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; 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 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

doi:10.1038/sj.ejhg.5201263

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

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	993-1000
Number of pages	8
Journal	European Journal of Human Genetics
Volume	12
Issue number	12
DOIs	https://doi.org/10.1038/sj.ejhg.5201263
Publication status	Published - Dec 2004

Keywords / Materials (for Non-textual outputs)

Chromosome Aberrations
Chromosome Inversion
Chromosomes, Human, Pair 1
Humans
Infertility, Male
Male
Oligospermia
Translocation, Genetic

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10.1038/sj.ejhg.5201263

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Bache, I., Assche, E. V., 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., ... 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

@article{ba9e286da1a742d7b0abcbb3bf8dba60,

title = "An excess of chromosome 1 breakpoints in male infertility",

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.",

keywords = "Chromosome Aberrations, Chromosome Inversion, Chromosomes, Human, Pair 1, Humans, Infertility, Male, Male, Oligospermia, Translocation, Genetic",

author = "Iben Bache and Assche, {Elvire Van} and Sultan Cingoz and Merete Bugge and Zeynep T{\"u}mer and Mads Hjorth and Claes Lundsteen and James Lespinasse and Kirsten Winther and Anita Niebuhr and Vera Kalscheuer and Inge Liebaers and Maryse Bonduelle and Herman Tournaye and Carmen Ayuso and Gotthold Barbi and Elisabeth Blennow and Georges Bourrouillou and Karen Brondum-Nielsen and Gert Bruun-Petersen and Marie-Francoise Croquette and Sophie Dahoun and Bruno Dallapiccola and Val Davison and Bruno Delobel and Hans-Christoph Duba and Laurence Duprez and Malcolm Ferguson-Smith and Fitzpatrick, {David R} and Elizabeth Grace and Ingo Hansmann and Maj Hult{\'e}n and Jensen, {Peter Ka} and Philippe Jonveaux and Ulf Kristoffersson and Isidora Lopez-Pajares and Jean McGowan-Jordan and Jan Murken and Maria Orera and Tony Parkin and Eberhard Passarge and Carmen Ramos and Kirsten Rasmussen and Werner Schempp and Regine Schubert and Eberhard Schwinger and Fiorella Shabtai and Kim Smith and Raymond Stallings and Margarita Stefanova and Lisbeth Tranebjerg and Catherine Turleau and {van der Hagen}, {Carl Birger} and Michel Vekemans and Vokac, {Nadja Kokalj} and Klaus Wagner and Jan Wahlstroem and Leopoldo Zelante and Niels Tommerup",

year = "2004",

month = dec,

doi = "10.1038/sj.ejhg.5201263",

language = "English",

volume = "12",

pages = "993--1000",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

number = "12",

}

Bache, I, Assche, EV, 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, M-F, Dahoun, S, Dallapiccola, B, Davison, V, Delobel, B, Duba, H-C, Duprez, L, Ferguson-Smith, M, Fitzpatrick, DR, Grace, E, Hansmann, I, Hultén, M, Jensen, PK, Jonveaux, P, Kristoffersson, 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

TY - JOUR

T1 - An excess of chromosome 1 breakpoints in male infertility

AU - Bache, Iben

AU - Assche, Elvire Van

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 Ka

AU - Jonveaux, Philippe

AU - Kristoffersson, 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

AU - Stallings, Raymond

AU - Stefanova, Margarita

AU - Tranebjerg, Lisbeth

AU - Turleau, Catherine

AU - van der Hagen, Carl Birger

AU - Vekemans, Michel

AU - Vokac, Nadja Kokalj

AU - Wagner, Klaus

AU - Wahlstroem, Jan

AU - Zelante, Leopoldo

AU - Tommerup, Niels

PY - 2004/12

Y1 - 2004/12

N2 - 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.

AB - 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.

KW - Chromosome Aberrations

KW - Chromosome Inversion

KW - Chromosomes, Human, Pair 1

KW - Humans

KW - Infertility, Male

KW - Male

KW - Oligospermia

KW - Translocation, Genetic

U2 - 10.1038/sj.ejhg.5201263

DO - 10.1038/sj.ejhg.5201263

M3 - Article

C2 - 15367911

SN - 1018-4813

VL - 12

SP - 993

EP - 1000

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 12

ER -

An excess of chromosome 1 breakpoints in male infertility

Abstract

Keywords / Materials (for Non-textual outputs)

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