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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
1997-10-30
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pubmed:abstractText |
Recent studies have shown that mutations in the transcription factor hepatocyte nuclear factor (HNF)-1 alpha are the cause of one form of maturity-onset diabetes of the young (MODY3). These studies have identified mutations in the mRNA and protein coding regions of this gene that result in the synthesis of an abnormal mRNA or protein. Here, we report an Italian family in which an A-->C substitution at nucleotide-58 of the promoter region of the HNF-1 alpha gene cosegregates with MODY. This mutation is located in a highly conserved region of the promoter and disrupts the binding site for the transcription factor HNF-4 alpha, mutations in the gene encoding HNF-4 alpha being another cause of MODY (MODY1). This result demonstrates that decreased levels of HNF-1 alpha per se can cause MODY. Moreover, it indicates that both the promoter and coding regions of the HNF-1 alpha gene should be screened for mutations in subjects thought to have MODY because of mutations in this gene.
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pubmed:grant |
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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 |
http://linkedlifedata.com/resource/pubmed/chemical/Basic Helix-Loop-Helix Leucine...,
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/HNF4A 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/Hepatocyte Nuclear Factor 4,
http://linkedlifedata.com/resource/pubmed/chemical/MLX protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Nuclear Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Phosphoproteins,
http://linkedlifedata.com/resource/pubmed/chemical/Transcription Factors
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0012-1797
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
46
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1648-51
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:9313764-Animals,
pubmed-meshheading:9313764-Base Sequence,
pubmed-meshheading:9313764-Basic Helix-Loop-Helix Leucine Zipper Transcription Factors,
pubmed-meshheading:9313764-Binding Sites,
pubmed-meshheading:9313764-DNA,
pubmed-meshheading:9313764-DNA Mutational Analysis,
pubmed-meshheading:9313764-DNA-Binding Proteins,
pubmed-meshheading:9313764-Diabetes Mellitus, Type 2,
pubmed-meshheading:9313764-Female,
pubmed-meshheading:9313764-Genetic Linkage,
pubmed-meshheading:9313764-Hepatocyte Nuclear Factor 1,
pubmed-meshheading:9313764-Hepatocyte Nuclear Factor 1-alpha,
pubmed-meshheading:9313764-Hepatocyte Nuclear Factor 1-beta,
pubmed-meshheading:9313764-Hepatocyte Nuclear Factor 4,
pubmed-meshheading:9313764-Humans,
pubmed-meshheading:9313764-Italy,
pubmed-meshheading:9313764-Male,
pubmed-meshheading:9313764-Molecular Sequence Data,
pubmed-meshheading:9313764-Mutation,
pubmed-meshheading:9313764-Nuclear Proteins,
pubmed-meshheading:9313764-Pedigree,
pubmed-meshheading:9313764-Phosphoproteins,
pubmed-meshheading:9313764-Polymerase Chain Reaction,
pubmed-meshheading:9313764-Promoter Regions, Genetic,
pubmed-meshheading:9313764-Sequence Alignment,
pubmed-meshheading:9313764-Transcription Factors
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pubmed:year |
1997
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pubmed:articleTitle |
Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4 alpha binding site in the promoter of the hepatocyte nuclear factor-1 alpha gene.
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pubmed:affiliation |
Howard Hughes Medical Institute, University of Chicago, Illinois, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't
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