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-Petersen & 39 others Marie 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 K A Jensen, Philippe Jonveaux, Ulf Kristofferson, 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

Research output: Contribution to journalArticle

48 Citations (Scopus)

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was observed both for translocation and inversion carriers, especially pericentric inversions, both for published and unpublished cases, and was significantly associated with azoospermia.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

Original languageEnglish
Pages (from-to)993-1000
Number of pages8
JournalEuropean Journal of Human Genetics
Volume12
Issue number12
DOIs
Publication statusPublished - Dec 2004

Fingerprint

Chromosome Breakpoints
Chromosomes, Human, Pair 1
Male Infertility
Infertility
Azoospermia
Sex Chromosomes
Karyotype
Cytogenetics
Fertility
Cluster Analysis
Databases

Keywords

  • Autosomal loci
  • Chromosome 1
  • Inversion
  • Male infertility
  • Translocation

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Bache, I., Van Assche, E., Cingoz, S., Bugge, M., Tümer, Z., Hjorth, M., ... Tommerup, N. (2004). An excess of chromosome 1 breakpoints in male infertility. European Journal of Human Genetics, 12(12), 993-1000. https://doi.org/10.1038/sj.ejhg.5201263

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; 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; Kristofferson, 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.

In: European Journal of Human Genetics, Vol. 12, No. 12, 12.2004, p. 993-1000.

Research output: Contribution to journalArticle

Bache, I, Van Assche, E, Cingoz, S, Bugge, M, Tümer, Z, Hjorth, M, Lundsteen, C, Lespinasse, J, Winther, K, Niebuhr, A, Kalscheuer, V, Liebaers, I, Bonduelle, M, Tournaye, H, Ayuso, C, Barbi, G, Blennow, E, Bourrouillou, G, Brondum-Nielsen, K, Bruun-Petersen, G, Croquette, MF, Dahoun, S, Dallapiccola, B, Davison, V, Delobel, B, Duba, HC, Duprez, L, Ferguson-Smith, M, FitzPatrick, DR, Grace, E, Hansmann, I, Hultén, M, Jensen, PKA, Jonveaux, P, Kristofferson, U, Lopez-Pajares, I, McGowan-Jordan, J, Murken, J, Orera, M, Parkin, T, Passarge, E, Ramos, C, Rasmussen, K, Schempp, W, Schubert, R, Schwinger, E, Shabtai, F, Smith, K, Stallings, R, Stefanova, M, Tranebjerg, L, Turleau, C, Van der Hagen, CB, Vekemans, M, Vokac, NK, Wagner, K, Wahlstroem, J, Zelante, L & Tommerup, N 2004, 'An excess of chromosome 1 breakpoints in male infertility', European Journal of Human Genetics, vol. 12, no. 12, pp. 993-1000. https://doi.org/10.1038/sj.ejhg.5201263
Bache I, Van Assche E, Cingoz S, Bugge M, Tümer Z, Hjorth M et al. An excess of chromosome 1 breakpoints in male infertility. European Journal of Human Genetics. 2004 Dec;12(12):993-1000. https://doi.org/10.1038/sj.ejhg.5201263
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 ; Kristofferson, 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. / An excess of chromosome 1 breakpoints in male infertility. In: European Journal of Human Genetics. 2004 ; Vol. 12, No. 12. pp. 993-1000.
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AU - Cingoz, Sultan

AU - Bugge, Merete

AU - Tümer, Zeynep

AU - Hjorth, Mads

AU - Lundsteen, Claes

AU - Lespinasse, James

AU - Winther, Kirsten

AU - Niebuhr, Anita

AU - Kalscheuer, Vera

AU - Liebaers, Inge

AU - Bonduelle, Maryse

AU - Tournaye, Herman

AU - Ayuso, Carmen

AU - Barbi, Gotthold

AU - Blennow, Elisabeth

AU - Bourrouillou, Georges

AU - Brondum-Nielsen, Karen

AU - Bruun-Petersen, Gert

AU - Croquette, Marie Francoise

AU - Dahoun, Sophie

AU - Dallapiccola, Bruno

AU - Davison, Val

AU - Delobel, Bruno

AU - Duba, Hans Christoph

AU - Duprez, Laurence

AU - Ferguson-Smith, Malcolm

AU - FitzPatrick, David R.

AU - Grace, Elizabeth

AU - Hansmann, Ingo

AU - Hultén, Maj

AU - Jensen, Peter K A

AU - Jonveaux, Philippe

AU - Kristofferson, Ulf

AU - Lopez-Pajares, Isidora

AU - McGowan-Jordan, Jean

AU - Murken, Jan

AU - Orera, Maria

AU - Parkin, Tony

AU - Passarge, Eberhard

AU - Ramos, Carmen

AU - Rasmussen, Kirsten

AU - Schempp, Werner

AU - Schubert, Regine

AU - Schwinger, Eberhard

AU - Shabtai, Fiorella

AU - Smith, Kim

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AU - Stefanova, Margarita

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