Mutant cohesin in premature ovarian failure.
نویسندگان
چکیده
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.
منابع مشابه
STAG3 is a strong candidate gene for male infertility.
Oligo- and azoospermia are severe forms of male infertility. However, known genetic factors account only for a small fraction of the cases. Recently, whole-exome sequencing in a large consanguineous family with inherited premature ovarian failure (POF) identified a homozygous frameshift mutation in the STAG3 gene leading to a premature stop codon. STAG3 encodes a meiosis-specific subunit of the...
متن کاملP-53: The Unexpected Occurrence of SpontaneousPregnancy during Hormone ReplacementTherapy for Premature Ovarian Failure
Background: Premature ovarian failure (POF) is defined by the association of amenorrhea, hypoestrogenism and elevated (menopausal) levels of serum gonadotropins before age of 40 years-old. This condition affects approximately %1 of women under 40 years of age. Physiologic replacement of ovarian steroid hormones seems rational until the age of normal menopause. Temporary return of ovarian functi...
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ورودعنوان ژورنال:
- The New England journal of medicine
دوره 370 10 شماره
صفحات -
تاریخ انتشار 2014