Molecular Genetics of Premature Ovarian Insufficiency

被引：199

作者：

Jiao, Xue ^{[1
,2
,3
,4
]}

Ke, Hanni ^{[1
,2
,3
]}

Qin, Yingying ^{[1
,2
,3
]}

Chen, Zi-Jiang ^{[1
,2
,3
,5
,6
]}

机构：

[1] Shandong Univ, Ctr Reprod Med, Jinan 250021, Shandong, Peoples R China

[2] Natl Res Ctr Assisted Reprod Technol & Reprod Gen, Jinan 250021, Shandong, Peoples R China

[3] Shandong Univ, Key Lab Reprod Endocrinol, Minist Educ, Jinan 250021, Shandong, Peoples R China

[4] Shandong Univ, Suzhou Inst, Suzhou 215123, Jiangsu, Peoples R China

[5] Shanghai Jiao Tong Univ, Sch Med, Ren Ji Hosp, Ctr Reprod Med, Shanghai 200127, Peoples R China

[6] Shanghai Key Lab Assisted Reprod & Reprod Genet, Shanghai 200127, Peoples R China

来源：

TRENDS IN ENDOCRINOLOGY AND METABOLISM | 2018年 / 29卷 / 11期

基金：

中国国家自然科学基金;

关键词：

OF-FUNCTION MUTATIONS; CHROMOSOMAL INSTABILITY; DNA-REPAIR; HOMOLOGOUS RECOMBINATION; CANCER SUSCEPTIBILITY; FAILURE; ASSOCIATION; RECEPTOR; MEIOSIS; WOMEN;

D O I：

10.1016/j.tem.2018.07.002

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Premature ovarian insufficiency (POI) is highly heterogeneous in genetic etiology. Yet identifying causative genes has been challenging with candidate gene approaches. Recent approaches using next generation sequencing (NGS), especially whole exome sequencing (WES), in large POI pedigrees have identified new causatives and proposed relevant candidates, mainly enriched in DNA damage repair, homologous recombination, and meiosis. In the near future, NGS or whole genome sequencing will help better define genes involved in intricate regulatory networks. The research into miRNA and age at menopause represents an emerging field that will help unveil the molecular mechanisms underlying pathogenesis of POI. Shedding light on the genetic architecture is important in interpreting pathogenesis of POI, and will facilitate risk prediction for POI.

引用

页码：795 / 807

页数：13

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