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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。
Ubiquitin-specific protease 26 (USP26) gene is located in Xq26.2, only a single exon, encoding a protein consisting of 913 amino acids, USP26 belongs to the deubiquitinase family, specifically expressed in the testes. Common mutation types of USP26 gene are insertional and point mutations. At present, the relationship between the gene and spermatogenesis is still not consistent in all studies. In this paper, the relationship between USP26 gene and spermatogenesis disorders and its research progress are reviewed in terms of the relationship between the mutation of USP26 and the disorder of spermatogenesis, the ethnicity and geographical distribution of USP26 mutations and the evolution of USP26 gene.