Mutant cohesin in premature ovarian failure.
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ABSTRACT:
SUBMITTER: Caburet S
PROVIDER: S-EPMC4068824 | biostudies-literature | 2014 Mar
REPOSITORIES: biostudies-literature
Publications
Mutant cohesin in premature ovarian failure.
Caburet Sandrine S Arboleda Valerie A VA Llano Elena E Overbeek Paul A PA Barbero Jose Luis JL Oka Kazuhiro K Harrison Wilbur W Vaiman Daniel D Ben-Neriah Ziva Z García-Tuñón Ignacio I Fellous Marc M Pendás Alberto M AM Veitia Reiner A RA Vilain Eric E
The New England journal of medicine 20140301 10
Premature ovarian failure is a major cause of female infertility. The genetic causes of this disorder remain unknown in most patients. Using whole-exome sequence analysis of a large consanguineous family with inherited premature ovarian failure, we identified a homozygous 1-bp deletion inducing a frameshift mutation in STAG3 on chromosome 7. STAG3 encodes a meiosis-specific subunit of the cohesin ring, which ensures correct sister chromatid cohesion. Female mice devoid of Stag3 are sterile, and ...[more]
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