Gene mapping study reveals the eight-exon structure and chromosomal localization of apolipoprotein H on chromosome 17q23-24, highlighting mechanisms regulating liver-specific transcription.
The gene encoding the human plasma protein beta2-glycoprotein I or apolipoprotein H was cloned and its structure determined. The gene which consists of eight exons was shown to span 18 kb and was localized to chromosome 17q23-24. The transcriptional initiation site was assigned to a position 31 bp upstream of the start codon. Several consensus sequence elements relevant for regulation of transcription in liver were seen in the 5'-upstream region of the gene. Exon 1 contains the 5'-UTR together with the signal peptide coding sequences. Short consensus repeats (SCRs) 1, 3, 4, and 5 are encoded by single exons each while SCR2 is encoded by two exons. Exon 8 comprises the region encoding the C-terminal end of beta2-glycoprotein I (from His-310), the stop codon and the 3'-UTR.
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Okkels et al. (1999) studied this question.
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