《生命科学》 2018, 30(2): 169-177

Piwi/piRNA调控异常与男性不育症

王　鑫，李智彤，刘默芳*

(中国科学院上海生物化学与细胞生物学研究所，上海 200031)

摘　要：摘　要：男性不育是一个全球性的人口与健康问题，主要病因是少弱畸形精子症或不明原因。最近的生殖生物学和临床医学研究发现了一系列与男性不育相关的基因突变和调控通路，促进了对男性不育致病原因及机理的认识。piRNA (piwi-interacting RNA) 是2006 年发现的一类动物生殖细胞特异性小分子非编码RNA，通过与Piwi 家族蛋白结合形成Piwi/piRNA 复合物，在沉默转座子、维持生殖细胞基因组稳定性和完整性、调控生殖细胞发育分化和配子形成等过程中发挥不可或缺的重要生物学功能。近期的研究提示，Piwi/piRNA 调控通路异常与男性不育相关。现简要总结和概述了近期关于Piwi/piRNA 调控通路在精子发生和男性不育中的生物学功能和机制方面的研究进展。

Piwi/piRNA dysregulation and male infertility

WANG Xin， LI Zhi-Tong， LIU Mo-Fang*

(State Key Laboratory of Molecular Biology， Shanghai Key Laboratory of Molecular Andrology， CAS Center for Excellence in Molecular Cell Science， Shanghai Institute of Biochemistry and Cell Biology， Chinese Academy of Sciences， University of Chinese Academy of Sciences， Shanghai 200031， China)

Abstract: Abstract: Male infertility is a serious social problem all over the world， with major abnormalities as oligo-asthenoteratozoospermia and no demonstrable cause. Recent findings in reproduction biological and clinical studies have advanced our understanding of male infertile factors and underlying pathological mechanisms. Importantly， a number of genetic mutations and regulatory pathways have been identified to be correlated with male infertility. piRNAs (Piwi-interacting RNAs) were identified in animal germlines as a novel class of small noncoding RNAs in 2006. Increasing evidence shows that piRNAs， in complex with Piwi proteins， suppress transposable elements and protect the integrity of the genome in animal germ cells， and are essential for germline development and gametogenesis in animals. Recent studies implicate that dysregulation in Piwi/piRNA pathway is associated with male infertility. In this review， we briefly summarized the recent progresses in understanding the biological function and molecular mechanisms of Piwi/piRNA regulation in spermatogenesis and male infertility.