Document Detail


A single nucleotide polymorphism in the first intron of the human IFN-gamma gene: absolute correlation with a polymorphic CA microsatellite marker of high IFN-gamma production.
MedLine Citation:
PMID:  11053629     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We have described previously a variable length CA repeat sequence in the first intron of the human IFN-gamma gene and showed that allele #2 is associated with high in vitro IFN-gamma production. In a consecutive study, allele #2 was found to be associated with allograft fibrosis in lung transplant patients, confirming its role as a marker of high IFN-gamma production, both in vivo and in vitro. In this study we have sequenced 50 PCR products that had been typed previously by PAGE for the identification of CA microsatellite alleles. We report on a novel single nucleotide polymorphism, T to A, at the 5' end of the CA repeat region in the first intron of the human IFN-gamma gene (+874*T/A). There is an absolute correlation between the presence of T allele and the presence of the high-producing microsatellite allele #2. This T to A polymorphism coincides with a putative NF-kappa B binding site which might have functional consequences for the transcription of the human IFN-gamma gene. Therefore, the T to A polymorphism could directly influence the level of IFN-gamma production associated with the CA microsatellite marker.
Authors:
V Pravica; C Perrey; A Stevens; J H Lee; I V Hutchinson
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Human immunology     Volume:  61     ISSN:  0198-8859     ISO Abbreviation:  Hum. Immunol.     Publication Date:  2000 Sep 
Date Detail:
Created Date:  2000-11-28     Completed Date:  2000-11-28     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  8010936     Medline TA:  Hum Immunol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  863-6     Citation Subset:  IM    
Affiliation:
School of Biological Sciences, University of Manchester, Manchester, United Kingdom. vpravica@man.ac.uk
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MeSH Terms
Descriptor/Qualifier:
Hela Cells
Humans
Interferon-gamma / biosynthesis,  genetics*
Introns*
Microsatellite Repeats
Polymorphism, Single Nucleotide*
Chemical
Reg. No./Substance:
82115-62-6/Interferon-gamma

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