Genomic organization and DNA sequences of human 17β‐hydroxysteroid dehydrogenase genes and flanking regions: Localization of multiple Alu sequences and putative cis‐acting elements

Abstract

Genomic 17β‐hydroxysteroid‐dehydrogenase (17‐HSD) clones were isolated from a human leucocyte genomic library using cDNA encoding human placental 17‐HSD as a probe. The overlapping fragments spanned more than 21 kbp containing the duplications, 6.2 kbp of each, as well as 7 kbp upstream and 1.6 kbp downstream from the duplicated sequences. 17 complete and eight partial Alu elements were clustered in this area, covering about 30% of the region, including the borders of the duplications. Each duplication contained a 17‐HSD gene and a conserved region of 1.56 kbp with 98% intercopy similarity. The exon structure of the 17‐HSD gene II corresponded to the known cDNA species, but both genes contained a possible promoter region with TATA, GC and inverse CAAT boxes. The 5′ flanking regions contained sequences similar to the consensus sequences of cis‐acting elements, defined as regulators of 17‐HSD gene expression. These putative sequences included estrogen and progesterone/glucocorticoid‐response elements and a cyclic‐AMP regulatory element. Copyright © 1992, Wiley Blackwell. All rights reserved