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Title

Mutant cohesin in premature ovarian failure

AuthorsCaburet, Sandrine; Llano, Elena ; Barbero, José Luis ; García-Tuñón, Ignacio; Pendás, Alberto M. ; Veitia, Reiner A.; Vilain, Eric
Issue Date6-Mar-2014
PublisherMassachusetts Medical Society
CitationNew England Journal of Medicine 370(10): 943-949 (2014)
AbstractPremature 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.
Description7 p.- 2 fig.-- et al.
Publisher version (URL)http://dx.doi.org/10.1056/NEJMoa1309635
URIhttp://hdl.handle.net/10261/97471
DOI10.1056/NEJMoa1309635
ISSN0028-4793
E-ISSN1533-4406
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