Structure of Human Type II 5 Alpha-Reductase Gene

    September 1992 in “ Endocrinology ”
    Fernand Labrie, Yasuro Sugimoto, Van Luu‐The, Jacques Simard, Yves Lachance, Dimcho Bachvarov, Gilles Leblanc, Francine Durocher, Nathalie Paquet
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    TLDR The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
    The document detailed the isolation and characterization of the human type II 5α-reductase gene, which is linked to male pseudohermaphroditism and androgen-related diseases like prostate cancer and benign prostatic hyperplasia. The gene was found to have five exons and four introns, with exon sizes ranging from 102 to 1695 base pairs and intron sizes exceeding 2.0 kilobases. There was a 43.8% to 64.1% homology between the exons of this gene and those of the type I gene. A transcription start site was located 71 nucleotides before the ATG initiating codon, and the coding region's nucleotide sequence was consistent with previously obtained cDNA sequences, barring a single nucleotide discrepancy. Southern blot analysis confirmed the gene's structure and indicated low homology with other 5α-reductase-related genes. This research enhances the understanding of the genetic basis of 5α-reductase deficiency and could help in developing treatments for related conditions. The study also contributes to the knowledge of the regulation of the type II 5 alpha-reductase gene and the control of dihydrotestosterone (DHT) formation in androgen target tissues.
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