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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents



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ID: 224261.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
An excess of chromosome 1 breakpoints in male infertility
Authors:Bache, Iben; Van Assche, Elvire; Cingoz, Sultan; Bugge, Merete; Tümer, Zeynep; Hjorth, Mads; Lundsteen, Claes; Lespinasse, James; Winther, Kirsten; Niebuhr, Anita; Kalscheuer, Vera; Liebaers, Inge; Bonduelle, Maryse; Tournaye, Herman; Ayuso, Carmen; Barbi, Gotthold; Blennow, Elisabeth; Bourrouillou, Georges; Brondum-Nielsen, Karen; Bruun-Petersen, Gert; Croquette, Marie-Francoise; Dahoun, Sophie; Dallapiccola, Bruno; Davison, Val; Delobel, Bruno; Duba, Hans-Christoph; Duprez, Laurence; Ferguson-Smith, Malcolm; FitzPatrick, David R; Grace, Elizabeth; Hansmann, Ingo; Hultén, Maj; Jensen, Peter K A; Jonveaux, Philippe; Kristoffersson, Ulf; Lopez-Pajares, Isidora; McGowan-Jordan, Jean; Murken, Jan; Orera, Maria; Parkin, Tony; Passarge, Eberhard; Ramos, Carmen; Rasmussen, Kirsten; Schempp, Werner; Schubert, Regine; Schwinger, Eberhard; Shabtai, Fiorella; Smith, Kim; Stallings, Raymond; Stefanova, Margarita; Tranebjerg, Lisbeth; Turleau, Catherine; van der Hagen, Carl Birger; Vekemans, Michel; Vokac, Nadja Kokalj; Wagner, Klaus; Wahlstroem, Jan; Zelante, Leopoldo; Tommerup, Niels
Language:English
Date of Publication (YYYY-MM-DD):2004-09-15
Title of Journal:European Journal of Human Genetics
Journal Abbrev.:Eur J Hum Genet
Volume:12
Issue / Number:12
Start Page:993
End Page:1000
Copyright:© 2004 Nature Publishing Group
Review Status:not specified
Audience:Experts Only
Abstract / Description:In a search for potential infertility loci, which might be revealed by clustering of chromosomal breakpoints, we compiled 464 infertile males with a balanced rearrangement from Mendelian Cytogenetics Network database (MCNdb) and compared their karyotypes with those of a Danish nation-wide cohort. We excluded Robertsonian translocations, rearrangements involving sex chromosomes and common variants. We identified 10 autosomal bands, five of which were on chromosome 1, with a large excess of breakpoints in the infertility group. Some of these could potentially harbour a male-specific infertility locus. However, a general excess of breakpoints almost everywhere on chromosome 1 was observed among the infertile males: 26.5 versus 14.5% in the cohort. This excess was observed both for translocation and inversion carriers, especially pericentric inversions, both for published and unpublished cases, and was significantly associated with azoospermia. The largest number of breakpoints was reported in 1q21; FISH mapping of four of these breakpoints revealed that they did not involve the same region at the molecular level. We suggest that chromosome 1 harbours a critical domain whose integrity is essential for male fertility.
Free Keywords:male infertility; chromosome 1; translocation; inversion; autosomal loci
External Publication Status:published
Document Type:Article
Version Comment:Automatic journal name synchronization
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:Clinical Genetics, The University Hospital, Rigshospitalet, Copenhagen, Denmark;
Cytogenetic Laboratory, General Hospital, Chambery, France;
Dept. Genetica Fundacion Jimenez Diaz, Madrid, Spain;
Department of Human Genetics, University of Ulm, Ulm, Germany;
Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden;
Laboratoire de Génétique, Hôpital Purpan, Toulouse, France;
Department of Medical Genetics, The John F. Kennedy Institute, Glostrup, Denmark;
Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark;
Association pour l'étude des anomalies Congenitales (A.E.A.C.), Centre Féron Vrau, Lille, France;
Division de Génétique Medicale, CMU, Geneva, Switzerland;
Istituto CSS-Mendel, Departimento di Medicina Sperimentale e Patologia, Unviersita La Sapienza, Rome, Italy;
Regional Genetic Laboratories, Birmingham Women's Hospital, Birmingham, United Kingdom,
Centre de Génétique Chromosomique, Hôpital St Vincent de Paul, Lille, France;
Institut fur Medizinische Biologie und Humangenetik, Universitat Innsbruck, Innsbruck, Austria;
Laboratoire de Cytogénétique, Hôpital Erasme, Bruxelles, Belgique;
Dep. of Pathology, Cambridge University, Cambridge, United Kingdom;
MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom;
South East Scotland Cytogenetics Service, Western General Hospital, Edinburgh, United Kingdom;
Institut fur Humangenetik, Georg August Universitaet, Goettingen and Institut fuer Humangenetik und Medizinische Biologie, Martin-Luther-Universitaet Halle-Wittenberg, Halle (Saale), Germany;
Department of Biological Sciences,University of Warwick, Coventry, United Kingdom;
Klinisk genetisk afdeling, Århus Universitetshospital, Århus, Denmark;
Laboratoire de Génétique Médicale, CHU Nancy-Brabois, Vandoeuvre les Nancy, France;
Department of Clinical Genetics, University Hospital, Lund, Sweden;
Department of Medical Genetics, Hospital Universitario La Paz, Madrid, Spain;
Cytogenetics Laboratory, Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada;
Abt. fuer Paediatrische Genetik, Kinderpoliklinik, Munich, Germany;
Laboratorio de Genetica, Hospital Gregorio Maranon, Madrid, RTIC Genetica Clinical y Molecular, Spain;
Clinical Cytogenetics Department, City Hospital NHS Trust, Nottingham, United Kingdom;
Institut für Humangenetik, Universitätsklinikum, Essen, Germany;
Department of Clinical Chemistry and Genetics, Odense University Hospital, Denmark;
Institute of Human Genetics, University of Freiburg, Freiburg, Germany;
Institute of Human Genetics, University of Bonn, Germany;
Department of Human Genetics, University of Luebeck, Luebeck, Germany;
Cytogenetic Laboratory, Hasharon Hospital, Golda Medical Centre, Petach-Tiqva, Israel;
Oxford Medical Genetics Laboratories, Churchill Hospital, Headington, Oxford, United Kingdom;
National Centre for Medical Genetics, Our Ladys Hospital for Sick Children, Dublin, Ireland;
Dept Medical Genetics, Medical University, Plovdir, Bulgaria;
Regionsykehuset i Tromsoe, Tromsoe, Norway;
Departement de Genetique, Hôpital Necker-Enfants Malades, Paris, France;
Institute of Medical Genetics, University of Oslo, Norway;
Service de cytogénétique, Hopital Necker Enfants malades, Paris, France;
Laboratory of Medical Genetics, Maribor Teaching Hospital, Maribor, Slovenia;
Institute of Medical Biology and Human Genetics, Karl-Franzens University of Graz, Graz, Austria;
Department of Clinical Genetics, East Hospital, Goeteborg, Sweden;
Medical Genetics Service, IRCCS-CSS Hospital, San Giovanni Rotondo, Italy.
Identifiers:ISSN:1018-4813
DOI:10.1038/sj.ejhg.5201263
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