CATSPER2, a human autosomal nonsyndromic male infertility gene
CATSPER2, a human autosomal nonsyndromic male infertility gene
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DOI：
10.1038/sj.ejhg.5200991
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发表时间：
2003-07-01
影响因子：
5.2
通讯作者：
Beckmann, JS
中科院分区：
文献类型：
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作者：
Avidan, N;Tamary, H;Beckmann, JS
在15q15.1 - 15.3的先天性红细胞生成不良性贫血I型（CDAI）[MIM 224120]基因的定位克隆过程中，我们检查了一个法国血统的家庭，其中先证者除了CDAI外，还患有弱畸形精子症和非综合征性耳聋。他的两个兄弟有相似的表型。所有三个兄弟姐妹都是CDA 1突变的纯合子携带者，也是染色体15 q15上106 kb串联重复序列近端拷贝的远端类似于70 kb缺失的纯合子携带者。这些重复序列编码四个基因，其远端拷贝可以被认为是假基因。缺乏功能性立体定向蛋白和CATSPER 2（一种在精子中特异性表达的电压门控阳离子通道）可以解释观察到的耳聋和男性不育表型。据我们所知，CATSPER 2参与弱畸形精子症是首次描述与非综合征性男性不育相关的人类常染色体基因缺陷。
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 similar to70 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.