USP26基因突变与精子发生研究进展

Mutation of the USP26 gene in spermatogenesis dysfunction

泛素特异蛋白酶26(USP26)基因位于Xq26.2,仅有单一外显子,编码由913个氨基酸组成的蛋白质,USP26属于去泛素化酶家族,特异表达于睾丸。USP26基因常见突变类型有插入突变和点突变。目前,该基因与精子发生的关系各研究报道还不一致。本文从USP26基因突变与精子发生障碍之间的关系,USP26基因突变的种族、地域分布差异和USP26基因进化方面,综述了USP26基因与精子发生障碍的关系和研究进展。

The ubiquitin specific protease 26 （USP26） gene is located at Xq26.2 and present as a single exon on the X chromosome encoding for a protein of 913 amino acids. It belongs to a large family of deubiquitinating enzymes,and is exclusively expressed in the testis. There are conflicting reports on whether mutations in USP26 are associated with male infertility. This article updates the researches on the USP26 gene,its complicated relationship with male spermatogenesis dysfunction,the role of its mutation in male infertility,its geographical or ethnic distribution,and its evolution.