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An excess of chromosome 1 breakpoints in male infertility

Authors :
Lisbeth Tranebjerg
Zeynep Tümer
Iben Bache
Maria Orera
Vera M. Kalscheuer
Elisabeth Blennow
Val Davison
Klaus Wagner
David R. FitzPatrick
Isidora Lopez-Pajares
Laurence Duprez
Maj Hultén
Sultan Cingoz
Sophie Dahoun
Niels Tommerup
Margarita Stefanova
Ingo Hansmann
Jan Murken
Maryse Bonduelle
Bruno Dallapiccola
M.-F. Croquette
Tony Parkin
Kirsten Winther
Kim Smith
Fiorella Shabtai
Kirsten Rasmussen
Catherine Turleau
Claes Lundsteen
Anita Niebuhr
Elvire Van Assche
Gotthold Barbi
Eberhard Schwinger
Carl Birger van der Hagen
Bruno Delobel
Philippe Jonveaux
Nadja Kokalj Vokac
Peter Jensen
Inge Liebaers
Mads F. Hjorth
Georges Bourrouillou
Merete Bugge
Carmen Ramos
Regine Schubert
Leopoldo Zelante
Werner Schempp
Eberhard Passarge
Carmen Ayuso
Herman Tournaye
James Lespinasse
Malcolm A. Ferguson-Smith
Ulf Kristoffersson
Jan Wahlstroem
Gert Bruun-Petersen
Hans-Christoph Duba
Karen Brøndum-Nielsen
Michel Vekemans
Elizabeth Grace
Raymond L. Stallings
Jean McGowan-Jordan
Source :
University of Copenhagen
Publication Year :
2004

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was observed both for translocation and inversion carriers, especially pericentric inversions, both for published and unpublished cases, and was significantly associated with azoospermia.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

Details

Language :
English
Database :
OpenAIRE
Journal :
University of Copenhagen
Accession number :
edsair.doi.dedup.....45e7b3a73407cfbd694bd1f4fa97aaa8