An excess of chromosome 1 breakpoints in male infertility

Iben Bache, Elvire Van Assche, Sultan Cingoz, Merete Bugge, Zeynep Tümer, Mads Hjorth, Claes Lundsteen, James Lespinasse, Kirsten Winther, Anita Niebuhr, Vera Kalscheuer, Inge Liebaers, Maryse Bonduelle, Herman Tournaye, Carmen Ayuso, Gotthold Barbi, Elisabeth Blennow, Georges Bourrouillou, Karen Brondum-Nielsen, Gert Bruun-PetersenMarie-Francoise Croquette, Sophie Dahoun, Bruno Dallapiccola, Val Davison, Bruno Delobel, Hans-Christoph Duba, Laurence Duprez, Malcolm Ferguson-Smith, David R Fitzpatrick, Elizabeth Grace, Ingo Hansmann, Maj Hultén, Peter Ka Jensen, Philippe Jonveaux, Ulf Kristoffersson, Isidora Lopez-Pajares, Jean McGowan-Jordan, Jan Murken, Maria Orera, Tony Parkin, Eberhard Passarge, Carmen Ramos, Kirsten Rasmussen, Werner Schempp, Regine Schubert, Eberhard Schwinger, Fiorella Shabtai, Kim Smith, Raymond Stallings, Margarita Stefanova, Lisbeth Tranebjerg, Catherine Turleau, Carl Birger van der Hagen, Michel Vekemans, Nadja Kokalj Vokac, Klaus Wagner, Jan Wahlstroem, Leopoldo Zelante, Niels Tommerup


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was observed both for translocation and inversion carriers, especially pericentric inversions, both for published and unpublished cases, and was significantly associated with azoospermia.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.

TidsskriftEuropean journal of human genetics : EJHG
Udgave nummer12
Sider (fra-til)993-1000
Antal sider8
StatusUdgivet - dec. 2004
Udgivet eksterntJa


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