English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/97471
logo share SHARE logo core CORE   Add this article to your Mendeley library MendeleyBASE

Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL
Exportar a otros formatos:


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
Appears in Collections:(CIB) Artículos
(IBMCC) Artículos
Files in This Item:
File Description SizeFormat 
nejm-2014 Caburet.pdf576,3 kBAdobe PDFThumbnail
Show full item record
Review this work

WARNING: Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.