title: New candidate gene POU5F1 associated with premature ovarian failure in Chinese patients.
abstract: Premature ovarian failure (POF) is defined as a cessation of ovarian function in women before the age of 40 years. POU5F1 has a critical role in regulating pluripotency in embryonic development and POU5F1 transcription factor is down-regulated more than 30-fold in the POF candidate gene Nobox knockout ovaries. In order to identify the potential correlation between POU5F1 and the development of POF, the exon regions of POU5F1 were amplified and sequenced in 115 POF patients and 149 healthy controls. One non-synonymous variant of POU5F1 (c. C37A, p. Pro13Thr) was identified and confirmed in one of the POF patients. The substitution replacing a hydrophobic amino acid, proline, with a hydrophilic amino acid, threonine. As far as is known, the present study is the first to identify a potential association between POU5F1 and the development of POF.
authors.affiliation: Reproductive Medicine Center, The First Affiliated Hospital, Anhui Medical University, Hefei, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.forename: Binbin
authors.initials: B
authors.lastname: Wang
authors.forename: Junjie
authors.initials: J
authors.lastname: Song
authors.forename: Peisu
authors.initials: P
authors.lastname: Suo
authors.forename: Feng
authors.initials: F
authors.lastname: Ni
authors.forename: Beili
authors.initials: B
authors.lastname: Chen
authors.forename: Xu
authors.initials: X
authors.lastname: Ma
authors.forename: Yunxia
authors.initials: Y
authors.lastname: Cao
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D050814:Octamer Transcription Factor-3 / Q000235:genetics*; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D050814:Octamer Transcription Factor-3; C494173:POU5F1 protein, human