An excess of chromosome 1 breakpoints in male infertility

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...

Full description

Saved in:

Bibliographic Details
Published in:	European journal of human genetics : EJHG Vol. 12; no. 12; pp. 993 - 1000
Main Authors:	BACHE, Ihen, VAN ASSCHE, Elvire, KALSCHEUER, Vera, LIEBAERS, Inge, BONDUELLE, Maryse, TOURNAYE, Herman, AYUSO, Carmen, BARBI, Gotthold, BLENNOW, Elisabeth, BOURROUILLOU, Georges, BRONDUM-NIELSEN, Karen, BRUUN-PETERSEN, Gert, CINGOZ, Sultan, CROQUETTE, Marie-Francoise, DAHOUN, Sophie, DALLAPICCOLA, Bruno, DAVISON, Val, DELOBEL, Bruno, DUBA, Hans-Christoph, DUPREZ, Laurence, FERGUSON-SMITH, Malcolm, FITZPATRICK, David R, GRACE, Elizabeth, BUGGE, Merete, HANSMANN, Ingo, HULTEN, Maj, JENSEN, Peter Ka, JONVEAUX, Philippe, KRISTOFFERSSON, Ulf, LOPEZ-PAJARES, Isidora, MCGOWAN-JORDAN, Jean, MURKEN, Jan, ORERA, Maria, PARKIN, Tony, TÜMER, Zeynep, PASSARGE, Eberhard, RAMOS, Carmen, RASMUSSEN, Kirsten, SCHEMPP, Werner, SCHUBERT, Regine, SCHWINGER, Eberhard, SHABTAI, Fiorella, SMITH, Kim, STALLINGS, Raymond, STEFANOVA, Margarita, HJORTH, Mads, TRANEBJERG, Lisbeth, TURLEAU, Catherine, BIRGER VAN DER HAGEN, Carl, VEKEMANS, Michel, KOKALJ VOKAC, Nadja, WAGNER, Klaus, WAHLSTROEM, Jan, ZELANTE, Leopoldo, TOMMERUP, Niels, LUNDSTEEN, Claes, LESPINASSE, James, WINTHER, Kirsten, NIEBUHR, Anita
Format:	Journal Article
Language:	English
Published:	Avenel, NJ Nature Publishing 01-12-2004 Nature Publishing Group
Subjects:	autosomal loci Basic Medicine Biological and medical sciences Birth control Breakpoints Chromosome 1 Chromosome Aberrations Chromosome Inversion Chromosome translocations Chromosomes Chromosomes, Human, Pair 1 Computer programs Cytogenetics Gene mapping Genes Genetics Genomes Gynecology. Andrology. Obstetrics Humans Infertility Infertility, Male - genetics Inversion Karyotypes Male male infertility Males Mapping Medical and Health Sciences Medical Genetics Medical sciences Medicin och hälsovetenskap Medicinsk genetik Medicinska och farmaceutiska grundvetenskaper Oligospermia - genetics Sex chromosomes Sperm Spermatogenesis Sterility. Assisted procreation translocation Translocation, Genetic Denmark Human Breakpoint Chromosome break Chromosome A1 Genetics Male sterility Male genital diseases
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1018-4813 1476-5438 1476-5438
DOI:	10.1038/sj.ejhg.5201263