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Tytuł:
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Genetic variation in the GDNF promoter affects its expression and modifies the severity of Hirschsprung's disease (HSCR) in rats carrying Ednrb(sl) mutations.
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Autorzy:
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Huang J; College of Life Sciences, Northwest A&F University, Yangling, Shaanxi, China; College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China.
Dang R; College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China. Electronic address: .
Torigoe D; Laboratory of Laboratory Animal Science and Medicine, Department of Disease Control, Graduate School of Veterinary Medicine, Hokkaido University, Hokkaido, Japan; Division of Microbiology and Genetics, Center for Animal Resources and Development, Kumamoto, Japan.
Li A; College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China.
Lei C; College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China. Electronic address: .
Sasaki N; Laboratory of Laboratory Animal Science and Medicine, School of Veterinary Medicine, Kitasato University, Aomori, Japan.
Wang J; Laboratory of Laboratory Animal Science and Medicine, Department of Disease Control, Graduate School of Veterinary Medicine, Hokkaido University, Hokkaido, Japan.
Agui T; Laboratory of Laboratory Animal Science and Medicine, Department of Disease Control, Graduate School of Veterinary Medicine, Hokkaido University, Hokkaido, Japan.
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Źródło:
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Gene [Gene] 2016 Jan 01; Vol. 575 (1), pp. 144-8. Date of Electronic Publication: 2015 Aug 28.
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Typ publikacji:
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Journal Article; Research Support, Non-U.S. Gov't
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Język:
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English
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Imprint Name(s):
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Original Publication: Amsterdam, Elsevier/North-Holland, 1976-
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MeSH Terms:
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Gene Expression Regulation*
Glial Cell Line-Derived Neurotrophic Factor*/biosynthesis
Glial Cell Line-Derived Neurotrophic Factor*/genetics
Hirschsprung Disease*/genetics
Hirschsprung Disease*/metabolism
Hirschsprung Disease*/pathology
Mutation*
Response Elements*
Receptor, Endothelin B/*genetics
Animals ; Cell Line, Tumor ; Chromosomes, Mammalian/genetics ; Chromosomes, Mammalian/metabolism ; Rats ; Rats, Mutant Strains ; Receptor, Endothelin B/metabolism
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Contributed Indexing:
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Keywords: Dual-luciferase assay; Gdnf; Genetic variation; HSCR; Promoter
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Substance Nomenclature:
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0 (Glial Cell Line-Derived Neurotrophic Factor)
0 (Receptor, Endothelin B)
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Entry Date(s):
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Date Created: 20150831 Date Completed: 20160225 Latest Revision: 20151120
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Update Code:
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20240104
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DOI:
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10.1016/j.gene.2015.08.051
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PMID:
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26318480
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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.
(Copyright © 2015 Elsevier B.V. All rights reserved.)
