Mutant Cohesin in Premature Ovarian Failure

Few genes have been implicated in sporadic premature ovarian failure. This study implicates STAG3, which encodes a cohesin, a protein that mediates chromosome pairing during meiosis. Premature ovarian failure, the end point of primary ovarian insufficiency, affects approximately 1% of women worldwid...

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Bibliographic Details
Published in:The New England journal of medicine Vol. 370; no. 10; pp. 943 - 949
Main Authors: Caburet, Sandrine, Arboleda, Valerie A, Llano, Elena, Overbeek, Paul A, Barbero, Jose Luis, Oka, Kazuhiro, Harrison, Wilbur, Vaiman, Daniel, Ben-Neriah, Ziva, García-Tuñón, Ignacio, Fellous, Marc, Pendás, Alberto M, Veitia, Reiner A, Vilain, Eric
Format: Journal Article
Language:English
Published: Waltham, MA Massachusetts Medical Society 06.03.2014
Series:Brief Report
Subjects:
Animals
Biochemistry, Molecular Biology
Biological and medical sciences
Cell Cycle Proteins
Cell Cycle Proteins - genetics
Chromosomal Proteins, Non-Histone
Chromosomal Proteins, Non-Histone - genetics
Chromosome 7
Chromosome deletion
Cohesin
Cohesins
Disease Models, Animal
Diseases of mother, fetus and pregnancy
Female
Fetuses
Frameshift mutation
Gene deletion
General aspects
Genetics
Gynecology and obstetrics
Gynecology. Andrology. Obstetrics
Human health and pathology
Humans
Infertility
Infertility, Female
Infertility, Female - genetics
Life Sciences
Medical sciences
Meiosis
Mice
Mutation
Nuclear Proteins
Nuclear Proteins - genetics
Oocytes
Pedigree
Pregnancy. Fetus. Placenta
Primary Ovarian Insufficiency
Primary Ovarian Insufficiency - genetics
Prophase
Reproductive status
Reproductive system
Womens health
Los Angeles California
United States > US
Endocrinopathy
Medicine
Premature
Ovarian diseases
Ovarian failure
Female genital diseases
ISSN:0028-4793, 1533-4406, 1533-4406
Online Access:Get full text
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Description
Summary:Few genes have been implicated in sporadic premature ovarian failure. This study implicates STAG3, which encodes a cohesin, a protein that mediates chromosome pairing during meiosis. Premature ovarian failure, the end point of primary ovarian insufficiency, affects approximately 1% of women worldwide. Patients with premature ovarian failure present with at least a 6-month history of amenorrhea and elevated plasma levels of follicle-stimulating hormone (>40 mIU per milliliter). The disorder can result from premature depletion of the follicle pool, follicular atresia, follicle growth arrest, or ovarian dysgenesis. Although a majority of cases are idiopathic, premature ovarian failure can be caused by infectious agents, chemotherapy, pelvic surgery, autoimmune disease, environmental factors, or genetic conditions. 1 The disorder is observed in syndromic diseases — for example, Turner's syndrome and BPES . . .
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PMCID: PMC4068824
ISSN:0028-4793
1533-4406
1533-4406
DOI:10.1056/NEJMoa1309635