38 results on '"Recio MJ"'
Search Results
2. Rapid Radiation of Canaries (Genus Serinus).
- Author
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Arnaiz-Villena, A, Alvarez-Tejado, M, Ruiz-del-Valle, V, Garcia-de-la-Torre, C, Varela, P, Recio, MJ, Ferre, S, and Martinez-Laso, J
- Published
- 1999
- Full Text
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3. Effectiveness of Modified Vaccinia Ankara-Bavaria Nordic Vaccination in a Population at High Risk of Mpox: A Spanish Cohort Study.
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Fontán-Vela M, Hernando V, Olmedo C, Coma E, Martínez M, Moreno-Perez D, Lorusso N, Vázquez Torres M, Barbas Del Buey JF, Roig-Sena J, Pastor E, Galmés Truyols A, Artigues Serra F, Sancho Martínez RM, Latasa Zamalloa P, Pérez Martínez O, Vázquez Estepa A, García Rojas AJ, Barreno Estévez AI, Sánchez-Migallón Naranjo A, Pérez Martín JJ, Peces Jiménez P, Morales Romero R, Castilla J, García Cenoz M, Huerta Huerta M, Boone ALD, Macías Ortiz MJ, Álvarez Río V, Rodríguez Recio MJ, Merino Díaz M, Berradre Sáenz B, Villegas-Moreno MT, Limia A, Diaz A, and Monge S
- Subjects
- Humans, Adolescent, Adult, Cohort Studies, Retrospective Studies, Vaccinia virus, Vaccination, Monkeypox virus, Vaccinia prevention & control, Mpox (monkeypox), Vaccines, HIV Infections epidemiology, HIV Infections prevention & control
- Abstract
Background: With more than 7500 cases reported since April 2022, Spain has experienced the highest incidence of mpox in Europe. From 12 July onward, the modified vaccinia Ankara-Bavaria Nordic (MVA-BN) smallpox vaccine was offered as pre-exposure prophylaxis for those receiving pre-exposure prophylaxis for human immunodeficiency virus (HIV-PrEP). Our aim was to assess the effectiveness of 1 dose of MVA-BN vaccine as pre-exposure prophylaxis against mpox virus (MPXV) infection in persons on HIV-PrEP., Methods: National retrospective cohort study between 12 July and 12 December 2022. Individuals aged ≥18 years receiving HIV-PrEP as of 12 July with no previous MPXV infection or vaccination were eligible. Each day, we matched individuals receiving a first dose of vaccine and unvaccinated controls of the same age and region. We used a Kaplan-Meier estimator, calculated risk ratios (RR) and vaccine effectiveness (VE = [1 - RR]x100)., Results: We included 5660 matched pairs, with a median follow-up of 62 days (interquartile range, 24-97). Mpox cumulative incidence was 5.6 per 1000 (25 cases) in unvaccinated and 3.5 per 1000 (18 cases) in vaccinated. No effect was found during days 0-6 post-vaccination (VE, -38.3; 95% confidence interval [CI], -332.7 to 46.4), but VE was 65% at ≥7 days (95% CI, 22.9 to 88.0) and 79% at ≥14 days (95% CI, 33.3 to 100.0) post-vaccination., Conclusions: One dose of MVA-BN vaccine offered protection against mpox in most-at-risk population shortly after the vaccination. Further studies need to assess the VE of a second dose and the duration of protection over time., Competing Interests: Potential conflicts of interest. A. G. T. reports financial support for expert testimony from Moderna and GSK and for attending meetings and/or travel from Pfizer and MSD. All other authors report no potential conflicts. All authors have submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest. Conflicts that the editors consider relevant to the content of the manuscript have been disclosed., (© The Author(s) 2023. Published by Oxford University Press on behalf of Infectious Diseases Society of America.)
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- 2024
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4. Inherited human ezrin deficiency impairs adaptive immunity.
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García-Solís B, Van Den Rym A, Martinez-Martínez L, Franco T, Pérez-Caraballo JJ, Markle J, Cubillos-Zapata C, Marín AV, Recio MJ, Regueiro JR, Navarro-Zapata A, Mestre-Durán C, Ferreras C, Martín Cotázar C, Mena R, de la Calle-Fabregat C, López-Lera A, Fernández Arquero M, Pérez-Martínez A, López-Collazo E, Sánchez-Ramón S, Casanova JL, Martínez-Barricarte R, de la Calle-Martín O, and Pérez de Diego R
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- Humans, Cell Membrane metabolism, Immunity, Humoral, CD8-Positive T-Lymphocytes, Cytoskeleton metabolism
- Abstract
Background: Inborn errors of immunity (IEI) are a group of monogenic diseases that confer susceptibility to infection, autoimmunity, and cancer. Despite the life-threatening consequences of some IEI, their genetic cause remains unknown in many patients., Objective: We investigated a patient with an IEI of unknown genetic etiology., Methods: Whole-exome sequencing identified a homozygous missense mutation of the gene encoding ezrin (EZR), substituting a threonine for an alanine at position 129., Results: Ezrin is one of the subunits of the ezrin, radixin, and moesin (ERM) complex. The ERM complex links the plasma membrane to the cytoskeleton and is crucial for the assembly of an efficient immune response. The A129T mutation abolishes basal phosphorylation and decreases calcium signaling, leading to complete loss of function. Consistent with the pleiotropic function of ezrin in myriad immune cells, multidimensional immunophenotyping by mass and flow cytometry revealed that in addition to hypogammaglobulinemia, the patient had low frequencies of switched memory B cells, CD4
+ and CD8+ T cells, MAIT, γδ T cells, andcentral naive CD4+ cells., Conclusions: Autosomal-recessive human ezrin deficiency is a newly recognized genetic cause of B-cell deficiency affecting cellular and humoral immunity., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)- Published
- 2023
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5. Effectiveness of a Meningococcal Group B Vaccine (4CMenB) in Children.
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Castilla J, García Cenoz M, Abad R, Sánchez-Cambronero L, Lorusso N, Izquierdo C, Cañellas Llabrés S, Roig J, Malvar A, González Carril F, Boone ALD, Pérez Martín J, Rodríguez Recio MJ, Galmés A, Caballero A, García Rojas A, Juanas F, Nieto M, Viloria Raymundo LJ, Martínez Ochoa E, Rivas AI, Castrillejo D, Moreno Pérez D, Martínez A, Borràs E, Sánchez Gómez A, Pastor E, Nartallo V, Arteagoitia JM, Álvarez-Fernández B, García Pina R, Fernández Arribas S, Vanrell J, García Hernández S, Mendoza RM, Méndez M, López-Tercero MM, Fernández-Rodríguez Á, Blanco Á, Carrillo de Albornoz FJ, Ruiz Olivares J, Ruiz-Montero R, Limia A, Navarro-Alonso JA, Vázquez JA, and Barricarte A
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- Child, Humans, Infant, Case-Control Studies, Neisseria meningitidis, Spain, Meningococcal Infections microbiology, Meningococcal Infections prevention & control, Meningococcal Vaccines therapeutic use, Neisseria meningitidis, Serogroup B
- Abstract
Background: In September 2015, the four-component, protein-based meningococcal serogroup B vaccine (4CMenB; Bexsero) became available for private purchase in Spain., Methods: We conducted a nationwide matched case-control study to assess the effectiveness of 4CMenB in preventing invasive meningococcal disease in children. The study included all laboratory-confirmed cases of invasive meningococcal disease in children younger than 60 months of age between October 5, 2015, and October 6, 2019, in Spain. Each case patient was matched with four controls according to date of birth and province. 4CMenB vaccination status of the case patients and controls was compared with the use of multivariate conditional logistic regression., Results: We compared 306 case patients (243 [79.4%] with serogroup B disease) with 1224 controls. A total of 35 case patients (11.4%) and 298 controls (24.3%) had received at least one dose of 4CMenB. The effectiveness of complete vaccination with 4CMenB (defined as receipt of at least 2 doses, administered in accordance with the manufacturer's recommendations) was 76% (95% confidence interval [CI], 57 to 87) against invasive meningococcal disease caused by any serogroup, and partial vaccination was 54% (95% CI, 18 to 74) effective. Complete vaccination resulted in an effectiveness of 71% (95% CI, 45 to 85) against meningococcal serogroup B disease. Vaccine effectiveness with at least one dose of 4CMenB was 64% (95% CI, 41 to 78) against serogroup B disease and 82% (95% CI, 21 to 96) against non-serogroup B disease. With the use of the genetic Meningococcal Antigen Typing System, serogroup B strains that were expected to be covered by 4CMenB were detected in 44 case patients, none of whom had been vaccinated., Conclusions: Complete vaccination with 4CMenB was found to be effective in preventing invasive disease by serogroup B and non-serogroup B meningococci in children younger than 5 years of age., (Copyright © 2023 Massachusetts Medical Society.)
- Published
- 2023
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6. Pro-apoptotic properties and mitochondrial functionality in platelet-like-particles generated from low Aspirin-incubated Meg-01 cells.
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Freixer G, Zekri-Nechar K, Zamorano-León JJ, Hugo-Martínez C, Butta NV, Monzón E, Recio MJ, Giner M, and López-Farré A
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- Aspirin pharmacology, Humans, Apoptosis drug effects, Aspirin therapeutic use, Blood Platelets drug effects, Membrane Potential, Mitochondrial immunology
- Abstract
Long-term therapy with low Aspirin (ASA) dose is basis to prevent thrombotic acute events. However, the anti-platelet mechanisms of ASA remain not completely known. The aim was to analyze if in vitro exposure of human megakaryocytes to low ASA concentration may alter the apoptotic features of the newly formed platelets. Cultured Meg-01 cells, a human megakaryoblastic cell line, were stimulated to form platelets with 10 nmol/L phorbol 12-myristate-13-acetate (PMA) in the presence and absence of ASA (0.33 mmol/L). Results revealed that platelet-like particles (PLPs) derived from ASA-exposed Meg-01 cells, showed higher content of pro-apoptotic proteins Bax and Bak than PLPs from non-ASA incubated Meg-01 cells. It was accompanied of reduced cytochrome C oxidase activity and higher mitochondrial content of PTEN-induced putative kinase-1 in PLPs from ASA-incubated Meg-01 cells. However, only after calcium ionophore A23187 stimulation, caspase-3 activity, the cytosolic cytochrome C content, and reduction of mitochondrial membrane potential were higher in PLPs from ASA-incubated megakaryocytes than in those from Meg-01 without ASA. Nitric oxide synthase 3 content was higher in PLPs from ASA-exposed Meg-01 cells than in PLPs from non-ASA incubated Meg-01 cells. The L-arginine antagonist, NG-Nitro-L-arginine Methyl Ester, reduced caspase-3 activity in A23187-stimulated PLPs generated from ASA-incubated Meg-01 cells. As conclusions exposure of megakaryocyte to ASA promotes that the newly generated PLPs have, under stimulating condition, higher sensitivity to go into apoptosis than those PLPs generated from Meg-01 cells without ASA. It could be associated with differences in mitochondrial functionality and NO formation.
- Published
- 2021
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7. Clinical and Immunological Features of Human BCL10 Deficiency.
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Garcia-Solis B, Van Den Rym A, Pérez-Caraballo JJ, Al-Ayoubi A, Alazami AM, Lorenzo L, Cubillos-Zapata C, López-Collazo E, Pérez-Martínez A, Allende LM, Markle J, Fernández-Arquero M, Sánchez-Ramón S, Recio MJ, Casanova JL, Mohammed R, Martinez-Barricarte R, and Pérez de Diego R
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- B-Cell CLL-Lymphoma 10 Protein genetics, Child, Codon, Nonsense, DNA Mutational Analysis, Female, Hematopoietic Stem Cell Transplantation, Humans, Lymphocytes metabolism, Primary Immunodeficiency Diseases genetics, Primary Immunodeficiency Diseases immunology, Primary Immunodeficiency Diseases therapy, B-Cell CLL-Lymphoma 10 Protein deficiency, Lymphocytes immunology, Primary Immunodeficiency Diseases diagnosis
- Abstract
The CARD-BCL10-MALT1 (CBM) complex is critical for the proper assembly of human immune responses. The clinical and immunological consequences of deficiencies in some of its components such as CARD9, CARD11, and MALT1 have been elucidated in detail. However, the scarcity of BCL10 deficient patients has prevented gaining detailed knowledge about this genetic disease. Only two patients with BCL10 deficiency have been reported to date. Here we provide an in-depth description of an additional patient with autosomal recessive complete BCL10 deficiency caused by a nonsense mutation that leads to a loss of expression (K63X). Using mass cytometry coupled with unsupervised clustering and machine learning computational methods, we obtained a thorough characterization of the consequences of BCL10 deficiency in different populations of leukocytes. We showed that in addition to the near absence of memory B and T cells previously reported, this patient displays a reduction in NK, γδT, Tregs, and T
FH cells. The patient had recurrent respiratory infections since early childhood, and showed a family history of lethal severe infectious diseases. Fortunately, hematopoietic stem-cell transplantation (HSCT) cured her. Overall, this report highlights the importance of early genetic diagnosis for the management of BCL10 deficient patients and HSCT as the recommended treatment to cure this disease., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Garcia-Solis, Van Den Rym, Pérez-Caraballo, Al–Ayoubi, Alazami, Lorenzo, Cubillos-Zapata, López-Collazo, Pérez-Martínez, Allende, Markle, Fernández-Arquero, Sánchez-Ramón, Recio, Casanova, Mohammed, Martinez-Barricarte and Pérez de Diego.)- Published
- 2021
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8. DNA damage response and breast cancer development: Possible therapeutic applications of ATR, ATM, PARP, BRCA1 inhibition.
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Mirza-Aghazadeh-Attari M, Recio MJ, Darband SG, Kaviani M, Safa A, Mihanfar A, Sadighparvar S, Karimian A, Alemi F, Majidinia M, and Yousefi B
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- Antineoplastic Agents pharmacology, Ataxia Telangiectasia Mutated Proteins antagonists & inhibitors, Autophagy, BRCA1 Protein antagonists & inhibitors, Breast Neoplasms genetics, Breast Neoplasms metabolism, Breast Neoplasms physiopathology, DNA metabolism, Female, Humans, Poly(ADP-ribose) Polymerase Inhibitors pharmacology, Poly(ADP-ribose) Polymerase Inhibitors therapeutic use, Poly(ADP-ribose) Polymerases drug effects, Protein Kinase Inhibitors pharmacology, Protein Kinase Inhibitors therapeutic use, Antineoplastic Agents therapeutic use, Breast Neoplasms drug therapy, DNA Damage, DNA Repair, Signal Transduction
- Abstract
Breast cancer is the most common and significant cancers in females regarding the loss of life quality. Similar to other cancers, one of the etiologic factors in breast cancer is DNA damage. A plethora of molecules are responsible for sensing DNA damage and mediating actions which lead to DNA repair, senescence, cell cycle arrest and if damage is unbearable to apoptosis. In each of these, aberrations leading to unrepaired damage was resulted in uncontrolled proliferation and cancer. Another cellular function is autophagy defined as a process eliminating of unnecessary proteins in stress cases involved in pathogenesis of cancer. Knowing their role in cancer, scholars have tried to develop strategies in order to target DDR and autophagy. Further, the interactions of DDR and autophagy plus their regulatory role on each other have been focused simultaneously. The present review study has aimed to illustrate the importance of DDR and autophagy in breast cancer according to the related studies and uncover the relation between DDR and autophagy and its significance in breast cancer therapy., (Copyright © 2020 Elsevier B.V. All rights reserved.)
- Published
- 2021
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9. Variable immunodeficiency study: Evaluation of two European cohorts within a variety of clinical phenotypes.
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Guevara-Hoyer K, Vasconcelos J, Marques L, Fernandes AA, Ochoa-Grullón J, Marinho A, Sequeira T, Gil C, Rodríguez de la Peña A, Serrano García I, Recio MJ, Fernández-Arquero M, Pérez de Diego R, Ramos JT, Neves E, and Sánchez-Ramón S
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- Adolescent, Adult, Aged, Algorithms, Child, Child, Preschool, Cohort Studies, Early Diagnosis, Female, Humans, Lymphopenia, Male, Middle Aged, Phenotype, Portugal, Precision Medicine, Prognosis, Retrospective Studies, Spain, Young Adult, Biomarkers metabolism, Immunologic Deficiency Syndromes diagnosis
- Abstract
Introduction: Given the wide heterogeneity of common variable immunodeficiency (CVID), several groups have proposed clinical and immunological classifications to better define follow-up and prognostic algorithms. The present study aims to validate recent clinical and laboratory algorithms, based on different combinations of CVID biomarkers, to provide more personalized treatment and follow-up strategies., Methods: We analysed clinical and immunological features of 80 patients with suspected or diagnosed CVID, in two reference centres of Portugal and Spain. Clinical manifestations were categorized into clinical phenotyping proposed by Chapel et al. [1] that included cytopenia; polyclonal lymphocytic infiltration; unexplained enteropathy; and no disease-related complications., Results: 76% of patients in our cohort entered one of the four categories of clinical phenotyping, without overlap (cytopenia; polyclonal lymphocytic infiltration; unexplained enteropathy; and no disease-related complications). The most prominent phenotype was "cytopenia" (40%) followed by "polyclonal lymphocytic infiltration" (19%). The remaining 24% patients of our cohort had overlap of 2 clinical phenotypes (cytopenia and unexplained enteropathy mainly). A delay of CVID diagnosis in more than 6 years presented 3.7-fold higher risk of developing lymphoproliferation and/or malignancy (p < 0.05), and was associated with increased CD8
+ CD45RO+ T-lymphocytes (p < 0.05). An association between decreased switched-memory B cells with lymphoproliferation and malignancy was observed (p < 0.03 and p < 0.05, respectively). CD4+ T-lymphocytopenia correlated with autoimmune phenotype, with 30% prevalence (p < 0.05). HLA-DR7 expression was related to CVID onset in early life in our patients (13 vs 25 years), and DQ2.5 or DQ2.2 with unexplained enteropathy (p < 0.05)., Conclusions: The phenotypic and genetic study is crucial for an adequate clinical orientation of CVID patients. In these two independent cohorts of patients, classification based in clinical and laboratory algorithms, provides more personalized treatment and follow-up strategies., Competing Interests: Declaration of Competing Interest The authors declare no other competing financial interests., (Copyright © 2020 European Federation of Immunological Societies. Published by Elsevier B.V. All rights reserved.)- Published
- 2020
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10. Typhim vi immunization assists to discriminate primary antibody responses in hematological malignancies.
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Ochoa-Grullón J, Orte C, Rodríguez de la Peña A, Guevara-Hoyer K, Cordero Torres G, Fernández-Arquero M, Serrano-García I, Recio MJ, Pérez de Diego R, and Sánchez-Ramón S
- Abstract
Assessment of specific antibody (Ab) production to polysaccharide antigens is clinically relevant, identifying patients at risk for infection by encapsulated bacteria and thus enabling a more rigorous selection of patients that can benefit of immunoglobulin replacement therapy. Classically, the gold-standard test is the measurement of antibody production to pure polysaccharide pneumococcal (PPV) immunization. Several factors, including introduction of conjugate vaccination schedule, serotyping analysis, high baseline Ab levels, have hindered the evaluation of polysaccharide antigens. This is even more difficult in secondary immunodeficiencies (SID), where patients can show secondary responses despite lack of primary antibody responses and present with recurrent or severe infections. Assessment of specific Ab production to pure S almonella typhi Vi polysaccharide (TV) immunization has been proposed as a complementary test to PPV, given its low seroprevalence. To set the optimal cut-off value for PPV and TV response in SID, we tested different biostatistical methodologies, including ROC analysis, Youden index, Union index and Closest-topleft in a cohort of 42 SID patients and 24 healthy controls. The statistically chosen cut-offs value pre-post TV Ab ratio was ≥5, (sensitivity of 90%, specificity of 100%) and a postvaccination TV concentration of 28.5 U/mL (sensitivity of 90%, specificity of 95%), showing relevant clinical correlate., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2020 The Author(s).)
- Published
- 2020
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11. Human BCL10 Deficiency due to Homozygosity for a Rare Allele.
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Van Den Rym A, Taur P, Martinez-Barricarte R, Lorenzo L, Puel A, Gonzalez-Navarro P, Pandrowala A, Gowri V, Safa A, Toledano V, Cubillos-Zapata C, López-Collazo E, Vela M, Pérez-Martínez A, Sánchez-Ramón S, Recio MJ, Casanova JL, Desai MM, and Perez de Diego R
- Subjects
- Cells, Cultured, Chromosome Disorders, Homozygote, Humans, Immunologic Memory, Infant, Lectins, C-Type metabolism, Male, Respiratory Tract Infections, Toll-Like Receptors metabolism, B-Cell CLL-Lymphoma 10 Protein genetics, B-Lymphocytes immunology, Immunologic Deficiency Syndromes genetics, Mutation genetics, T-Lymphocytes immunology
- Abstract
In 2014, a child with broad combined immunodeficiency (CID) who was homozygous for a private BCL10 allele was reported to have complete inherited human BCL10 deficiency. In the present study, we report a new BCL10 mutation in another child with CID who was homozygous for a BCL10 variant (R88X), previously reported as a rare allele in heterozygosis (minor allele frequency, 0.000003986). The mutant allele was a loss-of-expression and loss-of-function allele. As with the previously reported patient, this patient had complete BCL10 deficiency. The clinical phenotype shared features, such as respiratory infections, but differed from that of the previous patient that he did not develop significant gastroenteritis episodes or chronic colitis. Cellular and immunological phenotypes were similar to those of the previous patient. TLR4, TLR2/6, and Dectin-1 responses were found to depend on BCL10 in fibroblasts, and final maturation of T cell and B cell maturation into memory cells was affected. Autosomal-recessive BCL10 deficiency should therefore be considered in children with CID.
- Published
- 2020
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12. Evaluation of Polysaccharide Typhim Vi Antibody Response as a predictor of Humoral Immunodeficiency in Haematological Malignancies.
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Ochoa-Grullón J, Benavente Cuesta C, Pérez López C, Peña Cortijo A, Rodríguez de la Peña A, Álvarez Carmona A, Mateo Morales M, Llano-Hernández K, Williams LJ, Rodríguez de Frías E, Guevara-Hoyer K, Cordero Torres G, Orte C, Fernández-Arquero M, Fernández-Paredes L, Serrano-García I, Recio MJ, Pérez de Diego R, Martínez R, and Sánchez-Ramón S
- Subjects
- Adult, Aged, Antibodies, Bacterial blood, Antibody Formation, Cohort Studies, Female, Hematologic Neoplasms epidemiology, Hematologic Neoplasms immunology, Humans, Immunologic Deficiency Syndromes epidemiology, Immunologic Deficiency Syndromes immunology, Male, Middle Aged, Prognosis, Retrospective Studies, Seroepidemiologic Studies, Spain epidemiology, Hematologic Neoplasms diagnosis, Immunologic Deficiency Syndromes diagnosis, Polysaccharides, Bacterial immunology, Salmonella typhi physiology, Typhoid Fever immunology, Typhoid-Paratyphoid Vaccines immunology
- Abstract
An increasing healthcare challenge in the management of haematological malignancy (HM) is secondary immunodeficiency. From January 2019, the EMA included the evaluation of specific antibody (Ab) responses to better select patients for immunoglobulin replacement therapy (IgRT). We evaluated Ab responses to pneumococcal and Salmonella typhi pure polysaccharide immunization in a cohort of 42 HM patients and 24 healthy-controls. Pre-post specific Ab concentrations were measured by ELISA at 4 weeks. Globally, significantly lower Typhim Vi (TV) seroprevalence (9%) compared to 23-valent pneumococcal polysaccharide vaccine (PPV) (76%) (p <0.001) was observed. TV non responders (88%) were higher than PPV non responders (62%) (p <0.0001) and correlated better to infectious history. By ROC analysis, pre-post 5-fold TV increase was the best cut-off to discriminate HM with recurrent infections and controls (sensitivity 91%, specificity 100%). Despite the small sample cohort, our results suggest that specific anti-S typhi Ab response is a useful complementary assay in the diagnosis and management decision of SID to HM., (Copyright © 2019 Elsevier Inc. All rights reserved.)
- Published
- 2020
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13. Double-strand break repair through homologous recombination in autosomal-recessive BCL10 deficiency.
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García-Gómez S, Chaparro R, Safa A, Van Den Rym A, Martinez-Barricarte R, Lorenzo L, Sánchez-Ramón S, Toledano V, Cubillos-Zapata C, López-Collazo E, Martín-Arranz MD, Martín-Arranz E, Vela M, Gonzalez-Navarro P, Pérez-Martínez A, Casanova JL, Recio MJ, and Pérez de Diego R
- Subjects
- B-Cell CLL-Lymphoma 10 Protein genetics, Cell Line, Fibroblasts drug effects, Fibroblasts metabolism, Homologous Recombination, Humans, Hydrogen Peroxide toxicity, Hydroxyurea toxicity, B-Cell CLL-Lymphoma 10 Protein deficiency, DNA Breaks, Double-Stranded, DNA Repair
- Published
- 2019
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14. Measurement of Typhim Vi IgG as a Diagnostic Tool to Determine Anti-polysaccharide Antibody Production Deficiency in Children.
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Guevara-Hoyer K, Gil C, Parker AR, Williams LJ, Orte C, Rodriguez de la Peña A, Ochoa-Grullón J, Rodriguez De Frias E, García IS, García-Gómez S, Recio MJ, Fernández-Arquero M, Pérez de Diego R, Ramos JT, and Sánchez-Ramón S
- Subjects
- Adolescent, Child, Child, Preschool, Female, Humans, Male, Polysaccharides, Bacterial immunology, Typhoid-Paratyphoid Vaccines immunology, Antibodies, Bacterial blood, Antibodies, Bacterial immunology, Antibody Formation drug effects, Immunoglobulin G blood, Immunoglobulin G immunology, Polysaccharides, Bacterial administration & dosage, Primary Immunodeficiency Diseases blood, Primary Immunodeficiency Diseases diagnosis, Primary Immunodeficiency Diseases immunology, Typhoid-Paratyphoid Vaccines administration & dosage, Vaccination
- Abstract
Background: The assessment of specific polysaccharide antibody production plays a pivotal role in the diagnosis of humoral primary immunodeficiencies (PID). The response to 23-valent pneumococcal vaccine (PPV) remains the gold standard for the diagnosis of polysaccharide antibodies. However, in Spain, the interpretation of pure polysaccharide 23-valent immunization is hampered by the high endemicity of pneumococcal disease and the generalization of the 13-valent adjuvant pneumococcal vaccination. Specific Typhim Vi vaccination (TV) immunoglobulin G IgG response to immunization is useful in adult PID, but there is no data regarding children. Objectives: To evaluate the clinical utility of TV IgG production as a diagnostic tool to determine anti-polysaccharide antibody production deficiency in children, when the response to PPV is unclear and isolated determination of serotypes is unfeasible. Methods: We conducted a single-institution prospective observational study on 61 children with recurrent infections. Baseline specific antibodies against PPV and TV were evaluated. In 28 children (46%), the response to the production of antibodies confirmed a clinical suspicion of humoral PID, and they were therefore immunized with 23-valent pneumococcal vaccine and Typhim Vi. Both specific antibody responses were measured by ELISA (The Binding Site Group Ltd, Birmingham, UK) using previously published cut-offs. Results: Seventy percent of the 61 children displayed baseline PPV IgG > 27 mg/L, whereas only 8% showed TV IgG > 28 U/mL ( p < 0.0001). Twenty-one of 28 children (75%) achieved a 3-fold increase in post-vaccination TV IgG levels, whereas only 3% achieved a 4-fold increase in PPV IgG post vaccination, mainly due to high baseline PPV IgG titers. When we classified children according to their response to TV as responders or non-responders and compared this with the well-known clinical warning signs of the Jeffrey Modell Foundation. The proportions of children with history of pneumonia and the need for intravenous antibiotics were significantly higher in TV IgG non-responders than in TV IgG responders ( p = 0.02 and p = 0.01, respectively). Conclusion: Response to TV can be considered an ancillary diagnostic tool to determine polysaccharide antibodies in children, particularly when isolated determination of pneumococcal serotypes is not feasible. TV provides a useful asset for clinicians in the era of conjugate PPV vaccination, with clinical relevance. Further research is warranted for validation.
- Published
- 2019
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15. Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation.
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Recio MJ, Dominguez-Pinilla N, Perrig MS, Rodriguez Vigil-Iturrate C, Salmón-Rodriguez N, Martinez Faci C, Castro-Panete MJ, Blas-Espada J, López-Nevado M, Ruiz-Garcia R, Chaparro-García R, Allende LM, and Gonzalez-Granado LI
- Subjects
- Antibodies blood, B-Lymphocytes, Child, Codon, Nonsense, DNA Breaks, Double-Stranded, DNA End-Joining Repair genetics, Fibroblasts radiation effects, Follow-Up Studies, Hematopoietic Stem Cell Transplantation, Homozygote, Humans, Infant, Intellectual Disability diagnosis, Lymphopenia diagnosis, Microcephaly diagnosis, Pedigree, Radiation Tolerance, Rare Diseases diagnosis, Rare Diseases pathology, Rare Diseases therapy, Severe Combined Immunodeficiency diagnosis, Severe Combined Immunodeficiency pathology, Severe Combined Immunodeficiency therapy, T-Lymphocytes, Treatment Outcome, DNA Repair Enzymes deficiency, DNA Repair Enzymes genetics, DNA-Binding Proteins deficiency, DNA-Binding Proteins genetics, Phenotype, Rare Diseases genetics, Severe Combined Immunodeficiency genetics
- Abstract
Cernunnos/XLF deficiency is a rare primary immunodeficiency classified within the DNA repair defects. Patients present with severe growth retardation, microcephaly, lymphopenia and increased cellular sensitivity to ionizing radiation. Here, we describe two unrelated cases with the same non-sense mutation in the NHEJ1 gene showing significant differences in clinical presentation and immunological profile but a similar DNA repair defect.
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- 2019
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16. Primary T-cell immunodeficiency with functional revertant somatic mosaicism in CD247.
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Marin AV, Jiménez-Reinoso A, Briones AC, Muñoz-Ruiz M, Aydogmus C, Pasick LJ, Couso J, Mazariegos MS, Alvarez-Prado AF, Blázquez-Moreno A, Cipe FE, Haskologlu S, Dogu F, Morín M, Moreno-Pelayo MA, García-Sánchez F, Gil-Herrera J, Fernández-Malavé E, Reyburn HT, Ramiro AR, Ikinciogullari A, Recio MJ, Regueiro JR, and Garcillán B
- Subjects
- Female, Genetic Markers, Humans, Immunologic Deficiency Syndromes diagnosis, Infant, Primary Immunodeficiency Diseases, CD3 Complex genetics, Immunologic Deficiency Syndromes genetics, Mosaicism
- Published
- 2017
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17. HLA-DMB in Amerindians: Specific linkage of DMB*01:03:01/DRB1 alleles.
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Arnaiz-Villena A, Palacio-Grüber J, Muñiz E, Rey D, Recio MJ, Campos C, Martinez-Quiles N, Martin-Villa JM, and Martinez-Laso J
- Subjects
- Evolution, Molecular, Gene Frequency, Genealogy and Heraldry, Genetic Predisposition to Disease, Genetics, Population, Histocompatibility Testing, Humans, Polymorphism, Genetic, Alleles, HLA-D Antigens genetics, HLA-DRB1 Chains genetics, Indians, Central American, Indians, North American, Indians, South American, Linkage Disequilibrium
- Abstract
Background: HLA-DMB proteins are important for intracellular microbial metabolism in order other major histocompatibility complex (MHC) molecules present peptides to lymphocytes. In addition, HLA-DMB alleles have been found linked to diseases in some ethnic groups and HLA-DMB molecules may be important to explain HLA disease association., Objective: To detect HLA-DMB alleles profile in Amerindians for the first time and compare them to other populations. This will establish the bases to study HLA-DMB linkage to disease in Amerindians., Method: A group of 168 voluntary Amerindians have been typed for HLA-DMB alleles. They have been characterized both, by genetic and genealogical bases. Cloning and automated HLA-DMB DNA (exons 2, 3 and 4) sequencing have been performed for allele assignation., Results: HLA-DMB*01:01:01 and HLA-DMB*01:03:01 show the highest frequencies. These have been compared to other World wide populations. HLA-DMB*01:03:01 is tightly associated to certain specific HLA-DRB1 alleles in Amerindians., Conclusion: The specific Amerindian HLA-DMB allele frequencies and their linkage disequilibrium with other MHC alleles may be crucial to determine HLA-DMB World wide variation, evolution and specific linkage to disease in Amerindians and other populations., (Copyright © 2016 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.)
- Published
- 2016
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18. Natural killer cell hyporesponsiveness and impaired development in a CD247-deficient patient.
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Valés-Gómez M, Esteso G, Aydogmus C, Blázquez-Moreno A, Marín AV, Briones AC, Garcillán B, García-Cuesta EM, López Cobo S, Haskologlu S, Moraru M, Cipe F, Dobbs K, Dogu F, Parolini S, Notarangelo LD, Vilches C, Recio MJ, Regueiro JR, Ikinciogullari A, and Reyburn HT
- Subjects
- Gene Expression, Genotype, Humans, CD3 Complex genetics, Killer Cells, Natural immunology, Killer Cells, Natural metabolism, Sequence Deletion
- Published
- 2016
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19. Human CD3γ, but not CD3δ, haploinsufficiency differentially impairs γδ versus αβ surface TCR expression.
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Muñoz-Ruiz M, Pérez-Flores V, Garcillán B, Guardo AC, Mazariegos MS, Takada H, Allende LM, Kilic SS, Sanal O, Roifman CM, López-Granados E, Recio MJ, Martínez-Naves E, Fernández-Malavé E, and Regueiro JR
- Subjects
- Cell Membrane metabolism, Humans, Models, Immunological, T-Lymphocytes immunology, CD3 Complex immunology, Haploinsufficiency immunology, Receptors, Antigen, T-Cell, alpha-beta immunology, Receptors, Antigen, T-Cell, gamma-delta immunology
- Abstract
Background: The T cell antigen receptors (TCR) of αβ and γδ T lymphocytes are believed to assemble in a similar fashion in humans. Firstly, αβ or γδ TCR chains incorporate a CD3δε dimer, then a CD3γε dimer and finally a ζζ homodimer, resulting in TCR complexes with the same CD3 dimer stoichiometry. Partial reduction in the expression of the highly homologous CD3γ and CD3δ proteins would thus be expected to have a similar impact in the assembly and surface expression of both TCR isotypes. To test this hypothesis, we compared the surface TCR expression of primary αβ and γδ T cells from healthy donors carrying a single null or leaky mutation in CD3G (γ+/-) or CD3D (δ+/-, δ+/leaky) with that of normal controls., Results: Although the partial reduction in the intracellular availability of CD3γ or CD3δ proteins was comparable as a consequence of the mutations, surface TCR expression measured with anti-CD3ε antibodies was significantly more decreased in γδ than in αβ T lymphocytes in CD3γ+/- individuals, whereas CD3δ+/- and CD3δ+/leaky donors showed a similar decrease of surface TCR in both T cell lineages. Therefore, surface γδ TCR expression was more dependent on available CD3γ than surface αβ TCR expression., Conclusions: The results support the existence of differential structural constraints in the two human TCR isotypes regarding the incorporation of CD3γε and CD3δε dimers, as revealed by their discordant surface expression behaviour when confronted with reduced amounts of CD3γ, but not of the homologous CD3δ chain. A modified version of the prevailing TCR assembly model is proposed to accommodate these new data.
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- 2013
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20. A leaky mutation in CD3D differentially affects αβ and γδ T cells and leads to a Tαβ-Tγδ+B+NK+ human SCID.
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Gil J, Busto EM, Garcillán B, Chean C, García-Rodríguez MC, Díaz-Alderete A, Navarro J, Reiné J, Mencía A, Gurbindo D, Beléndez C, Gordillo I, Duchniewicz M, Höhne K, García-Sánchez F, Fernández-Cruz E, López-Granados E, Schamel WW, Moreno-Pelayo MA, Recio MJ, and Regueiro JR
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- Animals, B-Lymphocytes immunology, Base Sequence, DNA Mutational Analysis, Female, Humans, Infant, Killer Cells, Natural immunology, Male, Mice, Pedigree, RNA Splice Sites genetics, Receptors, Antigen, T-Cell, alpha-beta metabolism, Receptors, Antigen, T-Cell, gamma-delta metabolism, Severe Combined Immunodeficiency etiology, CD3 Complex genetics, Mutation, Severe Combined Immunodeficiency genetics, Severe Combined Immunodeficiency immunology, T-Lymphocyte Subsets immunology
- Abstract
T cells recognize antigens via their cell surface TCR and are classified as either αβ or γδ depending on the variable chains in their TCR, α and β or γ and δ, respectively. Both αβ and γδ TCRs also contain several invariant chains, including CD3δ, which support surface TCR expression and transduce the TCR signal. Mutations in variable chains would be expected to affect a single T cell lineage, while mutations in the invariant chains would affect all T cells. Consistent with this, all CD3δ-deficient patients described to date showed a complete block in T cell development. However, CD3δ-KO mice have an αβ T cell-specific defect. Here, we report 2 unrelated cases of SCID with a selective block in αβ but not in γδ T cell development, associated with a new splicing mutation in the CD3D gene. The patients' T cells showed reduced CD3D transcripts, CD3δ proteins, surface TCR, and early TCR signaling. Their lymph nodes showed severe T cell depletion, recent thymus emigrants in peripheral blood were strongly decreased, and the scant αβ T cells were oligoclonal. T cell-dependent B cell functions were also impaired, despite the presence of normal B cell numbers. Strikingly, despite the specific loss of αβ T cells, surface TCR expression was more reduced in γδ than in αβ T cells. Analysis of individuals with this CD3D mutation thus demonstrates the contrasting CD3δ requirements for αβ versus γδ T cell development and TCR expression in humans and highlights the diagnostic and clinical relevance of studying both TCR isotypes when a T cell defect is suspected.
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- 2011
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21. Possible role of Artemis c.512C>G polymorphic variant in Omenn syndrome.
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Mancebo E, Recio MJ, Martínez-Busto E, González-Granado LI, Rojo P, Fernández-Díaz E, Ruiz-Contreras J, Paz-Artal E, and Allende LM
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- Animals, Artemisia genetics, Polymorphism, Genetic, Radiation Tolerance
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- 2011
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22. CD3γ-independent pathways in TCR-mediated signaling in mature T and iNKT lymphocytes.
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Reiné J, Busto EM, Muñoz-Ruiz M, Rossi NE, Rodríguez-Fernández JL, Martínez-Naves E, Regueiro JR, and Recio MJ
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- Adult, Animals, CD3 Complex genetics, CD3 Complex metabolism, Cell Line, Transformed, Cell Proliferation drug effects, Cells, Cultured, Female, Flow Cytometry, Galactosylceramides immunology, Galactosylceramides pharmacology, Humans, Immunoblotting, Male, Mice, Mice, Knockout, Mutation, Natural Killer T-Cells metabolism, Phosphorylation, Receptor-CD3 Complex, Antigen, T-Cell immunology, Receptor-CD3 Complex, Antigen, T-Cell metabolism, Receptors, Antigen, T-Cell metabolism, Receptors, Antigen, T-Cell, alpha-beta immunology, Receptors, Antigen, T-Cell, alpha-beta metabolism, T-Lymphocytes drug effects, T-Lymphocytes metabolism, Young Adult, CD3 Complex immunology, Natural Killer T-Cells immunology, Receptors, Antigen, T-Cell immunology, Signal Transduction immunology, T-Lymphocytes immunology
- Abstract
Antigen recognition by T-lymphocytes through the T-cell antigen receptor, TCR-CD3, is a central event in the initiation of an immune response. CD3 proteins may have redundant as well as specific contributions to the intracellular propagation of TCR-mediated signals. However, to date, the relative role that each CD3 chain plays in signaling is controversial. In order to examine the roles of CD3γ chain in TCR signaling, we analyzed proximal and distal signaling events in human CD3γ(-/-) primary and Herpesvirus saimiri (HVS)-transformed T cells. Following TCR-CD3 engagement, certain early TCR signaling pathways (ZAP-70, ERK, p38 and mTORC2 phosphorylation, and actin polymerization) were comparable with control HVS-transformed T cells. However, other signaling pathways were affected, such TCRζ phosphorylation, indicating that the CD3γ chain contributes to improve TCR signaling efficiency and survival. On the other hand, CD3γ(-/-) primary invariant NKT cells (iNKT cells) showed a normal expansion in response to alpha-galactosylceramide (α-GalCer) and TCRVβ11(bright) iNKT cells were preferentially selected in this in vitro culture system, perhaps as a consequence of selective events in the thymus. Our results collectively indicate that a TCR lacking CD3γ can propagate a number of signals through the remaining invariant chains, likely the homologous CD3δ chain, which replaces it at the mutant TCR., (Copyright © 2011 Elsevier Inc. All rights reserved.)
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- 2011
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23. Differential biological role of CD3 chains revealed by human immunodeficiencies.
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Recio MJ, Moreno-Pelayo MA, Kiliç SS, Guardo AC, Sanal O, Allende LM, Pérez-Flores V, Mencía A, Modamio-Høybjør S, Seoane E, and Regueiro JR
- Subjects
- Adult, Animals, CD3 Complex genetics, Child, Female, Humans, Infant, Leukocyte Common Antigens genetics, Leukocyte Common Antigens immunology, Lymphopenia genetics, Male, Mice, Mutation, Pedigree, Receptors, Antigen, T-Cell, alpha-beta genetics, Receptors, Antigen, T-Cell, alpha-beta immunology, Receptors, Antigen, T-Cell, gamma-delta genetics, Receptors, Antigen, T-Cell, gamma-delta immunology, Severe Combined Immunodeficiency genetics, Spain, T-Lymphocytes immunology, Thymus Gland immunology, Turkey, CD3 Complex immunology, Lymphopenia immunology, Severe Combined Immunodeficiency immunology
- Abstract
The biological role in vivo of the homologous CD3gamma and delta invariant chains within the human TCR/CD3 complex is a matter of debate, as murine models do not recapitulate human immunodeficiencies. We have characterized, in a Turkish family, two new patients with complete CD3gamma deficiency and SCID symptoms and compared them with three CD3gamma-deficient individuals belonging to two families from Turkey and Spain. All tested patients shared similar immunological features such as a partial TCR/CD3 expression defect, mild alphabeta and gammadelta T lymphocytopenia, poor in vitro proliferative responses to Ags and mitogens at diagnosis, and very low TCR rearrangement excision circles and CD45RA(+) alphabeta T cells. However, intrafamilial and interfamilial clinical variability was observed in patients carrying the same CD3G mutations. Two reached the second or third decade in healthy conditions, whereas the other three showed lethal SCID features with enteropathy early in life. In contrast, all reported human complete CD3delta (or CD3epsilon) deficiencies are in infants with life-threatening SCID and very severe alphabeta and gammadelta T lymphocytopenia. Thus, the peripheral T lymphocyte pool was comparatively well preserved in human CD3gamma deficiencies despite poor thymus output or clinical outcome. We propose a CD3delta >> CD3gamma hierarchy for the relative impact of their absence on the signaling for T cell production in humans.
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- 2007
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24. A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci.
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Riballo E, Kühne M, Rief N, Doherty A, Smith GC, Recio MJ, Reis C, Dahm K, Fricke A, Krempler A, Parker AR, Jackson SP, Gennery A, Jeggo PA, and Löbrich M
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- Animals, Ataxia Telangiectasia Mutated Proteins, Cell Cycle Proteins metabolism, Cell Line, Cells, Cultured, DNA Repair, DNA Repair Enzymes, DNA, Complementary metabolism, DNA-Binding Proteins metabolism, Dose-Response Relationship, Radiation, Endonucleases, Epistasis, Genetic, Gamma Rays, Genetic Complementation Test, Humans, Infrared Rays, Intracellular Signaling Peptides and Proteins metabolism, MRE11 Homologue Protein, Mice, Nuclear Proteins metabolism, Phenotype, Phosphoproteins metabolism, Phosphorylation, Severe Combined Immunodeficiency, Signal Transduction, Time Factors, Tumor Suppressor Proteins, Tumor Suppressor p53-Binding Protein 1, X-Rays, DNA Damage, Histones metabolism, Nuclear Proteins physiology, Protein Serine-Threonine Kinases metabolism
- Abstract
The hereditary disorder ataxia telangiectasia (A-T) is associated with striking cellular radiosensitivity that cannot be attributed to the characterized cell cycle checkpoint defects. By epistasis analysis, we show that ataxia telangiectasia mutated protein (ATM) and Artemis, the protein defective in patients with RS-SCID, function in a common double-strand break (DSB) repair pathway that also requires H2AX, 53BP1, Nbs1, Mre11, and DNA-PK. We show that radiation-induced Artemis hyperphosphorylation is ATM dependent. The DSB repair process requires Artemis nuclease activity and rejoins approximately 10% of radiation-induced DSBs. Our findings are consistent with a model in which ATM is required for Artemis-dependent processing of double-stranded ends with damaged termini. We demonstrate that Artemis is a downstream component of the ATM signaling pathway required uniquely for the DSB repair function but dispensable for ATM-dependent cell cycle checkpoint arrest. The significant radiosensitivity of Artemis-deficient cells demonstrates the importance of this component of DSB repair to survival.
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- 2004
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25. [Creutzfeldt-Jakob disease with rapidly progressive presentation].
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Morcillo-Serra C, Arboix A, and Rey-Recio MJ
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- Aged, Aged, 80 and over, Creutzfeldt-Jakob Syndrome pathology, Fatal Outcome, Female, Humans, Prions genetics, Creutzfeldt-Jakob Syndrome diagnosis, Creutzfeldt-Jakob Syndrome physiopathology
- Published
- 2004
26. [Seroprevalence of infection due to Echinococcus granulosus in the population of Castilla and León (Spain)].
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Gutiérrez MP, Ramírez I, Zarzosa Mdel P, Fernández JM, Dueñas AI, Mantecón MA, Almaraz A, Rodríguez-Recio MJ, Marcos H, Alonso P, Bratos MA, Orduña A, and Rodríguez-Torres A
- Subjects
- Adolescent, Adult, Aged, Aged, 80 and over, Animals, Echinococcosis blood, Female, Humans, Male, Middle Aged, Seroepidemiologic Studies, Spain epidemiology, Antibodies, Helminth blood, Echinococcosis epidemiology, Echinococcus immunology, Immunoglobulin G blood
- Abstract
Introduction: Human hydatidosis is a prevalent zoonotic disease in the Castilla y León region of Spain. The aim of this study is to investigate the seroprevalence of Echinococcus granulosus infection in this region., Methods: We studied 4824 serum samples from a random, representative population of healthy individuals from each province of Castilla y León, obtained over one year. An indirect enzyme-immunoassay developed in our laboratory was used to determine the presence of IgG antibodies against Echinococcus granulosus in these samples., Results: IgG antibodies against Echinococcus granulosus were detected in 3.4% (164/4824) of samples studied, with a range of 1.26% to 7.10%, depending on the province. Antibody seroprevalence increased significantly with age, but there was no significant sex-related difference (3.66% men vs. 3.14% women)., Conclusion: The seroprevalence of Echinococcus granulosus infection in Castilla y León is still high. These data contribute to hydatidosis surveillance within the control program for this disease.
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- 2003
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27. [Incidence and clinical characteristics of maculopapular exanthemas of viral aetiology].
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Vega Alonso T, Gil Costa M, Rodríguez Recio MJ, and de la Serna Higuera P
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- Adolescent, Child, Child, Preschool, Female, Humans, Incidence, Infant, Male, Skin Diseases, Viral pathology, Spain epidemiology, Exanthema epidemiology, Exanthema virology, Skin Diseases, Viral epidemiology
- Abstract
Objective: To estimate the incidence of maculo-papular viral exanthemas and to describe the epidemiological and clinical patterns., Design: Observational descriptive study with a sample design., Participants and Setting: 154 practitioners from the Castilla y León Sentinel Network with a surveilled population of 23 237 people-year under 15 years old, notified in 2002 the cases of diseases by means of a standard form with the variables and inclusion and exclusion criteria., Main Measurements: It was included the maculo-papular exanthemas associated to a presumable systemic virus disease in patients under 15 years old. It was excluded the infectious mononucleose, the chickenpox, and other non viral infections or exanthemas., Results: 368 cases were notified which represent a incidence rate of 158.37 cases per 10 000 (95% CI, 142.31-174.42). The incidence was maximum under four years old, more than 350 per 10 000, decreasing significantly in children over this age. Erythema infectiousum presented the highest rate, followed by exanthema subitum. The exanthemas caused by measles or rubella were insignificants., Conclusions: Childhood exanthematous diseases of presumable viral etiology have an important incidence in primary care, although the majorities are banal and self-limited diseases. Clinical characteristics supported the suspicion diagnosis, which was consistent with the observed epidemiological description and expected presentations of each disease. Although serological analysis could diminish the uncertainly on notification and control of diseases submited to especial programs of vaccination and eradication, they would not improve substantially the diagnosis and treatment of these patients.
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- 2003
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28. Serologic evidence of human infection by Francisella tularensis in the population of Castilla y León (Spain) prior to 1997.
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Gutiérrez MP, Bratos MA, Garrote JI, Dueñas A, Almaraz A, Alamo R, Rodríguez Marcos H, Rodríguez Recio MJ, Muñoz MF, Orduña A, and Rodríguez-Torres A
- Subjects
- Adolescent, Adult, Aged, Aged, 80 and over, Female, Humans, Male, Middle Aged, Seroepidemiologic Studies, Spain epidemiology, Antibodies, Bacterial blood, Francisella tularensis immunology, Tularemia epidemiology
- Abstract
Prior to an outbreak in Castilla y León in December 1997, tularaemia was practically non-existent in Spain. In this paper we studied the prevalence of antibodies against Francisella tularensis in a representative sample of the population (4825 people) from Castilla y León (Spain) in samples collected before this outbreak. Antibodies against F. tularensis were detected in nine (0.19%) of the 4825 sera, with antibody titres ranging from 1/20 to 1/160. Of these nine sera, one was positive in seroagglutination against Brucella. Seroagglutination against other bacteria (Yersinia enterocolitica O:9 and O:3 and Proteus OX19) was negative in all sera. Seroprevalence of antibodies in females was 0.20% and 0.17% in males; no statistically significant differences were found in prevalence in terms of sex, age or province.
- Published
- 2003
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29. [Prevalence of antibodies against Francisella tularensis in Castilla y León (Spain) before 1997].
- Author
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Gutiérrez MP, Orduña A, Dueñas A, Bratos MA, Almaraz A, Alamo R, Rodríguez Recio MJ, Rodríguez Marcos H, and Rodríguez Torres A
- Subjects
- Adolescent, Adult, Aged, Agglutination Tests, Female, Humans, Male, Reagent Kits, Diagnostic, Seroepidemiologic Studies, Spain epidemiology, Tularemia immunology, Antibodies, Bacterial blood, Francisella tularensis immunology, Tularemia epidemiology
- Abstract
Background and Objectives: The aim of this paper was determine the prevalence of antibodies against Francisella tularensis in the representative sample of people from Castilla-León (Spain) before epidemic outbreak of end 1997., Subjects and Method: We obtain 4,825 sera (between april-1996 and april-1997) of people from Castilla-León. All sera were tested by a microagglutination technique to detect antibodies against Francisella tularensis. The positive sera were tested to determine cross-reaction with Brucella, Yersinia enterocolitica and Proteus in the tube agglutination tests., Results: We detected antibodies against Francisella tularensis in 9 (0,19%) of the 4,825 sera. Only one serum from the 9 seropositive was positive in the tube agglutination against Brucella. None of the 9 sera were positive against the remaining bacterial antigen tested., Conclusions: In the people of Castilla-León before 1997 the prevalence of antibodies against Francisella tularensis was 0,19%.
- Published
- 2003
30. Description of two Mhc-C-related sequences in the New World monkey Saguinus oedipus.
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Alvarez-Tejado M, Martínez-Laso J, García-de-la-Torre C, Varela P, Recio MJ, Allende L, Gómez-Casado E, and Arnaiz-Villena A
- Subjects
- Alleles, Animals, Base Sequence, Cell Line, Evolution, Molecular, Exons, Histocompatibility Antigens, Introns, Molecular Sequence Data, Phylogeny, Sequence Alignment, Cebidae genetics, Genes, MHC Class I genetics
- Abstract
Two new Mhc class I partial exon 1, intron 1, exon 2, intron 2 and partial exon 3 DNA sequences from the New World monkey Saguinus oedipus (Saoe) are described. These two sequences show certain Mhc-C sequence-specific changes. The only difference between these two new sequences is a productive substitution at position 152 [GCG (Ala)-->GAG (Glu)]. This change occurs in a position which in Mhc classical class I molecules affects the interaction between the peptide and the T-cell receptor. A dendrogram with Mhc sequences from different loci and different species was constructed, which clearly shows that these two new sequences cluster closer to Mhc-C sequences than to others. These data suggest that the new sequences may be related to the Mhc-C locus, and they have been named Mhc-Saoe-CR*01 and -CR*02. However, they share only a few of the conserved residues (from gorilla to human) of Mhc-C sequences, which suggests that the relationships with an ancestor of the Mhc-C lineage are very distant or that these two sequences are products of convergent evolution to perform a C locus related function. Furthermore, in the fragment of DNA sequenced, there is a loss of two invariant residues conserved in antigen-presenting molecules from reptiles to humans; thus, it is unlikely that these two Mhc-C-like sequences have an antigen-presenting function, or even that they are two alleles of a pseudogene; however, the G + C percentage (86.1%) at the third base of codons approaches that of an expressed gene in Saoe. It is concluded that Mhc molecules with C-locus characteristics existed in primates 50 million years ago and that this does not support a more recent origin of Mhc-C genes.
- Published
- 1998
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31. Phylogeny and rapid northern and southern hemisphere speciation of goldfinches during the Miocene and Pliocene epochs.
- Author
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Arnaiz-Villena A, Alvarez-Tejado M, Ruíz-del-Valle V, García-de-la-Torre C, Varela P, Recio MJ, Ferre S, and Martínez-Laso J
- Subjects
- Animals, Base Sequence, Chickens, Cytochrome b Group genetics, Evolution, Molecular, Molecular Sequence Data, Sequence Homology, Nucleic Acid, Songbirds anatomy & histology, DNA, Mitochondrial genetics, Phylogeny, Songbirds classification, Songbirds genetics
- Abstract
Mitochondrial cytochrome b (cyt b) from 25 out of 31 extant goldfinches, siskins, greenfinches and redpolls (genus Carduelis) has been sequenced from living samples taken around the world, specimens have also been photographed. Phylogenetic analysis consistently gave the same groups of birds, and this grouping was generally related to geographical proximity. It has been supposed that Pleistocene glaciations played a crucial role in the origin of extant diversity and distribution of Northern Hemisphere vertebrates. Molecular comparison of most extant songbird species belonging to the genus Carduelis does not support this assertion. The fossil record of chicken and pheasant divergence time has been used to calibrate the molecular clock; cyt b DNA dendrograms suggest that speciation in Carduelinae birds occurred during the Miocene and Pliocene Epochs (9-2 million years ago) in both the Northern and Southern Hemispheres. Only about 4% average amount of nucleotide substitution per lineage is found between the most distant Carduelis species; this suggests a remarkably rapid radiation when compared with the radiation of other passerine songbird genera. In addition, a continuum of small songbird speciation may be found during the Miocene Epoch in parallel with speciation of other orders (i.e. Galliformes, chicken/pheasant). Pleistocene glaciations may have been important in subspeciation (i.e. Eastern European grey-headed goldfinches/Western European black-headed goldfinches) and also in ice-induced vicariance (isolation) (i.e. siskin in Western Europe vs. siskin in Far East Asia) around the world. European isolated Serinus citrinella (citril finch) is not a canary, but a true goldfinch. South American siskins have quickly radiated in the last 4 million years coinciding with the emergence of the Isthmus of Panama; probably, a North American siskin related to C. notata invaded a suitable and varied biotope (the South American island) for Carduelis birds. North American goldfinches may be renamed as siskins, because they have a distant genetic relationship with European goldfinches. Genus Acanthis could be dropped, and thus redpolls should be separated from twite and linnet, the latter (Europeans) probably being related to American goldfinches. Also, reproductive barriers are observed between closely related species and not between other more distant ones. Finally, a tentative classification for genus Carduelis species is suggested.
- Published
- 1998
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32. Transcription and weak expression of HLA-DRB6: a gene with anomalies in exon 1 and other regions.
- Author
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Fernandez-Soria VM, Morales P, Castro MJ, Suarez B, Recio MJ, Moreno MA, Paz-Artal E, and Arnaiz-Villena A
- Subjects
- Amino Acid Sequence, Animals, Base Sequence, DNA, Complementary, Exons, Gene Expression, HLA-DR beta-Chains, Humans, L Cells, Mice, Molecular Sequence Data, RNA Processing, Post-Transcriptional, RNA, Messenger metabolism, Transfection, HLA-DR Antigens genetics, Transcription, Genetic
- Abstract
HLA-DRB6 is one of the human major histocompatibility complex (MHC) genes present in DR1, DR2, and DR10 haplotypes (approximately 26% of individuals). It shows several anomalies in human and non-human primates, including exon 2 stop codons (non-randomly grouped between codons 74 and 94) and a promoter region, and an exon 1 coming from an inserted retrovirus. It has been shown that not only chimpanzee but also human Mhc-DRB6 lack the usual 3' untranslated (UT) polyadenylation signal, and in the present work it was found that the human DRB6 gene coming from an HLA-DR2 haplotype is effectively transcribed after transfection in mouse L cells, and that HLA-DRB6 molecules may be expressed on the cell surface. DRB6 transcription level is remarkably lower in human than in chimpanzee. Moreover, their exons 1 (both taken from the 3'LTR region of a mammary tumor retrovirus) are also different; this shows that these viral insertions may be an important mechanism for different evolutionary changes in orthologous genes of different species. The pathways by which DRB6 molecules may be expressed on the membrane are unclear but other examples of truncated protein expression have also been described, even within the human major histocompatibility complex (i. e., in HLA-G). Finally, the presence of mature HLA-DRB6 mRNA molecules supports the notion that splicing may take place even in the absence of a canonical 3'UT polyadenylation signal.
- Published
- 1998
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33. Allelic diversity at the primate MHC-DMB locus: presence of a conserved tyrosine inhibitory motif in the cytoplasmic tail.
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Alvarez M, Recio MJ, Martinez-Laso J, Pérez-Blas M, Garcia-de-la-Torre C, Vargas-Alarcón G, Alegre R, Gomez-Casado E, and Arnaiz-Villena A
- Subjects
- Amino Acid Sequence, Animals, Base Sequence, Conserved Sequence, DNA Primers genetics, DNA, Complementary genetics, Evolution, Molecular, Gorilla gorilla, HLA-D Antigens chemistry, HLA-D Antigens genetics, Histocompatibility Antigens Class II chemistry, Histocompatibility Antigens Class II genetics, Humans, Molecular Sequence Data, Pan paniscus, Pan troglodytes, Pongo pygmaeus, Sequence Homology, Amino Acid, Tyrosine genetics, Alleles, Genes, MHC Class II, Genetic Variation, Primates genetics, Primates immunology
- Abstract
Ten new primate Mhc-DMB complete cDNA sequences have been obtained in chimpanzee (n=four), gorilla (n=three) and orangutan (n=three); this gene has not been previously studied in these species. Exonic allelism has been recorded all along the molecule domains and also in the leader peptide, but not in the transmembrane segment. An analysis of the residues critical in the conformation of the Mhc-DR peptide-binding site was done in order to look for a Mhc-DR homologue site; synonymous substitutions are favoured in this homologous HLA-DM region. This is another finding that supports the possibility that DM could not be typically presenting molecules. The immunoreceptor inhibition motif Tyr 230-Thr/Ser 231-Pro 232-Leu 233 (ITIM) is invariantly present in apes for at least 15 million years, and may have a double function: 1) To direct DMB-DMA molecules from the endoplasmic reticulum or cell surface towards the endosomal/lysosomal class II compartment and 2) to send an inhibitory signal to the cell in order to stop synthesis of unnecessary HLA-DR molecules, once all available antigenic peptides are loaded. Other molecules, like NK-cell receptors and Fc receptors, bear this type of tyrosine-based inhibitory motifs in order to switch off specific cell functions. DMB molecules (as previously shown in C4d molecules) do not present species-specific motifs in common chimpanzee, suggesting that this species is very close to gorilla or man; also, DMB, like C4d molecules, do not show a trans-species evolution pattern, suggesting the existence of extensive homogenization of DMB genes within each species or a recent generation of alleles. Finally, a clade grouping human and gorilla DMB cDNA sequences is obtained using a dendrogram (as for C4d trees); this is in contrast to others' results that obtain a human/chimpanzee clade using different DNA sequences.
- Published
- 1998
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34. Primate mhc-E and -G alleles
- Author
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Arnaiz-Villena A, Martinez-Laso J, Alvarez M, Castro MJ, Varela P, Gomez-Casado E, Suarez B, Recio MJ, Vargas-Alarcon G, and Morales P
- Published
- 1998
- Full Text
- View/download PDF
35. Mhc-E polymorphism in Pongidae primates: the same allele is found in two different species.
- Author
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Suárez B, Morales P, Castro MJ, Fernández-Soria V, Recio MJ, Pérez-Blas M, Alvarez M, Díaz-Campos N, and Arnaiz-Villena A
- Subjects
- Animals, Base Sequence, Cell Line, Transformed, DNA, Complementary, Gorilla gorilla immunology, HLA Antigens genetics, Histocompatibility Antigens Class I genetics, Hominidae genetics, Hominidae immunology, Humans, Molecular Sequence Data, Pan paniscus immunology, Pan troglodytes immunology, Phylogeny, Pongo pygmaeus immunology, Sequence Homology, Nucleic Acid, Species Specificity, HLA-E Antigens, Alleles, Gorilla gorilla genetics, Major Histocompatibility Complex, Pan paniscus genetics, Pan troglodytes genetics, Polymorphism, Genetic, Pongo pygmaeus genetics
- Abstract
Mhc-E intron 1, exon 2, intron 2, and exon 3 from pygmy chimpanzee (Pan paniscus), chimpanzee (Pan troglodytes), gorilla (Gorilla gorilla) and orangutan (Pongo pygmaeus) have been sequenced; six new Mhc-E alleles have been obtained but sequence changes are only placed either in introns or in synonymous exonic bases. One pygmy chimpanzee Mhc-E DNA sequence is identical to another sequence from chimpanzee; the fact that no variation is found also at the intronic level suggests that these two species of chimpanzee may have recently separated and/or that both of them might only represent subspecies. Mhc-E phylogenetic trees separate two evolutionary groups: Pongidae, including humans, and Cercopithecinae; this is also found by studying another non-classical class I gene, Mhc-G. The Mhc-E alleles' invariance at the protein level supports that strong selective forces are operating at the Mhc-E locus, as has also been found in both Cercopithecinae and humans. These allelic and evolutionary data suggest an altogether different functionality for HLA-E (and also HLA-G) compared with classical class I proteins: i.e., sending negative (tolerogenic) signals to NK and T cells.
- Published
- 1997
- Full Text
- View/download PDF
36. Primate Mhc-E and -G alleles.
- Author
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Arnaiz-Villena A, Martinez-Laso J, Alvarez M, Castro MJ, Varela P, Gomez-Casado E, Suarez B, Recio MJ, Vargas-Alarcón G, and Morales P
- Subjects
- Animals, Base Sequence, Chromosome Mapping, Consensus Sequence, Introns, Models, Molecular, Molecular Sequence Data, Alleles, Histocompatibility Antigens genetics, Major Histocompatibility Complex, Primates genetics
- Published
- 1997
- Full Text
- View/download PDF
37. Allelic diversity at the primate Mhc-G locus: exon 3 bears stop codons in all Cercopithecinae sequences.
- Author
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Castro MJ, Morales P, Fernández-Soria V, Suarez B, Recio MJ, Alvarez M, Martín-Villa M, and Arnaiz-Villena A
- Subjects
- Alleles, Animals, Base Sequence, Biological Evolution, Exons, HLA-G Antigens, Humans, Introns, Macaca genetics, Molecular Sequence Data, Pan troglodytes genetics, Phylogeny, Polymorphism, Genetic, Sequence Alignment, Sequence Homology, Nucleic Acid, Cercopithecinae genetics, HLA Antigens genetics, Histocompatibility Antigens Class I genetics, Major Histocompatibility Complex
- Abstract
Twenty-seven major histocompatibility complex (Mhc)-G exon 2, exon 3, and exon 2 and 3 allelic sequences were obtained together with 12 different intron 2 sequences. Homo sapiens, Pan troglodytes, Pan paniscus, Gorilla gorilla, Pongo pygmaeus, Macaca fascicularis, Macaca mulatta, and Cercopithecus aethiops individuals were studied. Polymorphism does not follow the classical pattern of three hypervariable regions per domain and is found in all species studied; exon 3 (equivalent to the alpha 2 protein domain) shows stop codons in the Cercopithecinae group but not in the Pongidae and human groups. Dendrograms show that cotton top tamarin (Saguinus oedipus) Mhc-G sequences are closer to Homo sapiens and Pongidae than to Cercopithecinae, probably due to the stop codons existing at exon 3 of the latter. There is a clear trans-species evolution of allelism in Cercopithecinae and also in exon 2 of all the other apes studied, but a generation of allelism within each species may be present on exon 3 sequences. This discrepancy may be due to the preferential use of exon 2 over exon 3 at the mRNA splicing level within each species in order to obtain the appropriate functional G product. Mhc-G intron 2 shows conserved motifs in all species studied, particularly a 23 base pair deletion between positions 161 and 183 which is locus specific, and some of the invariant residues, important for peptide presentation, conserved in classical class I molecules from fish and reptiles to humans were not found in Mhc-G alleles; the intron 2 dendrogram also shows a particular pattern of allelism within each species. In summary, Mhc-G has substantial differences from other classical class I genes: polymorphism patterns, tissue distribution, gene structure, splicing variability, and probably an allelism variability within each species at exon 3. The G proteins may also be different. This indicates that the Mhc-G function may not be peptide presentation to the clonotypic T-cell receptor.
- Published
- 1996
- Full Text
- View/download PDF
38. A new sequence (Mhc-BJ ) showing similarity both to Mhc-B alleles and to the HLA-J pseudogene in Macaca mulatta.
- Author
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Alvarez M, Martinez-Laso J, Recio MJ, Diaz-Campos N, Gomez-Gasado E, Vargas-Alarcon G, de la Torre CG, and Arnaiz-Villena A
- Subjects
- Animals, Cell Line, Exons, Histocompatibility Antigens genetics, Macaca mulatta, Major Histocompatibility Complex, Molecular Sequence Data, Histocompatibility Antigens Class I genetics, Pseudogenes
- Published
- 1996
- Full Text
- View/download PDF
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