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An excess of chromosome 1 breakpoints in male infertility.

Bache, Iben; Van Assche, Elvire; Cingoz, Sultan; Bugge, Merete; Tümer, Zeynep; Hjorth, Mads; Lundsteen, Claes; Lespinasse, James; Winther, Kirsten and Niebuhr, Anita, et al. (2004) In European Journal of Human Genetics 12(12). p.993-1000
Abstract
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... (More)
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was observed both for translocation and inversion carriers, especially pericentric inversions, both for published and unpublished cases, and was significantly associated with azoospermia.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. (Less)
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published
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keywords
male infertility, chromosome 1, translocation, inversion, autosomal loci
in
European Journal of Human Genetics
volume
12
issue
12
pages
993 - 1000
publisher
Nature Publishing Group
external identifiers
  • scopus:10044288203
ISSN
1476-5438
DOI
10.1038/sj.ejhg.5201263
language
English
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yes
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5584fee5-487e-4f07-8914-959c792e2b72 (old id 1130654)
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2008-06-12 14:20:23
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@article{5584fee5-487e-4f07-8914-959c792e2b72,
  abstract     = {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.},
  author       = {Bache, Iben and Van Assche, Elvire and Cingoz, Sultan and Bugge, Merete and Tümer, Zeynep and Hjorth, Mads and Lundsteen, Claes and Lespinasse, James and Winther, Kirsten and Niebuhr, Anita and Kalscheuer, Vera and Liebaers, Inge and Bonduelle, Maryse and Tournaye, Herman and Ayuso, Carmen and Barbi, Gotthold and Blennow, Elisabeth and Bourrouillou, Georges and Brondum-Nielsen, Karen and Bruun-Petersen, Gert and Croquette, Marie-Francoise and Dahoun, Sophie and Dallapiccola, Bruno and Davison, Val and Delobel, Bruno and Duba, Hans-Christoph and Duprez, Laurence and Ferguson-Smith, Malcolm and FitzPatrick, David R and Grace, Elizabeth and Hansmann, Ingo and Hultén, Maj and Jensen, Peter KA and Jonveaux, Philippe and Kristoffersson, Ulf and Lopez-Pajares, Isidora and McGowan-Jordan, Jean and Murken, Jan and Orera, Maria and Parkin, Tony and Passarge, Eberhard and Ramos, Carmen and Rasmussen, Kirsten and Schempp, Werner and Schubert, Regine and Schwinger, Eberhard and Shabtai, Fiorella and Smith, Kim and Stallings, Raymond and Stefanova, Margarita and Tranebjerg, Lisbeth and Turleau, Catherine and van der Hagen, Carl Birger and Vekemans, Michel and Kokalj Vokac, Nadja and Wagner, Klaus and Wahlstroem, Jan and Zelante, Leopoldo and Tommerup, Niels},
  issn         = {1476-5438},
  keyword      = {male infertility,chromosome 1,translocation,inversion,autosomal loci},
  language     = {eng},
  number       = {12},
  pages        = {993--1000},
  publisher    = {Nature Publishing Group},
  series       = {European Journal of Human Genetics},
  title        = {An excess of chromosome 1 breakpoints in male infertility.},
  url          = {http://dx.doi.org/10.1038/sj.ejhg.5201263},
  volume       = {12},
  year         = {2004},
}