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Mutant cohesin in premature ovarian failure.

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.

Pubmed ID: 24597867 RIS Download

Mesh terms: Animals | Cell Cycle Proteins | Chromosomal Proteins, Non-Histone | Disease Models, Animal | Female | Humans | Infertility, Female | Mice | Mutation | Nuclear Proteins | Pedigree | Primary Ovarian Insufficiency

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Associated grants

  • Agency: NICHD NIH HHS, Id: R01 HD044513
  • Agency: NICHD NIH HHS, Id: R01HD068138
  • Agency: NICHD NIH HHS, Id: F31 HD068136
  • Agency: NICHD NIH HHS, Id: R01 HD068138
  • Agency: NICHD NIH HHS, Id: R01HD044513
  • Agency: NICHD NIH HHS, Id: F31HD068136

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