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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Vydáno v:	The New England journal of medicine Ročník 370; číslo 10; s. 943 - 949
Hlavní autoři:	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
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Waltham, MA Massachusetts Medical Society 06.03.2014
Edice:	Brief Report
Témata:	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
On-line přístup:	Získat plný text
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Popis
Shrnutí:	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 . . .
Bibliografie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Case Study-2 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 PMCID: PMC4068824
ISSN:	0028-4793 1533-4406 1533-4406
DOI:	10.1056/NEJMoa1309635