Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 15, Issue 11, Pages 1186-1189Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/sj.ejhg.5201897
Keywords
familial hypercholesterolemia; LDLR gene; promoter mutation
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A novel sequence change in repeat 3 of the promoter of the low-density lipoprotein receptor (LDLR) gene, -139C4G, has been identified in a patient with familial hypercholesterolemia (FH). LDLR-139G has been passed to one offspring who also shows an FH phenotype. Transient transfection studies using luciferase gene reporter assays revealed a considerable reduction (74 +/- 71.4% SEM) in reporter gene expression from the -139G variant sequence compared to the wild-type sequence, strongly suggesting that this change is the basis for FH in these patients. Analysis using electrophoretic mobility shift assay demonstrated the loss of Sp1 binding to the variant sequence in vitro, explaining the reduction of transcription.
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