STRUCTURE OF HUMAN TYPE-II 5-ALPHA-REDUCTASE GENE

被引:206
作者
LABRIE, F [1 ]
SUGIMOTO, Y [1 ]
LUUTHE, V [1 ]
SIMARD, J [1 ]
LACHANCE, Y [1 ]
BACHVAROV, D [1 ]
LEBLANC, G [1 ]
DUROCHER, F [1 ]
PAQUET, N [1 ]
机构
[1] UNIV LAVAL,QUEBEC CITY G1K 7P4,QUEBEC,CANADA
关键词
D O I
10.1210/en.131.3.1571
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
The best known activity of steroid 5-alpha-reductase is the transformation of testosterone into dihydrotestosterone, the most potent androgen. Two types of human steroid 5-alpha-reductase cDNAs and the type I gene have previously been isolated and characterized. This report describes the isolation and characterization of the human type II 5-alpha-reductase gene, the gene most likely responsible for male pseudohermaphroditism due to 5-alpha-reductase deficiency as well as the one presumed to be involved in major androgen-related diseases such as prostate cancer and benign prostatic hyperplasia. The type II 5-alpha-reductase gene contains five exons of 352, 164, 102, 151 and 1695 bp. respectively, which share 43.8% to 64.1% homology with exons of the corresponding type I gene. These exons are separated by four introns of > 29, and approximately 2.3, 2.0 and 3.0 kb. Analysis of primer extension products by polyacrylamide gel electrophoresis as well as by subcloning and sequencing reveals a start site located 71 nucleotides upstream the ATG initiating codon.
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页码:1571 / 1573
页数:3
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