In Situ Hybridization, Fluorescence, Interphase, Cells, Cultured, In Situ Hybridization, Fluorescence, Chromosome Aberrations, Gene Rearrangement, Coformycin, MESH: Clone Cells, Gene Amplification, Fibroblasts, Drug Resistance, Multiple, Clone Cells, [SDV] Life Sciences [q-bio], MESH: Karyotyping, MESH: Fibroblasts, Karyotyping, MESH: Drug Resistance, MESH: Coformycin, MESH: Sister Chromatid Exchange, Sister Chromatid Exchange, MESH: Cells, Cultured
Abstract

International audience; We studied the early stages of gene amplification in a Chinese hamster cell line and we show that two distinct mechanisms can operate at a single locus. Both of them rely on an unequal segregation of gene copies at mitosis. We conclude that cycles of chromatid breakage, followed by fusion of sister chromatids devoid of a telomere that lead to further breaks in mitosis, have a key role in the coupling of gene amplification and genome remodeling. Rearrangements are first limited to a single chromosome but can then potentially spread to any additional chromosome. Occasionally, a sequence containing the selected gene can be looped out, generating a "double minute" and thus initiating an independent process of extrachromosomal amplification.

Published
1994

39. Assignment of the humanhap retinoic acid receptor RARβ gene to the p24 band of chromosome 3

Author

Marie-Geneviève Mattei, Hugues de Thé, Jean-François Mattei, Agnès Marchio, Pierre Tiollais, Anne Dejean, Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital de la Timone [CHU - APHM] (TIMONE), Recombinaison et expression génétique, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), This work was supported by NIH grant CA-97300 and the Fondation pour la Recherche Médicale., Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), and Cheriet Rauline, Samia

Subjects
Receptors, Retinoic Acid, [SDV]Life Sciences [q-bio], Retinoic acid, Retinoic acid receptor beta, MESH: Genetic Markers, MESH: Nucleic Acid Hybridization, chemistry.chemical_compound, 0302 clinical medicine, MESH: Liver Neoplasms, MESH: Carcinoma, Hepatocellular, Genetics (clinical), 0303 health sciences, Liver Neoplasms, MESH: DNA, virus diseases, Chromosome Mapping, Nucleic Acid Hybridization, [SDV] Life Sciences [q-bio], MESH: Hepatitis B virus, 030220 oncology & carcinogenesis, Multigene Family, embryonic structures, MESH: Chromosome Banding, Chromosomes, Human, Pair 3, Genetic Markers, Hepatitis B virus, Carcinoma, Hepatocellular, education, MESH: Chromosomes, Human, Pair 3, Tretinoin, MESH: Carrier Proteins, In situ hybridization, Biology, 03 medical and health sciences, Gene mapping, stomatognathic system, Genetics, Humans, Gene, 030304 developmental biology, MESH: Receptors, Retinoic Acid, MESH: Humans, MESH: Tretinoin, DNA, Molecular biology, Human genetics, Chromosome Banding, Retinoic acid receptor, MESH: Karyotyping, Chromosome 3, chemistry, Karyotyping, Cancer research, MESH: Multigene Family, Carrier Proteins, MESH: Chromosome Mapping
Abstract

International audience; The human hap retinoic acid receptor RAR beta has been localized by in situ hybridization to the p24 band of chromosome 3.

Published
1988

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