Avtor/Urednik     Eminović, Izet; Liović, Mirjana; Preželj, Janez; Kocijančič, Andreja; Rozman, Damijana; Komel, Radovan
Naslov     New steroid 5alpha-reductase type I (SRD5A1) homologous sequences on human chromosomes 6 and 8
Tip     članek
Vir     Pflugers Arch
Vol. in št.     Letnik 442, št. 6 Suppl 1
Leto izdaje     2001
Obseg     str. R187-9
Jezik     eng
Abstrakt     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 SRD5A 1 gene fragments (out of genomic DNA), made us assume that, in addition to the known SRD5Al gene, one or more different human Sareductase type I coding genes may exist. Our research provide the first evidence for the existence of two new SRD5AI related, previously unidentified sequences in the human genome. These sequences which were localized to chromosomes 6 and 8 are highly homologous (> 99%) to SRD5AI, 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 SRD5AI genes, and/or of previously unidentified pseudogenes. These findings additionally support data of Chen et al. who confirmed the existence of various SRD5AI proteins in cultured human skin cells.
Deskriptorji     HYPERANDROGENISM
ANDROGENS
TESTOSTERONE
ANDROSTENEDIONE
DEHYDROEPIANDROSTERONE SULFATE
POLYMORPHISM (GENETICS)
CHROMOSOMES, HUMAN, PAIR 6
CHROMOSOMES, HUMAN, PAIR 8