STRUCTURE AND NUCLEOTIDE-SEQUENCES OF THE HUMAN CHOLESTEROL 7-ALPHA-HYDROXYLASE GENE (CYP7)

The human cholesterol 7alpha-hydroxylase gene (CYP7) spans about 11 kb of the genome and contains six exons and five introns. Nucleotide seq uences of a 5'-upstream region to exon III (5535 bp), a 5'-upstream Ec oRI fragment (2575 bp), and an EcoRI fragment covering intron V to exo n VI (2319 bp) have been determined. A comparison of our sequences wit h those reported previously unveiled numerous sequencing discrepancies that are apparently due to sequencing errors. There are only one conf irmed and one possible genetic polymorphism in the promoter of this hi ghly conserved human gene. The proximal promoter contained many consen sus recognition sequences for liver-enriched transcription factors and steroid hormone receptors that may play important roles in regulation of the CYP7 gene transcription by bile acids, cholesterol, and hormon es. (C) 1994 Academic Press, Inc.