2024-03-28T10:24:19Zhttp://digital.csic.es/dspace-oai/requestoai:digital.csic.es:10261/974712021-12-27T16:36:49Zcom_10261_86com_10261_1com_10261_112col_10261_339col_10261_365
00925njm 22002777a 4500
dc
Caburet, Sandrine
author
Llano, Elena
author
Barbero, José Luis
author
García-Tuñón, Ignacio
author
Pendás, Alberto M.
author
Veitia, Reiner A.
author
Vilain, Eric
author
2014-03-06
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.
New England Journal of Medicine 370(10): 943-949 (2014)
0028-4793
http://hdl.handle.net/10261/97471
10.1056/NEJMoa1309635
1533-4406
http://dx.doi.org/10.13039/501100005736
http://dx.doi.org/10.13039/501100004099
http://dx.doi.org/10.13039/501100004794
http://dx.doi.org/10.13039/100000002
http://dx.doi.org/10.13039/100005595
http://dx.doi.org/10.13039/501100003329
http://dx.doi.org/10.13039/501100006587
http://dx.doi.org/10.13039/501100014180
24597867
Mutant cohesin in premature ovarian failure