NDLI: –13915*G DNA polymorphism associated with lactase persistence in Africa interacts with Oct-1

Content Provider	PubMed Central
Author	Olds, Lynne C. Ahn, Jong Kun Sibley, Eric
Copyright Year	2010
Abstract	Lactase gene expression declines with aging (lactase non-persistence) in the majority of humans world-wide. Lactase persistence is a heritable autosomal dominant condition and has been strongly correlated with several single nucleotide polymorphisms (SNPs) located ~14-kb upstream (–13907, –13910 and –3915) of the lactase gene in different ethnic populations. In contrast to the –13907G and –13910T SNPs, the –13915G SNP was previously believed not to interact with Oct-1. In the present study, however, Oct-1 is shown to interact with the –13915G SNP region DNA sequence by EMSAs and gel supershift. In addition, Oct-1 is capable of enhancing promoter activity of a lactase promoter–reporter construct harboring the 13915*G SNP sequence in cell culture. Oct-1 binding to the –13907 to –13915 SNP region therefore remains a candidate interaction involved in lactase persistence.
Related Links	http://dx.doi.org/10.1007/s00439-010-0898-0
Starting Page	111
File Format	PDF
ISSN	14321203
e-ISSN	14321203
Journal	Human genetics
Issue Number	1
Volume Number	129
Language	English
Publisher Date	2011-01-01
Access Restriction	Open
Subject Keyword	Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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–13915*G DNA polymorphism associated with lactase persistence in Africa interacts with Oct-1