Functional promoter polymorphism in SREBP cleavage-activating protein (SCAP).
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.
Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute 406-100 Perth Drive, London, ON, N6A 5K8, Canada.
Henian
H
Cao
Brooke A
BA
Miskie
Robert A
RA
Hegele
D016475:3T3 Cells; D000818:Animals; D008076:Cholesterol, HDL / Q000378:metabolism; D008078:Cholesterol, LDL / Q000378:metabolism; D017931:DNA Primers / Q000737:chemistry; D005091:Exons; D005838:Genotype; D006801:Humans; D006949:Hyperlipidemias / Q000235:genetics*; D047908:Intracellular Signaling Peptides and Proteins; D008156:Luciferases / Q000378:metabolism; D008565:Membrane Proteins / Q000235:genetics*; D051379:Mice; D010957:Plasmids; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic; D014162:Transfection; D014280:Triglycerides / Q000378:metabolism; D001616:beta-Galactosidase / Q000378:metabolism
D008076:Cholesterol, HDL; D008078:Cholesterol, LDL; D017931:DNA Primers; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C102196:SREBP cleavage-activating protein; D014280:Triglycerides; D008156:Luciferases; D001616:beta-Galactosidase