Mutant cohesin in premature ovarian failure.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 24597867.
- Also identified by DOI 10.1056/NEJMoa1309635 and PMC identifier 4068824.
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Abstract
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 their fetal oocytes are arrested at early prophase I, leading to oocyte depletion at 1 week of age.
Medical subject headings
- Cell Cycle Proteins
- Chromosomal Proteins, Non-Histone
- Mutation
- Nuclear Proteins
- Primary Ovarian Insufficiency