Faculty Research 1990 - 1999


The genes encoding gonadal and nongonadal forms of 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase are closely linked on mouse chromosome 3.

Document Type


Publication Date



Base-Sequence, Chromosome-Mapping, Chromosomes-Human-Pair-1, Conserved-Sequence, Crosses-Genetic, DNA: ge, DNA-Probes, Female, Genes-Reiterated, Gonads: en, Human, Isoenzymes: ge, Linkage-(Genetics), Male, Mice: ge, Molecular-Sequence-Data, Multienzyme-Complexes: ge, Polymerase-Chain-Reaction, Progesterone-Reductase: ge, Species-Specificity, Steroid-Isomerases: ge, SUPPORT-U-S-GOVT-P-H-S

JAX Source

Genomics 1993 Apr;16(1):219-23


HD17916/HD/NICHD, HD08358/HD/NICHD, CA33093/CA/NCI


The biosynthesis of steroid hormones in the gonads and adrenal glands requires the activities of the enzyme 3 beta-hydroxysteroid dehydrogenase/isomerase (3 beta HSD) which catalyzes the NAD(+)-dependent dehydrogenation and subsequent delta 5-->delta 4 isomerization of delta 5-3 beta-hydroxysteroids to delta 4-3-ketosteroids. The mouse expresses four isoforms of 3 beta HSD. 3 beta HSD I is expressed in gonads and adrenal glands and appears to be the major steroidogenic form, 3 beta HSDs II and III are expressed in both liver and kidneys, and 3 beta HSD IV has been detected only in kidneys. To determine the genetic relationship between the 3 beta HSD isoforms, we have mapped the chromosomal locations of the four genes by linkage analysis using gene-specific probes derived from the 3' untranslated regions of 3 beta HSD cDNA clones. The four 3 beta HSD structural genes (Hsd3b) are closely linked within a segment of chromosome 3 that is conserved on human chromosome 1. The order of markers on Chr 3 surrounding Hsd3b is: centromere-Gba-(4.4 +/- 2.2)-Hsd3b-(3.3 +/- 1.9)-Tshb-(6.7 +/- 2.7)-Amy-1.