减数分裂联会复合体异常与不孕不育相关性研究进展

doi:10.16288/j.yczz.21-319

遗传 ›› 2021, Vol. 43 ›› Issue (12): 1142-1148.doi: 10.16288/j.yczz.21-319

减数分裂联会复合体异常与不孕不育相关性研究进展

聂辉(), 张译文, 李佳宁, 王楠楠, 徐澜

山东师范大学生命科学学院,济南 250014

收稿日期:2021-09-06 修回日期:2021-10-23 出版日期:2021-12-20 发布日期:2021-11-24
通讯作者: 聂辉 E-mail:niehui@sdnu.edu.cn
基金资助:
山东省自然科学基金项目编号(ZR2019PC050);山东师范大学大学生创新创业训练计划项目资助编号(S202010445162)

Progress on the correlation between the abnormal synaptonemal complex and infertility

Hui Nie(), Yiwen Zhang, Jianing Li, Nannan Wang, Lan Xu

College of Life Sciences, Shandong Normal University, Jinan 250014, China

Received:2021-09-06 Revised:2021-10-23 Online:2021-12-20 Published:2021-11-24
Contact: Nie Hui E-mail:niehui@sdnu.edu.cn
Supported by:
Supported by the Natural Science Foundation of Shandong Province No(ZR2019PC050);the Innovation and Entrepreneurship Training Program of Shandong Normal University No(S202010445162)

摘要/Abstract

摘要：

减数分裂是由二倍体的生殖细胞产生单倍体的配子的过程,是有性生殖的核心。联会复合体是同源染色体之间形成的超分子结构,具有稳定同源染色体配对、促进遗传交叉形成等功能。越来越多的研究表明联会复合体异常是造成人类不孕不育的重要原因之一。本文主要综述了联会复合体中央区域异常(如SYCE1/2/3、TEX12、SIX6OS1、SYCP1突变)及侧向元件缺陷(如SYCP2、SYCP3突变)与不孕不育的相关性研究,以期为深入理解减数分裂错误导致生殖健康问题的病理机制提供理论参考。

关键词: 减数分裂, 联会复合体, 不孕不育

Abstract:

Meiosis, the process of producing haploid gametes from diploid germ cells, acts as the core of sexual reproduction. The synaptonemal complex (SC) is a complex structure formed between homologous chromosomes, which can stabilize the pairing of homologous chromosomes and promote the formation of genetic crossover. More and more evidence suggested that the abnormal synaptonemal complex is closely associated with human infertility. In this review, we summarize the correlation between aberrant central region (CR) components (such as SYCE1/2/3, TEX12, SIX6OS1, SYCP1 mutations ) or lateral elements (LE) (such as SYCP2, SYCP3 mutations) and infertility, in order to provide references for further understanding of the pathological mechanisms underlying reproductive health problems caused by meiotic errors.

Key words: meiosis, synaptonemal complex, infertility

聂辉, 张译文, 李佳宁, 王楠楠, 徐澜. 减数分裂联会复合体异常与不孕不育相关性研究进展[J]. 遗传, 2021, 43(12): 1142-1148.

Hui Nie, Yiwen Zhang, Jianing Li, Nannan Wang, Lan Xu. Progress on the correlation between the abnormal synaptonemal complex and infertility[J]. Hereditas(Beijing), 2021, 43(12): 1142-1148.

图/表 2

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名称	SC位置	突变致小鼠表型	突变致人类疾病	参考文献
SYCE1	CR	雄性、雌性均不育	NOA、POI	[18~23]
SYCE2	CR	雄性、雌性均不育	/	[24,25]
SYCE3	CR	雄性、雌性均不育	/	[26]
TEX12	CR	雄性、雌性均不育	NOA	[27,28]
SIX6OS1	CR	雄性、雌性均不育	NOA、POI	[29,30]
SYCP1	CR	雄性、雌性均不育	/	[31,32]
SYCP2	LE	雄性不育,雌性生殖力降低	男性不育	[33,37]
SYCP3	LE	雄性不育,雌性生殖力降低	NOA、RPL (存在争议)	[34,38~41]

减数分裂联会复合体异常与不孕不育相关性研究进展

Progress on the correlation between the abnormal synaptonemal complex and infertility

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