New candidate gene POU5F1 associated with premature ovarian failure in Chinese patients

REPRODUCTIVE BIOMEDICINE ONLINE

卷:22

Article

Wang, Jing^1,2,3  Wang, Binbin^1,2,3  Song, Junjie⁴  Suo, Peisu^1,2  Ni, Feng²  Chen, Beili²  Ma, Xu^1,3,5  Cao, Yunxia² 

[1] Peking Union Med Coll, Grad Sch, Beijing 100021, Peoples R China

[2] Anhui Med Univ, Reprod Med Ctr, Affiliated Hosp 1, Hefei, Peoples R China

[3] Natl Res Inst Family Planning, Beijing 100081, Peoples R China

[4] China Agr Univ, Coll Biol Sci, Beijing 100193, Peoples R China

[5] WHO, Collaborating Ctr Res Human Reprod, Beijing, Peoples R China

关键词: mutation;    polymorphism;    POU class 5 homeobox 1;    premature ovarian failure;   

DOI  :  10.1016/j.rbmo.2010.11.008

来源: Elsevier

【 摘 要 】

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. (C) 2011, Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

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