論文

査読有り
2016年1月

Genetic variation in the GDNF promoter affects its expression and modifies the severity of Hirschsprung's disease (HSCR) in rats carrying Ednrb(sl) mutations

GENE
  • Jieping Huang
  • ,
  • Ruihua Dang
  • ,
  • Daisuke Torigoe
  • ,
  • Anqi Li
  • ,
  • Chuzhao Lei
  • ,
  • Nobuya Sasaki
  • ,
  • Jinxi Wang
  • ,
  • Takashi Agui

575
1
開始ページ
144
終了ページ
148
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1016/j.gene.2015.08.051
出版者・発行元
ELSEVIER SCIENCE BV

Glial cell line-derived neurotrophic factor (GDNF) is necessary for the migration of neural crest stem cells in the gut However, mutations in GDNF per se are deemed neither necessary nor sufficient to cause Hirschsprung's disease (HSCR). In a previous study, a modifier locus on chromosome 2 in rats carrying Ednrb(sl) mutations was identified, and several mutations in the putative regulatory region of the Gdnf gene in AGH-Ednrb(sl) rats were detected. Specifically, the mutation -232C>T has been shown to be strongly associated with the severity of HSCR. In the present study, the influence of genetic variations on the transcription of the Gdnf gene was tested using dual-luciferase assay. Results showed that the mutation -613C>T, located near the mutation -232C>T in AGH-Ednrb(sl) rats, decreased Gdnf transcription in an in vitro dual-luciferase expression assay. These data suggested an important role of -613C in Gdnf transcription. Expression levels of the Gdnf gene may modify the severity of HSCR in rats carrying Ednrb(sl) mutations. (C) 2015 Elsevier B.V. All rights reserved.

Web of Science ® 被引用回数 : 5

リンク情報
DOI
https://doi.org/10.1016/j.gene.2015.08.051
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/26318480
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000366226900018&DestApp=WOS_CPL
ID情報
  • DOI : 10.1016/j.gene.2015.08.051
  • ISSN : 0378-1119
  • eISSN : 1879-0038
  • PubMed ID : 26318480
  • Web of Science ID : WOS:000366226900018

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