{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T17:54:09Z","timestamp":1789408449460,"version":"build-2803163510"},"reference-count":0,"publisher":"Bioscientifica","issue":"2","content-domain":{"domain":["journals.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[1995,10,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Four hirsute females from a family exhibiting idiopathic dominant hirsutism were examined. Basal blood levels of \u03945 and \u03944 steroids were within the normal range, but ACTH stimulation led to increases in 17-hydroxypregnenolone and dehydroepiandrosterone that were significantly above control levels. Using polymorphic genetic markers, the genes for cytochrome P450c17 encoded by CYP17, and the type I and II forms of 3\u03b2-hydroxysteroid dehydrogenase (3\u03b2-HSD) were found not to segregate with hirsutism in this family, though a base substitution was detected in the 3\u2032 end of exon 1 of the gene for 3\u03b2-HSD type I in three of the four patients investigated.<\/jats:p>\n                  <jats:p>Analysis of PCR amplification products by denaturing gradient gel electrophoresis (DGGE) and sequencing revealed a novel homologue of exon 3 of 3\u03b2-HSD. DNA of one of the affected patients was used to create a genomic library in \u03bb gem11 and clones containing the novel homologue were obtained and partially sequenced. The equivalent clone was obtained from a genomic library of an unrelated normal individual. The sequences of the clones from patient and control were identical and homologous to exons 2\u20134 of human 3\u03b2-HSD types I and II. No difference was found in the PCR primer sites that flanked the exon 3 homologue which led to its detection on DGGE gels. In both clones, stop codons and deletions were identified in the exon 4 homologue, leading to the deduction that the sequence comes from a pseudogene, which we call 3\u03b2-HSD \u03a81. The pseudogene mapped to chromosome 1p13. It was concluded that dominantly inherited idiopathic hirsutism in this rare kindred was not due to deficiencies in 3\u03b2-HSD types I, II, or \u03a8, or of CYP17.<\/jats:p>","DOI":"10.1677\/jme.0.0150167","type":"journal-article","created":{"date-parts":[[2008,12,15]],"date-time":"2008-12-15T14:53:29Z","timestamp":1229352809000},"page":"167-176","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-6","source":"Crossref","is-referenced-by-count":7,"title":["The human 3\u03b2-hydroxysteroid dehydrogenase (3\u03b2-HSD) gene cluster on chromosome 1p13 contains a presumptive pseudogene; 3\u03b2-HSD and CYP17 do not segregate with dominantly inherited hirsutism"],"prefix":"10.1530","volume":"15","author":[{"given":"M W","family":"McBride","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A J","family":"Russell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Vass","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Frank-Raue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N J","family":"Craig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Morrison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Boyd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Szpirer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R G","family":"Sutcliffe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","container-title":["Journal of Molecular Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/jme.bioscientifica.com\/view\/journals\/jme\/15\/2\/jme_15_2_006.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.bioscientifica.com\/jme\/article-pdf\/15\/2\/167\/46167\/jme_15_2_006.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/journals.bioscientifica.com\/jme\/article-pdf\/15\/2\/167\/46167\/jme_15_2_006.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T11:35:16Z","timestamp":1783510516000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.bioscientifica.com\/jme\/article\/15\/2\/167\/5967\/The-human-3-hydroxysteroid-dehydrogenase-3-HSD"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,10,1]]},"references-count":0,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1995,10,1]]}},"URL":"https:\/\/doi.org\/10.1677\/jme.0.0150167","relation":{},"ISSN":["1479-6813","0952-5041"],"issn-type":[{"value":"1479-6813","type":"electronic"},{"value":"0952-5041","type":"print"}],"subject":[],"published":{"date-parts":[[1995,10,1]]}}}