CATSPER2, a human autosomal nonsyndromic male infertility gene.
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 approximately 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.
Avidan
Nili
N
Department of Molecular Genetics, The Crown Human Genome Center, The Weizmann Institute of Science, Rehovot 76100, Israel.
Tamary
Hannah
H
Dgany
Orly
O
Cattan
Daniel
D
Pariente
Alexandre
A
Thulliez
Michel
M
Borot
Nicolas
N
Moati
Lucien
L
Barthelme
Alain
A
Shalmon
Lea
L
Krasnov
Tatyana
T
Ben-Asher
Edna
E
Olender
Tsvyia
T
Khen
Miriam
M
Yaniv
Issac
I
Zaizov
Rina
R
Shalev
Hanna
H
Delaunay
Jean
J
Fellous
Marc
M
Lancet
Doron
D
Beckmann
Jacques S
JS
D000742:Anemia, Dyserythropoietic, Congenital / Q000235:genetics*; D015220:Calcium Channels / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15; D003638:Deafness / Q000235:genetics*; D005260:Female; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D007473:Ion Channels / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D029589:Seminal Plasma Proteins / Q000235:genetics*; D017384:Sequence Deletion
C482695:CATSPER2 protein, human; D015220:Calcium Channels; C480636:CatSper2 protein, mouse; D007473:Ion Channels; D029589:Seminal Plasma Proteins