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Linkage of human apolipoproteins A-I and C-III genes

Abstract

It has recently been suggested that polymorphisms in the human apolipoprotein A-I (apo A-I) gene locus may be related to the development of premature atherosclerosis1 and hypertriglyceridaemia2. To understand if and how these polymorphisms affect apo A-I gene expression, we studied the genomic sequences flanking the apo A-I gene. Here we show the presence of another apolipoprotein gene, apolipoprotein C-III (apo C-III), approximately 2.6 kilobases (kb) downstream of the 3′ end of the apo A-I gene. We also show that the apo A-I and apo C-III genes are convergently transcribed and that a polymorphism previously reported to be associated with hypertriglyceridaemia2 may be due to a single base pair substitution in the 3′-noncoding region of apo C-III mRNA.

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Karathanasis, S., McPherson, J., Zannis, V. et al. Linkage of human apolipoproteins A-I and C-III genes. Nature 304, 371–373 (1983). https://doi.org/10.1038/304371a0

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