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- Title
Functional promoter polymorphism in SREBP cleavage-activating protein (SCAP).
- Authors
Cao, H.; Miskie, B. A.; Hegele, R. A.
- Abstract
We report the identification of a loss-of-function -11C>T promoter mutation in the gene encoding the sterol regulatory element binding protein cleavage-activating protein (SCAP). The -11T allele was associated with a marked reduction in promoter activity in a luciferase-based expression system. We also report additional common single-nucleotide polymorphisms in the SCAP promoter and coding sequence that were identified by using direct sequencing to screen the genomic DNA of subjects with combined hyperlipidemia. These markers might be useful for studies of association with metabolic phenotypes.
- Subjects
STEROID-binding proteins; GENETIC polymorphisms; LIPID metabolism
- Publication
Journal of Human Genetics, 2002, Vol 47, Issue 9, p492
- ISSN
1434-5161
- Publication type
Article
- DOI
10.1007/s100380200072