Ontology highlight
ABSTRACT:
SUBMITTER: Caburet S
PROVIDER: S-EPMC4068824 | biostudies-literature | 2014 Mar
REPOSITORIES: biostudies-literature
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]