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Massachusetts Medical Society, New England Journal of Medicine, 10(370), p. 943-949

DOI: 10.1056/nejmoa1309635

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Mutant Cohesin in Premature Ovarian Failure

Journal article published in 2014 by Sandrine Caburet, Valerie A. Arboleda ORCID, Elena Llano, Paul A. Overbeek, Jose Luis Barbero, Kazuhiro Oka, Wilbur Harrison, Daniel Vaiman, Ziva Ben-Neriah, Ignacio García-Tuñón ORCID, Marc Fellous, Alberto M. Pendás ORCID, Reiner A. Veitia, Eric Vilain
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This paper is available in a repository.

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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.