2014 | Eric Vilain, et.al – Mutant Cohesin in Premature Ovarian Failure

ISG Director, Eric Vilain, and his research team have published a paper titled
Mutant Cohesin in Premature Ovarian Failure” in the premier medical journal
New England Journal of Medicine


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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