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Keywords {🔍}

article, srda, type, αreductase, human, access, privacy, cookies, content, steroid, sequences, data, information, publish, research, search, homologous, chromosomes, genes, gene, log, journal, pflügers, eminović, liović, preželj, pseudogene, related, genome, open, discover, medical, ljubljana, springer, function, optional, analysis, personal, parties, policy, find, track, archiv, published, cite, izet, mirjana, janez, andreja, kocijančič,

Topics {✒️}

steroid 5α-reductase type human 5α-reductase type month download article/chapter related subjects human genome privacy choices/manage cookies full article pdf andreja kocijančič european economic area previously unidentified pseudogenes genotype-phenotype correlation conditions privacy policy janez preželj active srd5a1 genes srd5a1 related srd5a1 gene accepting optional cookies pages r187–r189 fully understood function previously unidentified sequences article eminović university medical centre main content log journal finder publish human chromosomes 6 research provide check access instant access highly homologous article log srd5ap1 pseudogene pflügers arch 442 homologous sequences personal data article cite type ii privacy policy information books a gene access optional cookies data protection manage preferences r187–r189 srd5a1 proteins coding genes medical faculty essential cookies cookies skip

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• 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation?

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         headline:New steroid 5α-reductase type I (SRD5A1) homologous sequences on human chromosomes 6 and 8
         description: To date, two genes encoding 5α-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 5α-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 SRD5AP1 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.
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      headline:New steroid 5α-reductase type I (SRD5A1) homologous sequences on human chromosomes 6 and 8
      description: To date, two genes encoding 5α-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 5α-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 SRD5AP1 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.
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