title: New steroid 5alpha-reductase type I (SRD5A1) homologous sequences on human chromosomes 6 and 8.
abstract: To date, two genes encoding 5alpha-reductase isoenzymes are known (type I, type II), and one type I pseudogene. The divergent localization of these genes and the still not fully understood function of the encoded enzymes as well as the perplexing results we obtained after sequencing PCR-amplified SRD5A1 gene fragments (out of genomic DNA), made us assume that, in addition to the known SRD5A1 gene, one or more different human 5alpha-reductase type I coding genes may exist. Our research provide the first evidence for the existence of two new SRD5A1 related, previously unidentified sequences in the human genome. These sequences which were localized to chromosomes 6 and 8 are highly homologous (> 99%) to SRD5A1, and also do not contain any deletions or insertions that are otherwise a characteristic of the SRD5API pseudogene. Our results imply that these sequences may be either coding parts of yet unknown, active SRD5A1 genes, and/or of previously unidentified pseudogenes. These findings additionally support data of Chen et al. who confirmed the existence of various SRD5A1 proteins in cultured human skin cells.
authors.affiliation: Medical Center for Molecular Biology, Institute of Biochemistry, Medical Faculty, University of Ljubljana, Slovenia.
authors.forename: I
authors.initials: I
authors.lastname: Eminović
authors.forename: M
authors.initials: M
authors.lastname: Liović
authors.forename: J
authors.initials: J
authors.lastname: Prezelj
authors.forename: A
authors.initials: A
authors.lastname: Kocijancic
authors.forename: D
authors.initials: D
authors.lastname: Rozman
authors.forename: R
authors.initials: R
authors.lastname: Komel
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000235:genetics*; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D002898:Chromosomes, Human, Pair 8; D005091:Exons; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics; D011544:Pseudogenes; D012689:Sequence Homology, Nucleic Acid
chemical_list: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase