Structure and nucleotide sequences of the human cholesterol 7 alpha-hydroxylase gene (CYP7).

The human cholesterol 7 alpha-hydroxylase gene (CYP7) spans about 11 kb of the genome and contains six exons and five introns. Nucleotide sequences of a 5'-upstream region to exon III (5535 bp), a 5'-upstream EcoRI fragment (2575 bp), and an EcoRI fragment covering intron V to exon VI (2319 bp) have been determined. A comparison of our sequences with those reported previously unveiled numerous sequencing discrepancies that are apparently due to sequencing errors. There are only one confirmed and one possible genetic polymorphism in the promoter of this highly conserved human gene. The proximal promoter contained many consensus 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 hormones.