Apolipoprotein C-II promoter T-->A substitution at position -190 affects on the transcription of the gene and its relationship to hyperlipemia.
A Chinese patient with severe hypertriglyceridemia was found to have similar clinical features to that of malignant hyperlipemia in infancy. DNA sequence analysis of the apoC-II gene from the patient's parents revealed a novel heterozygous mutation of T-->A substitution at position -190 base in the apoC-II promoter. We speculated that the patient was a homozygote of the same mutation that resulted in the deficiency of apoC-II. In vitro expression studies showed T-->A substitution in the apoC-II promoter leads to a decrease by approximately 20% in transcriptional activity compared with its counterpart that inserted the normal promoter. These results suggested that T-->A substitution at position -190 in the apoC-II gene promoter only partly affected transcriptional activity of the apoC-II promoter, leading to decrease of apoC-II expression in quantity.
Chen
Chun-Hua
CH
Department of Immunology, School of Medicine, Shandong University, 44 Wenhuaxi Road, Jinan 250012, PR China.
Cao
Ying-Lin
YL
Hu
Wei-Cheng
WC
D019943:Amino Acid Substitution; D053304:Apolipoprotein C-II / Q000235:genetics*; D006528:Carcinoma, Hepatocellular / Q000150:complications; D045744:Cell Line, Tumor; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D015228:Hypertriglyceridemia / Q000235:genetics*; D007231:Infant, Newborn; D008113:Liver Neoplasms / Q000150:complications; D008297:Male; D016297:Mutagenesis, Site-Directed; D009154:Mutation; D011401:Promoter Regions, Genetic / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D014158:Transcription, Genetic / Q000235:genetics*
D053304:Apolipoprotein C-II; D014157:Transcription Factors