TY - JOUR
T1 - Characterization and chromosomal mapping of a human steroid 5α-reductase gene and pseudogene and mapping of the mouse homologue
AU - Jenkins, Elizabeth P.
AU - Hsieh, Chih Lin
AU - Milatovich, Athena
AU - Normington, Karl
AU - Berman, David M.
AU - Francke, Uta
AU - Russell, David W.
N1 - Funding Information:
We thank Jeffry Cormier, Daphne Davis, Kathy Schueler, and Edith Womack for excellent technical assistance; Carla Leffert and Helen Hobbs for DNA samples; and Mike Brown, Joe Goldstein, and Jean Wilson for critical reading of the manuscript. This research was supported by Grants GM-43753 (to D.W.R.) and HG-00298 (to U.F.) from the National Institutes of Health and by the Howard Hughes Medical Institute of which U.F. is an investigator and C-L.H. was an associate. E.P.J. is supported by a training grant (DK-07307) from the National Institutes of Health. K.N. is the recipient of Postdoctoral Fellowship HD 07411 from the National Institutes of Health. D.M.B. is supported by the Perot Family Foundation and Medical Scientist Training Grant GM08014 from the National Institutes of Health.
PY - 1991/12
Y1 - 1991/12
N2 - The enzyme steroid 5α-reductase catalyzes the conversion of testosterone into the more powerful androgen, dihydrotestosterone. We previously described the cloning of rat and human cDNAs that encode steroid 5α-reductase and their expression in oocytes and cultured cells. Here, we report the isolation, characterization, and chromosomal mapping of two human steroid 5α-reductase genes. One gene (symbol SRD5A1) is functional, contains five exons separated by four introns, and maps to the distal short arm of chromosome 5. Two informative restriction fragment length polymorphisms are present in exons 1 and 2 of this gene. A second gene (symbol SRD5AP1) has all of the hall-marks of a processed pseudogene and was mapped to the q24-qter region of the X chromosome. In the mouse, a single steroid 5α-reductase gene (Srd5α-1) is linked to Xmv-13 on chromosome 13.
AB - The enzyme steroid 5α-reductase catalyzes the conversion of testosterone into the more powerful androgen, dihydrotestosterone. We previously described the cloning of rat and human cDNAs that encode steroid 5α-reductase and their expression in oocytes and cultured cells. Here, we report the isolation, characterization, and chromosomal mapping of two human steroid 5α-reductase genes. One gene (symbol SRD5A1) is functional, contains five exons separated by four introns, and maps to the distal short arm of chromosome 5. Two informative restriction fragment length polymorphisms are present in exons 1 and 2 of this gene. A second gene (symbol SRD5AP1) has all of the hall-marks of a processed pseudogene and was mapped to the q24-qter region of the X chromosome. In the mouse, a single steroid 5α-reductase gene (Srd5α-1) is linked to Xmv-13 on chromosome 13.
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U2 - 10.1016/0888-7543(91)90038-G
DO - 10.1016/0888-7543(91)90038-G
M3 - Article
C2 - 1686016
AN - SCOPUS:0026326528
SN - 0888-7543
VL - 11
SP - 1102
EP - 1112
JO - Genomics
JF - Genomics
IS - 4
ER -