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1. Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

Author

Layo-Carris, DE, Lubin, EE, Sangree, AK, Clark, KJ, Durham, EL, Gonzalez, EM, Smith, S, Angireddy, R, Wang, XM, Weiss, E, Mendoza-Londono, R, Dupuis, L, Damseh, N, Velasco, D, Valenzuela, I, Codina-Sola, M, Ziats, C, Have, J, Clarkson, K, Steel, D, Kurian, M, Barwick, K, Carrasco, D, Dagli, AI, Nowaczyk, MJM, Hancarova, M, Bendova, S, Prchalova, D, Sedlacek, Z, Baxova, A, Nowak, CB, Douglas, J, Chung, WK, Longo, N, Platzer, K, Kloeckner, C, Averdunk, L, Wieczorek, D, Krey, I, Zweier, C, Reis, A, Balci, T, Simon, M, Kroes, HY, Wiesener, A, Vasileiou, G, Marinakis, NM, Veltra, D, Sofocleous, C, Kosma, K, Synodinos, JT, Voudris, KA, Vuillaume, M-L, Gueguen, P, Derive, N, Colin, E, Battault, C, Au, B, Delatycki, M, Wallis, M, Gallacher, L, Majdoub, F, Smal, N, Weckhuysen, S, Schoonjans, A-S, Kooy, RF, Meuwissen, M, Cocanougher, BT, Taylor, K, Pizoli, CE, McDonald, MT, James, P, Roeder, ER, Littlejohn, R, Borja, NA, Thorson, W, King, K, Stoeva, R, Suerink, M, Nibbeling, E, Baskin, S, Guyader, GLE, Kaplan, J, Muss, C, Carere, DA, Bhoj, EJK, Bryant, LM, Layo-Carris, DE, Lubin, EE, Sangree, AK, Clark, KJ, Durham, EL, Gonzalez, EM, Smith, S, Angireddy, R, Wang, XM, Weiss, E, Mendoza-Londono, R, Dupuis, L, Damseh, N, Velasco, D, Valenzuela, I, Codina-Sola, M, Ziats, C, Have, J, Clarkson, K, Steel, D, Kurian, M, Barwick, K, Carrasco, D, Dagli, AI, Nowaczyk, MJM, Hancarova, M, Bendova, S, Prchalova, D, Sedlacek, Z, Baxova, A, Nowak, CB, Douglas, J, Chung, WK, Longo, N, Platzer, K, Kloeckner, C, Averdunk, L, Wieczorek, D, Krey, I, Zweier, C, Reis, A, Balci, T, Simon, M, Kroes, HY, Wiesener, A, Vasileiou, G, Marinakis, NM, Veltra, D, Sofocleous, C, Kosma, K, Synodinos, JT, Voudris, KA, Vuillaume, M-L, Gueguen, P, Derive, N, Colin, E, Battault, C, Au, B, Delatycki, M, Wallis, M, Gallacher, L, Majdoub, F, Smal, N, Weckhuysen, S, Schoonjans, A-S, Kooy, RF, Meuwissen, M, Cocanougher, BT, Taylor, K, Pizoli, CE, McDonald, MT, James, P, Roeder, ER, Littlejohn, R, Borja, NA, Thorson, W, King, K, Stoeva, R, Suerink, M, Nibbeling, E, Baskin, S, Guyader, GLE, Kaplan, J, Muss, C, Carere, DA, Bhoj, EJK, and Bryant, LM

Abstract

Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1-4]. This syndrome is characterized by developmental delay/intellectual disability, craniofacial anomalies, hyper/hypotonia, and abnormal neuroimaging [1, 5]. BLBS was initially categorized as a progressive neurodegenerative syndrome caused by de novo heterozygous variants in either H3-3A or H3-3B [1-4]. Here, we analyze the data of the 58 previously published individuals along 38 unpublished, unrelated individuals. In this larger cohort of 96 people, we identify causative missense, synonymous, and stop-loss variants. We also expand upon the phenotypic characterization by elaborating on the neurodevelopmental component of BLBS. Notably, phenotypic heterogeneity was present even amongst individuals harboring the same variant. To explore the complex phenotypic variation in this expanded cohort, the relationships between syndromic phenotypes with three variables of interest were interrogated: sex, gene containing the causative variant, and variant location in the H3.3 protein. While specific genotype-phenotype correlations have not been conclusively delineated, the results presented here suggest that the location of the variants within the H3.3 protein and the affected gene (H3-3A or H3-3B) contribute more to the severity of distinct phenotypes than sex. Since these variables do not account for all BLBS phenotypic variability, these findings suggest that additional factors may play a role in modifying the phenotypes of affected individuals. Histones are poised at the interface of genetics and epigenetics, highlighting the potential role for gene-environment interactions and the importance of future research.

Published
2024

2. Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (vol 3, 2024, 59)

Author

Layo-Carris, DE, Lubin, EE, Sangree, AK, Clark, KJ, Durham, EL, Gonzalez, EM, Smith, S, Angireddy, R, Wang, XM, Weiss, E, Toutain, A, Mendoza-Londono, R, Dupuis, L, Damseh, N, Velasco, D, Valenzuela, I, Codina-Sola, M, Ziats, C, Have, J, Clarkson, K, Steel, D, Kurian, M, Barwick, K, Carrasco, D, Dagli, AI, Nowaczyk, MJM, Hancarova, M, Bendova, S, Prchalova, D, Sedlacek, Z, Baxova, A, Nowak, CB, Douglas, J, Chung, WK, Longo, N, Platzer, K, Klockner, C, Averdunk, L, Wieczorek, D, Krey, I, Zweier, C, Reis, A, Balci, T, Simon, M, Kroes, HY, Wiesener, A, Vasileiou, G, Marinakis, NM, Veltra, D, Sofocleous, C, Kosma, K, Synodinos, JT, Voudris, KA, Vuillaume, M-L, Gueguen, P, Derive, N, Colin, E, Battault, C, Au, B, Delatycki, M, Wallis, M, Gallacher, L, Majdoub, F, Smal, N, Weckhuysen, S, Schoonjans, A-S, Kooy, RF, Meuwissen, M, Cocanougher, BT, Taylor, K, Pizoli, CE, Mcdonald, MT, James, P, Roeder, ER, Littlejohn, R, Borja, NA, Thorson, W, King, K, Stoeva, R, Suerink, M, Nibbeling, E, Baskin, S, Guyader, GLE, Kaplan, J, Muss, C, Carere, DA, Bhoj, EJK, Bryant, LM, Layo-Carris, DE, Lubin, EE, Sangree, AK, Clark, KJ, Durham, EL, Gonzalez, EM, Smith, S, Angireddy, R, Wang, XM, Weiss, E, Toutain, A, Mendoza-Londono, R, Dupuis, L, Damseh, N, Velasco, D, Valenzuela, I, Codina-Sola, M, Ziats, C, Have, J, Clarkson, K, Steel, D, Kurian, M, Barwick, K, Carrasco, D, Dagli, AI, Nowaczyk, MJM, Hancarova, M, Bendova, S, Prchalova, D, Sedlacek, Z, Baxova, A, Nowak, CB, Douglas, J, Chung, WK, Longo, N, Platzer, K, Klockner, C, Averdunk, L, Wieczorek, D, Krey, I, Zweier, C, Reis, A, Balci, T, Simon, M, Kroes, HY, Wiesener, A, Vasileiou, G, Marinakis, NM, Veltra, D, Sofocleous, C, Kosma, K, Synodinos, JT, Voudris, KA, Vuillaume, M-L, Gueguen, P, Derive, N, Colin, E, Battault, C, Au, B, Delatycki, M, Wallis, M, Gallacher, L, Majdoub, F, Smal, N, Weckhuysen, S, Schoonjans, A-S, Kooy, RF, Meuwissen, M, Cocanougher, BT, Taylor, K, Pizoli, CE, Mcdonald, MT, James, P, Roeder, ER, Littlejohn, R, Borja, NA, Thorson, W, King, K, Stoeva, R, Suerink, M, Nibbeling, E, Baskin, S, Guyader, GLE, Kaplan, J, Muss, C, Carere, DA, Bhoj, EJK, and Bryant, LM

Published
2024

3. The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy

Author

Bergougnoux, A., primary, Billet, A., additional, Ka, C., additional, Heller, M., additional, Degrugillier, F., additional, Vuillaume, M.-L., additional, Thoreau, V., additional, Sasorith, S., additional, Bareil, C., additional, Thèze, C., additional, Ferec, C., additional, Gac, G. Le, additional, Bienvenu, T., additional, Bieth, E., additional, Gaston, V., additional, Lalau, G., additional, Pagin, A., additional, Malinge, M.-C., additional, Dufernez, F., additional, Lemonnier, L., additional, Koenig, M., additional, Fergelot, P., additional, Claustres, M., additional, Taulan-Cadars, M., additional, Kitzis, A., additional, Reboul, M.-P., additional, Becq, F., additional, Fanen, P., additional, Mekki, C., additional, Audrezet, M.-P., additional, Girodon, E., additional, and Raynal, C., additional

Published
2022
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4. SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance

Author

Cordovado, A., Schaettin, M., Jeanne, M., Panasenkava, V., Denomme-Pichon, A. -S., Keren, B., Mignot, C., Doco-Fenzy, M., Rodan, L., Ramsey, K., Narayanan, V., Jones, J. R., Prijoles, E. J., Mitchell, W. G., Ozmore, J. R., Juliette, K., Torti, E., Normand, E. A., Granger, L., Petersen, A. K., Au, M. G., Matheny, J. P., Phornphutkul, C., Chambers, M. -K., Fernandez-Ramos, J. -A., Lopez-Laso, E., Kruer, M. C., Bakhtiari, S., Zollino, Marcella, Morleo, M., Marangi, Giuseppe, Mei, D., Pisano, T., Guerrini, R., Louie, R. J., Childers, A., Everman, D. B., Isidor, B., Audebert-Bellanger, S., Odent, S., Bonneau, D., Gilbert-Dussardier, B., Redon, R., Bezieau, S., Laumonnier, F., Stoeckli, E. T., Toutain, A., Vuillaume, M. -L., Zollino M. (ORCID:0000-0003-4871-9519), Marangi G. (ORCID:0000-0002-6898-8882), Cordovado, A., Schaettin, M., Jeanne, M., Panasenkava, V., Denomme-Pichon, A. -S., Keren, B., Mignot, C., Doco-Fenzy, M., Rodan, L., Ramsey, K., Narayanan, V., Jones, J. R., Prijoles, E. J., Mitchell, W. G., Ozmore, J. R., Juliette, K., Torti, E., Normand, E. A., Granger, L., Petersen, A. K., Au, M. G., Matheny, J. P., Phornphutkul, C., Chambers, M. -K., Fernandez-Ramos, J. -A., Lopez-Laso, E., Kruer, M. C., Bakhtiari, S., Zollino, Marcella, Morleo, M., Marangi, Giuseppe, Mei, D., Pisano, T., Guerrini, R., Louie, R. J., Childers, A., Everman, D. B., Isidor, B., Audebert-Bellanger, S., Odent, S., Bonneau, D., Gilbert-Dussardier, B., Redon, R., Bezieau, S., Laumonnier, F., Stoeckli, E. T., Toutain, A., Vuillaume, M. -L., Zollino M. (ORCID:0000-0003-4871-9519), and Marangi G. (ORCID:0000-0002-6898-8882)

Abstract

Intellectual disability (ID) is a neurodevelopmental disorder frequently caused by monogenic defects. In this study, we collected 14 SEMA6B heterozygous variants in 16 unrelated patients referred for ID to different centers. Whereas, until now, SEMA6B variants have mainly been reported in patients with progressive myoclonic epilepsy, our study indicates that the clinical spectrum is wider and also includes non-syndromic ID without epilepsy or myoclonus. To assess the pathogenicity of these variants, selected mutated forms of Sema6b were overexpressed in Human Embryonic Kidney 293T (HEK293T) cells and in primary neuronal cultures. shRNAs targeting Sema6b were also used in neuronal cultures to measure the impact of the decreased Sema6b expression on morphogenesis and synaptogenesis. The overexpression of some variants leads to a subcellular mislocalization of SEMA6B protein in HEK293T cells and to a reduced spine density owing to loss of mature spines in neuronal cultures. Sema6b knockdown also impairs spine density and spine maturation. In addition, we conducted in vivo rescue experiments in chicken embryos with the selected mutated forms of Sema6b expressed in commissural neurons after knockdown of endogenous SEMA6B. We observed that expression of these variants in commissural neurons fails to rescue the normal axon pathway. In conclusion, identification of SEMA6B variants in patients presenting with an overlapping phenotype with ID and functional studies highlight the important role of SEMA6B in neuronal development, notably in spine formation and maturation and in axon guidance. This study adds SEMA6B to the list of ID-related genes.

Published
2022

5. Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

Author

Abdelfattah, F, Kariminejad, A, Kahlert, A, Morrison, PJ, Gumus, E, Mathews, KD, Darbro, BW, Amor, DJ, Walsh, M, Sznajer, Y, Weiss, L, Weidensee, S, Chitayat, D, Shannon, P, Bermejo-Sanchez, E, Riano-Galan, I, Hayes, I, Poke, G, Rooryck, C, Pennamen, P, Khung-Savatovsky, S, Toutain, A, Vuillaume, M-L, Ghaderi-Sohi, S, Kariminejad, MH, Weinert, S, Sticht, H, Zenker, M, Schanze, D, Abdelfattah, F, Kariminejad, A, Kahlert, A, Morrison, PJ, Gumus, E, Mathews, KD, Darbro, BW, Amor, DJ, Walsh, M, Sznajer, Y, Weiss, L, Weidensee, S, Chitayat, D, Shannon, P, Bermejo-Sanchez, E, Riano-Galan, I, Hayes, I, Poke, G, Rooryck, C, Pennamen, P, Khung-Savatovsky, S, Toutain, A, Vuillaume, M-L, Ghaderi-Sohi, S, Kariminejad, MH, Weinert, S, Sticht, H, Zenker, M, and Schanze, D

Abstract

Serine biosynthesis disorders comprise a spectrum of very rare autosomal recessive inborn errors of metabolism with wide phenotypic variability. Neu-Laxova syndrome represents the most severe expression and is characterized by multiple congenital anomalies and pre- or perinatal lethality. Here, we present the mutation spectrum and a detailed phenotypic analysis in 15 unrelated families with severe types of serine biosynthesis disorders. We identified likely disease-causing variants in the PHGDH and PSAT1 genes, several of which have not been reported previously. Phenotype analysis and a comprehensive review of the literature corroborates the evidence that serine biosynthesis disorders represent a continuum with varying degrees of phenotypic expression and suggest that even gradual differences at the severe end of the spectrum may be correlated with particular genotypes. We postulate that the individual residual enzyme activity of mutant proteins is the major determinant of the phenotypic variability, but further functional studies are needed to explore effects at the enzyme protein level.

Published
2020

6. Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability

Author

Vuillaume, M.-L., primary, Cogné, B., additional, Jeanne, M., additional, Boland, A., additional, Ung, D.-C., additional, Quinquis, D., additional, Besnard, T., additional, Deleuze, J.-F., additional, Redon, R., additional, Bézieau, S., additional, Laumonnier, F., additional, and Toutain, A., additional

Published
2018
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9. Grammaire, lexique, référence. Regards sur le sens : Mélanges offerts à Georges Kleiber pour ses quarante ans de carrière

Author

Vuillaume, M., Borillo, A., Saussure, L. de, Vuillaume, M., Borillo, A., and Saussure, L. de

Subjects
Reference sources, Grammar, Comparative and general, Vocabulary
Abstract

Cet ouvrage rassemble des articles de chercheurs familiers de l'œuvre fondatrice de Georges Kleiber en sémantique, qui a marqué d'une empreinte durable la recherche sur la grammaire, le lexique et la référence, qu'il s'agisse de l'immense corpus d'analyses qu'il a menées au cours de ses 40 ans de carrière ou de ses contributions théoriques cruciales sur la question, centrale s'il en est, du sens. Sa sémantique du prototype, notamment, a pour objectif de remettre au centre de la sémantique l'équilibre entre la référence pratique et les fondements cognitifs de l'organisation humaine des concepts. Les contributions rassemblées dans ce livre soit traitent directement de l'œuvre de Kleiber, soit offrent des exemples d'analyse sous-tendues par la démarche kleiberienne, qui s'inscrit comme prolongement de la méthode linguistique, dépourvue d'a priori tant sur le caractère opératoire de l'intuition linguistique que sur l'accord intersubjectif qui constitue le prérequis de toute dénotation. Les articles abordent divers faits linguistiques peu ou imparfaitement documentés, ou développent des considérations plus générales autour de quelques-uns des thèmes traditionnels de l'oeuvre de Kleiber.

Published
2012

10. Are all Xq26.2 duplications overlapping <italic>GPC3</italic> on array‐CGH a cause of Simpson‐Golabi‐Behmel syndrome? When do we need transcript analysis?

Author

Hammouche, E., Cottereau, E., Vuillaume, M.‐L., Moizard, M.‐P., Toutain, A., Delrue, M.‐A., Maftei, C., Perrin, L., Baumann, C., Dupont, C., and Drunat, S.

Subjects
X-linked genetic disorders, CHROMOSOME duplication, CONGENITAL disorders, COMPARATIVE genomic hybridization, GENETIC transcription
Abstract

The article presents a case study of two patients with Simpson-Golabi-Behmel syndrome (SGBS) caused by the loss of-function of the glypican-3 gene (GPC3) and which showed Xq26.2 duplication. It informs about the tandem duplication of GPC3 identified by array comparative genomic hybridization (array-CGH). It also recommends a molecular transcription analysis to assess a possible gene disruption.

Published
2018
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13. The GENOTEND Chip: A Tool to Analyse Gene Expression in Muscles of Beef Cattle

Author

Hocquette, J. F., Bernard-Capel, C., Vuillaume, M. L., Jesson, B., Levéziel, H., Isabelle Cassar-Malek, Unité de Recherches sur les Herbivores (URH), Institut National de la Recherche Agronomique (INRA), Institut de l'élevage (IDELE), IMAXIO, Unité de Génétique Moléculaire Animale (UMR GMA), Institut National de la Recherche Agronomique (INRA)-Université de Limoges (UNILIM), Unité Mixte de Recherches sur les Herbivores - UMR 1213 (UMRH), VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Recherche Agronomique (INRA), Institut de l'Elevage, Unité de Génétique Moléculaire Animale (UGMA), Université de Limoges (UNILIM)-Institut National de la Recherche Agronomique (INRA), Absent, G. Matteo Crovetto (Editeur), Unité Mixte de Recherches sur les Herbivores ( UMR 1213 Herbivores ), VetAgro Sup ( VAS ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Recherche Agronomique ( INRA ), Unité de Génétique Moléculaire Animale ( UGMA ), and Université de Limoges ( UNILIM ) -Institut National de la Recherche Agronomique ( INRA )

Subjects
[ SDV ] Life Sciences [q-bio], ANALYSE, quality, [SDV]Life Sciences [q-bio], tool
Abstract

absent

Published
2009

17. The p53-mediated DNA damage response to ionizing radiation in fibroblasts from ataxia-without-telangiectasia patients

Author

W. Jongmans, Vuillaume M, Janet Hall, Lakin Nd, and Kleijer Wj

Subjects
Cyclin-Dependent Kinase Inhibitor p21, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Ataxia, DNA damage, Immunoblotting, Gene Expression, Cell Cycle Proteins, Ataxia Telangiectasia Mutated Proteins, Biology, Protein Serine-Threonine Kinases, Gene product, Cyclins, medicine, Humans, Radiology, Nuclear Medicine and imaging, Northern blot, RNA, Messenger, Fibroblast, Cells, Cultured, Radiological and Ultrasound Technology, Cerebellar ataxia, Tumor Suppressor Proteins, Proteins, Fibroblasts, medicine.disease, Blotting, Northern, Molecular biology, DNA-Binding Proteins, medicine.anatomical_structure, Phenotype, Cell culture, Ataxia-telangiectasia, Mutation, medicine.symptom, Tumor Suppressor Protein p53, DNA Damage, Signal Transduction
Abstract

Purpose: To assess the functionality of the p53-mediated pathway, activated by the ataxia-telangiectasia gene product (ATM) in response to ionizing radiation, in cells derived from four ataxia-without-telangiectasia patients. These patients exhibit cerebellar ataxia and cellular abnormalities that are compatible with the diagnosis of ataxia-telangiectasia (AT), but the telangiectasias normally seen in AT patients are absent. Materials and method, Protein and RNA extracts were prepared from primary fibroblast cultures non- or exposed to 5 Gy of ionizing radiation in order to monitor the modulation in p53 and ATM protein levels by immunologic techniques and WAF1/Cip1(p21) mRNA by Northern blotting. Results: A sub-optimal response in terms of increased levels of p53 and the transcriptional activation of WAF1/Cip1(p21) was seen in the ataxia-without-teiangiectasia fibroblast cultures examined over a 4h period post-irradiation when compared with normal fibroblast cultures. The ATM protein was expressed at much reduced levels in the ataxia-without-teiangiectasia and the classical AT fibroblast cultures examined when compared with normal fibroblast cultures, Conclusions: Despite the milder clinical phenotypes observed in these ataxia-without-teiangiectasia patients and the presence of low levels of ATM protein in the fibroblast cultures, their response to ionizing radiation quantitatively resembles that reported in fibroblast cultures established from classical AT patients.

Published
1998

18. Regard sur l'aspect

Author

Norillo, A., Vetters, C, Vuillaume, M, and Rijksuniversiteit Groningen

Published
1998

21. POSTER VIEWING SESSION - ANDROLOGY

Author

Dul, E. C., primary, van Ravenswaaij-Arts, C. M. A., additional, Groen, H., additional, van Echten-Arends, J., additional, Land, J. A., additional, Tyulenev, Y., additional, Naumenko, V., additional, Kurilo, L., additional, Shileiko, L., additional, Segal, A., additional, Klimova, R., additional, Kushch, A., additional, Ribas-Maynou, J., additional, Garcia-Peiro, A., additional, Abad, C., additional, Amengual, M. J., additional, Benet, J., additional, Navarro, J., additional, Colasante, A., additional, Lobascio, A. M., additional, Scarselli, F., additional, Minasi, M. G., additional, Alviggi, E., additional, Rubino, P., additional, Casciani, V., additional, Pena, R., additional, Varricchio, M. T., additional, Litwicka, K., additional, Ferrero, S., additional, Zavaglia, D., additional, Franco, G., additional, Nagy, Z. P., additional, Greco, E., additional, Romany, L., additional, Meseguer, M., additional, Garcia-Herrero, S., additional, Pellicer, A., additional, Garrido, N., additional, Dam, A., additional, Pijnenburg, A., additional, Hendriks, J. C., additional, Westphal, J. R., additional, Ramos, L., additional, Kremer, J. A. M., additional, Eertmans, F., additional, Bogaert, V., additional, Puype, B., additional, Geisler, W., additional, Clusmann, C., additional, Klopsch, I., additional, Strowitzki, T., additional, Eggert-Kruse, W., additional, Maettner, R., additional, Isachenko, E., additional, Isachenko, V., additional, Strehler, E., additional, Sterzik, K., additional, Band, G., additional, Madgar, I., additional, Brietbart, H., additional, Naor, Z., additional, Cunha-Filho, J. S., additional, Souza, C. A., additional, Krebs, V. G., additional, Santos, K. D., additional, Koff, W. J., additional, Stein, A., additional, Hammoud, I., additional, Albert, M., additional, Bergere, M., additional, Bailly, M., additional, Boitrelle, F., additional, Vialard, F., additional, Wainer, R., additional, Izard, V., additional, Selva, J., additional, Cohen - Bacrie, P., additional, Belloc, S., additional, de mouzon, J., additional, Cohen-Bacrie, M., additional, Alvarez, S., additional, Junca, A. M., additional, Dumont, M., additional, Douard, S., additional, Prisant, N., additional, Tomita, K., additional, Hashimoto, S., additional, Akamatsu, Y., additional, Satoh, M., additional, Mori, R., additional, Inoue, T., additional, Ohnishi, Y., additional, Ito, K., additional, Nakaoka, Y., additional, Morimoto, Y., additional, Smith, V. J. H., additional, Ahuja, K. K., additional, Atig, F., additional, Raffa, M., additional, Sfar, M. T., additional, Saad, A., additional, Ajina, M., additional, Braga, D. P. A. F., additional, Halpern, G., additional, Figueira, R. C. S., additional, Setti, A. S., additional, Iaconelli Jr., A., additional, Borges Jr., E., additional, Medeiros, G. S., additional, Pasqualotto, E. B., additional, Pasqualotto, F. F., additional, Nadalini, M., additional, Tarozzi, N., additional, Di Santo, M., additional, Borini, A., additional, Lopez-Fernandez, C., additional, Arroyo, F., additional, Caballero, P., additional, Nunez-Calonge, R., additional, Fernandez, J. L., additional, Gosalvez, J., additional, Gosalbez, A., additional, Cortes, S., additional, Zikopoulos, K., additional, Lazaros, L., additional, Vartholomatos, G., additional, Kaponis, A., additional, Makrydimas, G., additional, Plachouras, N., additional, Sofikitis, N., additional, Kalantaridou, S., additional, Hatzi, E., additional, Georgiou, I., additional, de Mouzon, J., additional, Amar, E., additional, Cohen-Bacrie, P., additional, Vuillaume, M. L., additional, Brugnon, F., additional, Artonne, C., additional, Janny, L., additional, Pons-Rejraji, H., additional, Fedder, J., additional, Bosco, L., additional, Ruvolo, G., additional, Bruccoleri, A. M., additional, Manno, M., additional, Roccheri, M. C., additional, Cittadini, E., additional, Bochev, I., additional, Gavrilov, P., additional, Kyurkchiev, S., additional, Shterev, A., additional, Carlomagno, G., additional, Colone, M., additional, Condorelli, R. A., additional, Stringaro, A., additional, Calogero, A. E., additional, Zakova, J., additional, Kralikova, M., additional, Crha, I., additional, Ventruba, P., additional, Melounova, J., additional, Matejovicova, M., additional, Vodova, M., additional, Lousova, E., additional, Sanchez Toledo, M., additional, Alvarez LLeo, C., additional, Garcia Garrido, C., additional, Resta Serra, M., additional, Belmonte Andujar, L. 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Published
2011
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22. ATM haplotypes and cellular response to DNA damage: association with breast cancer risk and clinical radiosensitivity.

Author

Angele, S., Romestaing, P., Moullan, N., Vuillaume, M., Chapot, B., Friesen, M., Jongmans, W., Cox, D.G., Pisani, P., Gerard, J.P., Hall, J., Angele, S., Romestaing, P., Moullan, N., Vuillaume, M., Chapot, B., Friesen, M., Jongmans, W., Cox, D.G., Pisani, P., Gerard, J.P., and Hall, J.

Abstract

Item does not contain fulltext, The ATM gene, mutated in the cancer-prone and radiation-sensitive syndrome ataxia-telangiectasia (AT), could predispose to breast cancer (BC) development and adverse radiotherapy responses. Sixteen ATM variants were genotyped in 254 BC cases, 70 of whom were adverse radiotherapy responders (RS-BC), and 312 control subjects and the ATM haplotypes were constructed. Constitutive ATM protein, cell survival, and the p53 response after exposure to ionizing radiation were compared in lymphoblastoid cell lines (LCLs) established from the BC cases, AT, and normal individuals. The tightly linked intronic ATM polymorphisms IVS22-77 T>C and IVS48 + 238 C>G, in the homozygote state were associated with increased BC risk [IVS22-77 CC versus TT odds ratio (OR), 1.67; 95% confidence interval (CI), 1.00-2.81], and in the heterozygote state with clinical radioprotection (IVS22-77 CT versus TT OR, 0.45; 95% CI, 0.24-0.85). Homozygote carriers of the G5557A variant were over-represented in RS-BC cases compared with non-RS-BC cases (OR, 6.76; 95% CI, 1.19-38.43). These three single nucleotide polymorphisms were associated with the three major ATM haplotypes present in >80% of the study population. BC LCLs treated with ionizing radiation exhibited an intermediate cell survival and p53 response between that of normal and AT LCLs, with the response in the RS-BC LCLs being more compromised than in the non-RS-BC LCLs. Our study suggests a general pattern of increased BC risk associated with carrying any one of the ATM variants studied, with a significant association being observed in individuals carrying variants on both ATM alleles (OR, 1.75; 95% CI, 1.09-2.81) and that ATM variants may impact on radiation sensitivity.

Published
2003

23. Rearrangement of CCND1 (BCL1/PRAD1) 3' untranslated region in mantle-cell lymphomas and t(11q13)-associated leukemias

Author

Rimokh R, Berger F, Bastard C, Klein B, French M, Archimbaud E, Jp, Rouault, Santa Lucia B, Laurent Duret, Vuillaume M, 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), 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)-Université Claude Bernard Lyon 1 (UCBL), and 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)

Subjects
Gene Rearrangement, Oncogene Proteins, [SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT], Leukemia, Base Sequence, Chromosomes, Human, Pair 11, Lymphoma, Non-Hodgkin, Molecular Sequence Data, Translocation, Genetic, Cyclins, Proto-Oncogene Proteins, Proto-Oncogenes, Humans, Cyclin D1, Amino Acid Sequence, RNA, Messenger
Abstract

Rearrangement and overexpression of CCND1 (BCL1/PRAD1), a member of the cyclin G1 gene family, are consistent features of t(11q13)-bearing B-lymphoid tumors (particularly mantle-cell lymphoma [MCL]). Its deregulation is thought to perturb the G1-S transition of the cell cycle and thereby to contribute to tumor development. As suggested by previously published studies, rearrangement of the 3' untranslated region (3' UTR) of CCND1 may contribute to its activation in some lymphoid tumors. To define further the prevalence of such rearrangements, we report here the result of the molecular study of 34 MCL and six t(11q13)-associated leukemias using a set of probes specific to the different parts of the CCND1 transcript. We also sequenced the entire cDNA of the overexpressed CCND1 transcripts in a t(11q13)-associated leukemia. DNA from four of these 40 patients showed rearrangement of the 3' UTR of CCND1 coexisting with major translocation cluster (MTC) rearrangement. Southern blot and sequence analyses showed that, as a result of these rearrangements, the 3' AU-rich region containing sequences involved in mRNA stability and in translational control is eliminated. Moreover, the finding that the CCND1 mRNA half-life was greater than 3 hours (normal tissues, 0.5 hours) in three t(11q13)-associated cell lines stresses the importance of posttranscriptional derangement in the activation of CCND1. Finally, we did not observe any mutation in the coding frame of the CCND1 cDNA analyzed.

Published
1994

41. The p53-mediated DNA damage response to ionizing radiation in fibroblasts from ataxia-without-telangiectasia patients.

Author

Jongmans, W., Vuillaume, M., Kleijer, W. J., Lakin, N. D., and Hall, J.

Subjects
*P53 antioncogene, *IONIZING radiation, *ATAXIA telangiectasia
Abstract

Purpose: To assess the functionality of the p53-mediated pathway, activated by the ataxia-telangiectasia gene product (ATM) in response to ionizing radiation, in cells derived from four ataxiawithout-telangiectasia patients. These patients exhibit cerebellar ataxia and cellular abnormalities that are compatible with the diagnosis of ataxia-telangiectasia (AT), but the telangiectasias normally seen in AT patients are absent. Materials and method: Protein and RNA extracts were prepared from primary fibroblast cultures non- or exposed to 5Gy of ionizing radiation in order to monitor the modulation in p53 and ATM protein levels by immunologic techniques and WAF1/Cip1 (p21) mRNA by Northern blotting. Results: A sub-optimal response in terms of increased levels of p53 and the transcriptional activation of WAF1/Cip1 (p21) was seen in the ataxia-without-telangiectasia fibroblast cultures examined over a 4h period post-irradiation when compared with normal fibroblast cultures. The ATM protein was expressed at much reduced levels in the ataxia-without-telangiectasia and the classical AT fibroblast cultures examined when compared with normal fibroblast cultures. Conclusions: Despite the milder clinical phenotypes observed in these ataxia-without-telangiectasia patients and the presence of low levels of ATM protein in the fibroblast cultures, their response to ionizing radiation quantitatively resembles that reported in fibroblast cultures established from classical AT patients. [ABSTRACT FROM AUTHOR]

Published
1998
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42. Activation of the NADPH oxidase in human fibroblasts by mechanical intrusion of a single cell with an ultramicroelectrode.

Author

Arbault, S, Pantano, P, Sojic, N, Amatore, C, Best-Belpomme, M, Sarasin, A, and Vuillaume, M

Abstract

We present here a real-time and single cell study of an oxidative stress mechanism in human fibroblasts. Hydrogen peroxide released by a single normal or SV40-transformed human fibroblast was detected at the surface of an ultramicroelectrode while puncturing the cell membrane with the ultramicroelectrode tip itself or with a micropipette. This mechanical intrusion induced the emission of large quantities (10(-15)-10(-14) mol) of H2O2 by the cell with a very short time delay (<0.5 s). We show that this H2O2 production was an active neo-production by fibroblasts when the membrane was stressed by the cellular puncture and is a model which could mimic similar effects as particle (virus, bacteria, etc.) intrusion into the cell. Cell incubations in the presence of some inhibitors of the different NADPH oxidase enzymes, using ultramicroelectrode measurements of the short time effects (<20 min) let us believe that an NADPH oxidase-like enzyme may be implicated in this induced-H2O2 generation. Phenylarsine oxide (PAO), a specific NADPH oxidase inhibitor, at concentrations between 0.5-50 microM seemed to quickly kill the transformed cells preferentially to the normal cells, pointing out for the future a possible anti-cancerous chemotherapic use. [ABSTRACT FROM PUBLISHER]

Published
1997
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43. Epstein-Barr Virus Associated Lymphoproliferative Diseases (B Cell Lymphoma) After Transplantation.

Author

Garnier, J. L., Berger, F., Betuel, H., Vuillaume, M., Chapuis-Cellier, C., Blanc, N., Faure, J. L., Dubernard, J. M., Lenoir, G., and Touraine, J. L.

Abstract

We report 12 cases of lymphomas which occurred among 1670 patients with kidney or combined renal and pancreatic transplantation. Group 1 comprised nine patients presenting with the diffuse form of the disease where immunoblasts or mature plasma cells massively infiltrated all organs. The first symptom was a viral syndrome, associated with a restriction of heterogeneity of immunoglobulins; oligoclonal to monoclonal peaks of immunoglobulins appeared about 50 days after transplantation. All patients received antilymphocyte globulins (ALG), and seven were treated with cyclosporin. EBV infection could be demonstrated in almost all patients; three EBV lymphoblastoïd cell lines were established, their HLA phenotype being the same as the recipient of the graft. All patients finally died with renal and hepatic failure. Group 2 comprises three patients who presented solid B cell tumours of tonsils, lungs, and spleen at onset, extending to liver, kidney graft, lymph nodes, and brain. All received cyclosporin; two patients were treated with ALG, and one with OKT3. Immunoglobulins were polyclonal, oligoclonal, or decreased. Cell surface immunoglobulins were monoclonal on two tumours. EBV-DNA was positive within two tumours. Two patients presented EBV and CMV primary infection. CD4+T lymphocytes subsets were diminished at onset, and increased after cessation of immunosuppressive therapy. One patient died because of brain involvement; the two others are alive, one with perfect graft function. Therapy consisted of stopping immunosuppressive treatment, Acyclovir, and in two patients of group 2, monoclonal antibodies to pan-B and EBV receptor antigens. [ABSTRACT FROM PUBLISHER]

Published
1989

44. Construction dirigée chez Dolichovespula media.

Author

Vuillaume, M. and Naulleau, G.

Abstract

Copyright of Insectes Sociaux is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
1960
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47. Elevated NAD(P) Glycohydrolase Activity: A Possible Enzymatic Marker for Malignancy in Burkitt's Lymphoma Cells

Author

Skala, H., Lenoir, G.M., Pichard, A.L., Vuillaume, M., and Dreyfus, J.C.

Abstract

A comparative analysis of enzymatic activities has been performed on 47 human continuous lymphoid lines: 22 tumors derived from Burkitt's lymphoma lines, 6 other lymphomatous long-term cultures, and 19 nonmalignant EBV-transformed lymphoblastoid cell lines. On the 5 activities determined on the cell extracts. 4 showed no significant differences between the various lines. They included adenosine diphosphoribose incorporation, glucose-6-phosphate dehydrogenase, cyclic-AMP phosphodiesterase, and glutathione reductase. However, striking differences of activity were found for the enzyme, NAD(P) glycohydrolase (EC 3.2.2.6). Activity levels were, as a mean, four times higher in Burkitt's lymphoma-derived cell lines than in nonmalignant control lines, and the difference was highly significant (p< 0.02). All Burkitt cell lines containing translocations of chromosome 8 with either chromosomes 2, 14 or 22 showed an increased activity. The specificity and significance of this possible enzymatic marker of Burkitt's lymphoma cells is discussed.

Published
1982
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49. Nijmegen breakage syndrome cells fail to induce the p53-mediated DNA damage response following exposure to ionizing radiation

Author

Jongmans, W, Vuillaume, M, Chrzanowska, K, Smeets, D, Sperling, K, and Hall, J

Abstract

The functionality of the p53-mediated pathway, activated in response to DNA damage, has been assessed in primary fibroblast cell cultures and Epstein-Barr virus-transformed lymphoblastoid cell lines derived from Nijmegen breakage syndrome (NBS) patients. This autosomal recessive disease is characterized by microcephaly, growth and mental retardation, chromosomal instability, radiosensitivity, and high cancer incidence. The recent mapping of the NBS gene to chromosome 8q21 demonstrates that NBS is genetically distinct from ataxia telangiectasia (AT). Changes in p53 protein levels were significantly reduced and delayed in all the NBS fibroblast cell cultures and lymphoblastoid cell lines examined compared to normal cultures over a 4-h period postirradiation (5 Gy). The transcriptional activation of p21(WAF1/CIP1) mRNA was also lower in 12 NBS fibroblast cultures examined. In agreement with an abrogated p53 function, NBS cells exposed to ionizing radiation show an abnormal cell cycle arrest at G1-S and a prolonged accumulation of cells in the G2 phase. In contrast, exposure to the alkylating agent methyl methanesulfonate results in similar increases of p53 and p21(WAF1/CIP1) mRNA in both cell types. The ATM gene transcript was found to be expressed at similar levels in NBS and normal cells, whereas it was strongly reduced in the AT homozygote cells examined. These results suggest that the ATM gene product cannot substitute for that of the NBS gene in the signaling of cellular damage produced by ionizing radiation and that both are involved in the activation of p53. The suboptimal p53-mediated response could contribute to the high cancer risk and radiosensitivity seen in NBS patients.

Published
1997
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50. Epstein-Barr virus (EBV) induces expression of B-cell activation markers on in vitro infection of EBV-negative B-lymphoma cells.

Author

Calender, A, Billaud, M, Aubry, J P, Banchereau, J, Vuillaume, M, and Lenoir, G M

Abstract

A set of B-cell activation markers, including the EBV/C3d receptor [complement receptor type 2 (CR2) (CD21)], the 45-kDa lymphoblastoid cell-associated (Blast-2) antigen (CD23), and the B-cell restricted activation (Bac-1) antigen (which was recently identified as a potential B-cell growth factor receptor) can be turned on by infecting lymphoma cells that are genome negative for Epstein-Barr virus (EBV) with the B95-8 immortalizing strain of the virus. The nonimmortalizing EBV variant, strain P3HR-1, which possesses a deletion within the BamHI WYH region of the genome containing the coding sequence for the EBV-determined nuclear antigen 2, does not induce expression of these markers. Other lymphoblastoid cell-associated antigen markers can be activated by infection with either immortalizing or nonimmortalizing viruses. These results suggest that the immortalizing potential of EBV is correlated with its ability to induce expression of B-cell activation markers, which are suspected to play a major role in the physiological pathway leading to lymphoid cell proliferation. The viral genomic region deleted in the nonimmortalizing strain of EBV seems to be required for activation of some of these markers. Human lymphoma cell lines, such as those used in this study, can thus help identify the specific EBV genes involved in lymphoid B-cell proliferation and the mechanism of action of these genes.

Published
1987
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