Mutant Cohesin in Premature Ovarian Failure
N Engl J Med 2014; 370:943-949, March 6, 2014
Sandrine Caburet, Ph.D., Valerie A. Arboleda, Ph.D., Elena Llano, Ph.D., Paul A. Overbeek, Ph.D., Jose Luis Barbero, Ph.D., Kazuhiro Oka, Ph.D., Wilbur Harrison, M.S., Daniel Vaiman, Ph.D., Ziva Ben-Neriah, M.D., Ignacio García-Tuñón, Ph.D., Marc Fellous, M.D., Ph.D., Alberto M. Pendás, Ph.D., Reiner A. Veitia, Ph.D., and Eric Vilain, M.D., Ph.D.


Short description:
Few genes have been implicated in sporadic premature ovarian failure. This study implicates STAG3, which encodes a cohesin, a protein that mediates chromosome pairing during meiosis.
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Abstract taken from PubMed

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.
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