精子鞭毛多发形态异常的相关基因研究进展

Progress in the study of the related genes of multiple morphological abnormalities of the sperm flagellum

精子具有高度特异性的结构特征,这是其所具有的独特受精功能所必需的。其中,精子鞭毛是精子产生运动所必需的一种特定细胞器。鞭毛的完整性对正常精子功能的维持至关重要,鞭毛缺陷常导致精子的运动能力减弱或缺失,从而引起男性不育。鞭毛多发形态异常(multiple morphological abnormalities of the sperm flagellum,MMAF)是导致男性不育的最严重的精子鞭毛缺陷之一,其特征是精子鞭毛存在变短、卷曲、缺失和不规则的现象。人类精子鞭毛中存在1000种以上的蛋白,因而形成MMAF的病因具有明显遗传异质性。近年来,对MMAF表型的基因组学研究已经鉴定出20余种导致MMAF和不育的突变基因。本文总结了导致MMAF的相关基因编码的蛋白信息、定位特征及其潜在的功能。

Spermatozoa have highly specific structural characteristics,which are necessary for their unique function of fertilization.Among them,sperm flagellum is a specific organelle which is necessary for sperm movement.The integrity of the flagellum is crucial to the maintenance of normal sperm function.Flagellum defects often lead to the reduction or loss of sperm motility,which lead to male infertility.Multiple morphological abnormalities of the sperm flagellum(MMAF)is one of the most serious defects of sperm flagella leading to male infertility,which is characterized by the short,curly,missing and irregular caliber of sperm flagellum.Recent studies have shown that there are more than 1000 kinds of proteins in human sperm flagella,so the etiology of MMAF has obvious genetic heterogeneity.In recent years,genomics studies of the MMAF phenotype have identified over 20 mutated genes leading to MMAF and infertility.In this paper,we summarized the information of the related genes causing MMAF,including their coding protein characteristics,specific localization and potential functions.