Ontology highlight
ABSTRACT:
SUBMITTER: Guo T
PROVIDER: S-EPMC5393145 | biostudies-literature | 2017 Apr
REPOSITORIES: biostudies-literature
Guo Ting T Zhao Shidou S Zhao Shigang S Chen Min M Li Guangyu G Jiao Xue X Wang Zhao Z Zhao Yueran Y Qin Yingying Y Gao Fei F Chen Zi-Jiang ZJ
Human molecular genetics 20170401 8
Primary ovarian insufficiency (POI) is a genetically heterogeneous disorder that occurs in familial or sporadic fashion. Through whole exome sequencing in a Chinese pedigree with POI, we identified a novel homozygous missense mutation (ENST00000375755: c.1459G > T, p.D487Y) in the MSH5 gene in two sisters with POI. The homologous mutation in mice resulted in atrophic ovaries without oocytes, and in vitro functional study revealed that mutant MSH5 impaired DNA homologous recombination repair. Fro ...[more]