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N Engl J Med. 2014 Mar 6;370(10):943-9. doi: 10.1056/NEJMoa1309635.

Mutant cohesin in premature ovarian failure.

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  • 1From Institut Jacques Monod, Université Paris Diderot (S.C., M.F., R.A.V.), and Institut Cochin, Université Paris Descartes, Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8104, INSERM (D.V., M.F.) - both in Paris; the Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles (V.A.A., E.V.); Departamento de Fisiología y Farmacología, Universidad de Salamanca (E.L.), and Instituto de Biología Molecular y Celular del Cáncer (E.L., I.G.-T., A.M.P.) - both in Salamanca, Spain; the Department of Molecular Cellular Biology, Baylor College of Medicine, Houston (P.A.O., K.O., W.H.); Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas, Madrid (J.L.B.); and the Department of Genetics, Hadassah University Hospital, Jerusalem (Z.B.-N.).

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.

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