CATSPER2, a human autosomal nonsyndromic male infertility gene

Nili Avidan; Hannah Tamary; Orly Dgany; Daniel Cattan; Alexandre Pariente; Michel Thulliez; Nicolas Borot; Lucien Moati; Alain Barthelme; Lea Shalmon; Tatyana Krasnov; Edna Ben-Asher; Tsvyia Olender; Miriam Khen; Isaac Yaniv; Rina Zaizov; Hanna Shalev; Jean Delaunay; Marc Fellous; Doron Lancet; Jacques S. Beckmann

doi:10.1038/sj.ejhg.5200991

CATSPER2, a human autosomal nonsyndromic male infertility gene

Nili Avidan, Hannah Tamary, Orly Dgany, Daniel Cattan, Alexandre Pariente, Michel Thulliez, Nicolas Borot, Lucien Moati, Alain Barthelme, Lea Shalmon, Tatyana Krasnov, Edna Ben-Asher, Tsvyia Olender, Miriam Khen, Isaac Yaniv, Rina Zaizov, Hanna Shalev, Jean Delaunay, Marc Fellous, Doron LancetJacques S. Beckmann

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

176 Scopus citations

Abstract

In the course of positional cloning of the Congenital Dyserythropoietic Anemia type I (CDAI) [MIM 224120] gene on 15q15.1-15.3, we examined a family of French origin, in which the propositus suffered from asthenoteratozoospermia and nonsyndromic deafness in addition to CDAI. Two of his brothers had a similar phenotype. All three siblings were homozygous carriers of the CDA1 mutation as well as of a distally located ∼ 70 kb deletion of the proximal copy of a 106 kb tandem repeat on chromosome 15q15. These repeats encode four genes whose distal copies may be considered pseudogenes. Lack of functional stereocilin and CATSPER2 (a voltage-gate cation channel expressed specifically in spermatozoa) may explain the observed deafness and male infertility phenotypes. To the best of our knowledge, the involvement of CATSPER2 in asthenoteratozoospermia is the first description of a human autosomal gene defect associated with nonsyndromic male infertility.

Original language	English
Pages (from-to)	497-502
Number of pages	6
Journal	European Journal of Human Genetics
Volume	11
Issue number	7
DOIs	https://doi.org/10.1038/sj.ejhg.5200991
State	Published - 1 Jul 2003
Externally published	Yes

Keywords

15q15
CATSPER2
Contiguous gene syndromes
Genomic deletion
Male-infertility
Tandem duplication

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1038/sj.ejhg.5200991

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Avidan, N., Tamary, H., Dgany, O., Cattan, D., Pariente, A., Thulliez, M., Borot, N., Moati, L., Barthelme, A., Shalmon, L., Krasnov, T., Ben-Asher, E., Olender, T., Khen, M., Yaniv, I., Zaizov, R., Shalev, H., Delaunay, J., Fellous, M., ... Beckmann, J. S. (2003). CATSPER2, a human autosomal nonsyndromic male infertility gene. European Journal of Human Genetics, 11(7), 497-502. https://doi.org/10.1038/sj.ejhg.5200991

@article{0f84ef960bc347ca99d14a003861745f,

title = "CATSPER2, a human autosomal nonsyndromic male infertility gene",

abstract = "In the course of positional cloning of the Congenital Dyserythropoietic Anemia type I (CDAI) [MIM 224120] gene on 15q15.1-15.3, we examined a family of French origin, in which the propositus suffered from asthenoteratozoospermia and nonsyndromic deafness in addition to CDAI. Two of his brothers had a similar phenotype. All three siblings were homozygous carriers of the CDA1 mutation as well as of a distally located ∼ 70 kb deletion of the proximal copy of a 106 kb tandem repeat on chromosome 15q15. These repeats encode four genes whose distal copies may be considered pseudogenes. Lack of functional stereocilin and CATSPER2 (a voltage-gate cation channel expressed specifically in spermatozoa) may explain the observed deafness and male infertility phenotypes. To the best of our knowledge, the involvement of CATSPER2 in asthenoteratozoospermia is the first description of a human autosomal gene defect associated with nonsyndromic male infertility.",

keywords = "15q15, CATSPER2, Contiguous gene syndromes, Genomic deletion, Male-infertility, Tandem duplication",

author = "Nili Avidan and Hannah Tamary and Orly Dgany and Daniel Cattan and Alexandre Pariente and Michel Thulliez and Nicolas Borot and Lucien Moati and Alain Barthelme and Lea Shalmon and Tatyana Krasnov and Edna Ben-Asher and Tsvyia Olender and Miriam Khen and Isaac Yaniv and Rina Zaizov and Hanna Shalev and Jean Delaunay and Marc Fellous and Doron Lancet and Beckmann, {Jacques S.}",

note = "Funding Information: We are indebted to Professor E Fibach from the Hematology Department, Hadassah Medical Center, Jerusalem, Israel, for culturing erythroid precursors from peripheral blood. This work was supported by a grant from the Israel Ministry of Health (HT), and by the J Maus and G Ceasemann-Maus, Chair in Pediatric Hematology (RZ). It is also supported by the Crown Human Genome Center, an Israel Ministry of Science grant to the National Laboratory for Genome Infrastructure, the Alfred Krupp Foundation, the German–Israeli Foundation for Scientific Research and Development, and The Weizmann Institute Glasberg, Levy, Nathan Brunschwig and Levine funds (DL). Doron Lancet holds the Ralph and Lois Silver Chair in Human Genomics. JSB is a recipient of the Hermann-Mayer chair.",

year = "2003",

month = jul,

day = "1",

doi = "10.1038/sj.ejhg.5200991",

language = "English",

volume = "11",

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Avidan, N, Tamary, H, Dgany, O, Cattan, D, Pariente, A, Thulliez, M, Borot, N, Moati, L, Barthelme, A, Shalmon, L, Krasnov, T, Ben-Asher, E, Olender, T, Khen, M, Yaniv, I, Zaizov, R, Shalev, H, Delaunay, J, Fellous, M, Lancet, D & Beckmann, JS 2003, 'CATSPER2, a human autosomal nonsyndromic male infertility gene', European Journal of Human Genetics, vol. 11, no. 7, pp. 497-502. https://doi.org/10.1038/sj.ejhg.5200991

TY - JOUR

T1 - CATSPER2, a human autosomal nonsyndromic male infertility gene

AU - Avidan, Nili

AU - Tamary, Hannah

AU - Dgany, Orly

AU - Cattan, Daniel

AU - Pariente, Alexandre

AU - Thulliez, Michel

AU - Borot, Nicolas

AU - Moati, Lucien

AU - Barthelme, Alain

AU - Shalmon, Lea

AU - Krasnov, Tatyana

AU - Ben-Asher, Edna

AU - Olender, Tsvyia

AU - Khen, Miriam

AU - Yaniv, Isaac

AU - Zaizov, Rina

AU - Shalev, Hanna

AU - Delaunay, Jean

AU - Fellous, Marc

AU - Lancet, Doron

AU - Beckmann, Jacques S.

N1 - Funding Information: We are indebted to Professor E Fibach from the Hematology Department, Hadassah Medical Center, Jerusalem, Israel, for culturing erythroid precursors from peripheral blood. This work was supported by a grant from the Israel Ministry of Health (HT), and by the J Maus and G Ceasemann-Maus, Chair in Pediatric Hematology (RZ). It is also supported by the Crown Human Genome Center, an Israel Ministry of Science grant to the National Laboratory for Genome Infrastructure, the Alfred Krupp Foundation, the German–Israeli Foundation for Scientific Research and Development, and The Weizmann Institute Glasberg, Levy, Nathan Brunschwig and Levine funds (DL). Doron Lancet holds the Ralph and Lois Silver Chair in Human Genomics. JSB is a recipient of the Hermann-Mayer chair.

PY - 2003/7/1

Y1 - 2003/7/1

N2 - In the course of positional cloning of the Congenital Dyserythropoietic Anemia type I (CDAI) [MIM 224120] gene on 15q15.1-15.3, we examined a family of French origin, in which the propositus suffered from asthenoteratozoospermia and nonsyndromic deafness in addition to CDAI. Two of his brothers had a similar phenotype. All three siblings were homozygous carriers of the CDA1 mutation as well as of a distally located ∼ 70 kb deletion of the proximal copy of a 106 kb tandem repeat on chromosome 15q15. These repeats encode four genes whose distal copies may be considered pseudogenes. Lack of functional stereocilin and CATSPER2 (a voltage-gate cation channel expressed specifically in spermatozoa) may explain the observed deafness and male infertility phenotypes. To the best of our knowledge, the involvement of CATSPER2 in asthenoteratozoospermia is the first description of a human autosomal gene defect associated with nonsyndromic male infertility.

AB - In the course of positional cloning of the Congenital Dyserythropoietic Anemia type I (CDAI) [MIM 224120] gene on 15q15.1-15.3, we examined a family of French origin, in which the propositus suffered from asthenoteratozoospermia and nonsyndromic deafness in addition to CDAI. Two of his brothers had a similar phenotype. All three siblings were homozygous carriers of the CDA1 mutation as well as of a distally located ∼ 70 kb deletion of the proximal copy of a 106 kb tandem repeat on chromosome 15q15. These repeats encode four genes whose distal copies may be considered pseudogenes. Lack of functional stereocilin and CATSPER2 (a voltage-gate cation channel expressed specifically in spermatozoa) may explain the observed deafness and male infertility phenotypes. To the best of our knowledge, the involvement of CATSPER2 in asthenoteratozoospermia is the first description of a human autosomal gene defect associated with nonsyndromic male infertility.

KW - 15q15

KW - CATSPER2

KW - Contiguous gene syndromes

KW - Genomic deletion

KW - Male-infertility

KW - Tandem duplication

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U2 - 10.1038/sj.ejhg.5200991

DO - 10.1038/sj.ejhg.5200991

M3 - Article

AN - SCOPUS:10744230413

SN - 1018-4813

VL - 11

SP - 497

EP - 502

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 7

ER -

CATSPER2, a human autosomal nonsyndromic male infertility gene

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