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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2011-1-31
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pubmed:abstractText |
Two noncoding variations in RET-the T allele of the single nucleotide polymorphism (SNP) rs2435357 (Enh1:C>T) and the A allele of the SNP rs2506004 (Enh2:C>A)-are associated with Hirschsprung's disease. These SNPs are in strong linkage disequilibrium and located in an enhancer element in intron 1 of the RET gene. The T allele of the Enh1 variant results in reduced expression of RET, compared with the C allele, because the T allele disrupts binding to the transcription factor SOX10. We studied whether the A allele of Enh2 (Enh2-A) also affects RET gene expression.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1528-0012
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pubmed:author |
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pubmed:copyrightInfo |
Copyright © 2011 AGA Institute. Published by Elsevier Inc. All rights reserved.
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pubmed:issnType |
Electronic
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pubmed:volume |
140
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
572-582.e2
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pubmed:meshHeading |
pubmed-meshheading:20977903-Animals,
pubmed-meshheading:20977903-Base Sequence,
pubmed-meshheading:20977903-Cells, Cultured,
pubmed-meshheading:20977903-Exons,
pubmed-meshheading:20977903-Gene Expression,
pubmed-meshheading:20977903-Genetic Variation,
pubmed-meshheading:20977903-Haplotypes,
pubmed-meshheading:20977903-Hirschsprung Disease,
pubmed-meshheading:20977903-Humans,
pubmed-meshheading:20977903-Introns,
pubmed-meshheading:20977903-Linkage Disequilibrium,
pubmed-meshheading:20977903-Mice,
pubmed-meshheading:20977903-Mice, Inbred C57BL,
pubmed-meshheading:20977903-Molecular Sequence Data,
pubmed-meshheading:20977903-Neural Stem Cells,
pubmed-meshheading:20977903-Polymorphism, Single Nucleotide,
pubmed-meshheading:20977903-Promoter Regions, Genetic,
pubmed-meshheading:20977903-Protein Binding,
pubmed-meshheading:20977903-Proto-Oncogene Proteins c-ret,
pubmed-meshheading:20977903-Transcription Factors
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pubmed:year |
2011
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pubmed:articleTitle |
Variants in RET associated with Hirschsprung's disease affect binding of transcription factors and gene expression.
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pubmed:affiliation |
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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