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rdf:type |
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lifeskim:mentions |
umls-concept:C0020792,
umls-concept:C0028630,
umls-concept:C0030705,
umls-concept:C0033413,
umls-concept:C0205314,
umls-concept:C0205419,
umls-concept:C0205453,
umls-concept:C0227525,
umls-concept:C0342276,
umls-concept:C0521447,
umls-concept:C0679622,
umls-concept:C1420631
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pubmed:issue |
2
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pubmed:dateCreated |
2000-2-24
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pubmed:abstractText |
Maturity onset diabetes of the young (MODY) is a heterogeneous subtype of type II diabetes mellitus. To date, five MODY genes have been identified. Mutations in the hepatocyte nuclear factor-1alpha (HNF-1alpha) gene are associated with MODY3. In the present work, we implemented the HNF-1alpha promoter region in the screening of MODY-suspect patients and identified seven variants not detected in control subjects. The family was available for the -119delG variant, and segregration between MODY and the variant is observed. Most of these variants are located in highly conserved regions and may alter HNF-1alpha expression through binding alteration of nuclear factors or other mechanisms. We demonstrate by functional studies that the transcriptional activity of the -283A>C and -218T>C variant promoters were 30% and 70% of the wild type activity, respectively. These data suggest that HNF-1alpha promoter variants could be diabetogenic mutations, and emphasize that the accurate HNF-1alpha expression is important for the maintenance of normal pancreatic beta cell function.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/5' Untranslated Regions,
http://linkedlifedata.com/resource/pubmed/chemical/DNA,
http://linkedlifedata.com/resource/pubmed/chemical/DNA-Binding Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/HNF1A protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/HNF1B protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Hepatocyte Nuclear Factor 1,
http://linkedlifedata.com/resource/pubmed/chemical/Hepatocyte Nuclear Factor 1-alpha,
http://linkedlifedata.com/resource/pubmed/chemical/Hepatocyte Nuclear Factor 1-beta,
http://linkedlifedata.com/resource/pubmed/chemical/Nuclear Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Nucleotides,
http://linkedlifedata.com/resource/pubmed/chemical/Transcription Factors
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pubmed:status |
MEDLINE
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pubmed:issn |
1059-7794
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2000 Wiley-Liss, Inc.
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pubmed:issnType |
Print
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pubmed:volume |
15
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
173-80
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:10649494-5' Untranslated Regions,
pubmed-meshheading:10649494-Adult,
pubmed-meshheading:10649494-Age of Onset,
pubmed-meshheading:10649494-Amino Acid Sequence,
pubmed-meshheading:10649494-Base Sequence,
pubmed-meshheading:10649494-Cell Line,
pubmed-meshheading:10649494-Child, Preschool,
pubmed-meshheading:10649494-Consensus Sequence,
pubmed-meshheading:10649494-DNA,
pubmed-meshheading:10649494-DNA-Binding Proteins,
pubmed-meshheading:10649494-Diabetes Mellitus, Type 2,
pubmed-meshheading:10649494-Female,
pubmed-meshheading:10649494-Gene Expression Regulation,
pubmed-meshheading:10649494-Genetic Variation,
pubmed-meshheading:10649494-Hepatocyte Nuclear Factor 1,
pubmed-meshheading:10649494-Hepatocyte Nuclear Factor 1-alpha,
pubmed-meshheading:10649494-Hepatocyte Nuclear Factor 1-beta,
pubmed-meshheading:10649494-Humans,
pubmed-meshheading:10649494-Male,
pubmed-meshheading:10649494-Nuclear Proteins,
pubmed-meshheading:10649494-Nucleotides,
pubmed-meshheading:10649494-Pedigree,
pubmed-meshheading:10649494-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:10649494-Promoter Regions, Genetic,
pubmed-meshheading:10649494-Response Elements,
pubmed-meshheading:10649494-Transcription Factors
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pubmed:year |
2000
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pubmed:articleTitle |
Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1alpha (TCF1) promoter region in MODY patients.
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pubmed:affiliation |
Institut de Biologie de Lille, Lille, France.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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