NDLI: Regulation of the Human MSH6 Gene by the Sp1 Transcription Factor and Alteration of Promoter Activity and Expression by Polymorphisms

Content Provider	PubMed Central
Author	Gazzoli, Isabella Kolodner, Richard D.
Copyright Year	2003
Abstract	Defects in human DNA mismatch repair have been reported to underlie a variety of hereditary and sporadic cancer cases. We characterized the structure of the MSH6 promoter region to examine the mechanisms of transcriptional regulation of the MSH6 gene. The 5′-flanking region of the MSH6 gene was found to contain seven functional Sp1 transcription factor binding sites that each bind Sp1 and Sp3 and contribute to promoter activity. Transcription did not appear to require a TATA box and resulted in multiple start sites, including two major start sites and at least nine minor start sites. Three common polymorphisms were identified in the promoter region (−557 T→G, −448 G→A, and −159 C→T): the latter two were always associated, and each of these functionally inactivated a different Sp1 site. The polymorphic allele −448 A −159 T was demonstrated to be a common Caucasian polymorphism found in 16% of Caucasians and resulted in a five-Sp1-site promoter that had 50% less promoter activity and was more sensitive to inactivation by DNA methylation than the more common seven Sp1 site promoter allele, which was only partially inactivated by DNA methylation. In cell lines, this five-Sp1-site polymorphism resulted in reduced MSH6 expression at both the mRNA and protein level. An additional 2% of Caucasians contained another polymorphism, −210 C→T, which inactivated a single Sp1 site that also contributes to promoter activity.
Related Links	http://dx.doi.org/10.1128/mcb.23.22.7992-8007.2003
Ending Page	8007
Page Count	16
Starting Page	7992
File Format	PDF
ISSN	02707306
e-ISSN	10985549
Journal	Molecular and Cellular Biology
Issue Number	22
Volume Number	23
Language	English
Publisher	American Society for Microbiology
Publisher Date	2003-11-15
Access Restriction	Open
Rights Holder	American Society for Microbiology
Subject Keyword	Cell Biology Molecular Biology Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Cell Biology Molecular Biology

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