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This includes assays of TYR protein, <jats:styled-content style=\"fixed-case\">DOPA<\/jats:styled-content>oxidase activity, glycosylation and temperature sensitivity of protein and <jats:styled-content style=\"fixed-case\">DOPA<\/jats:styled-content>oxidase levels. Homozygous wild\u2010type strains on average had higher levels of TYR protein and enzyme activity than other genotypes. Homozygous 402Q\/Q melanocytes produced significantly less TYR protein, displayed altered trafficking and glycosylation, with reduced <jats:styled-content style=\"fixed-case\">DOPA<\/jats:styled-content>oxidase. However, near wild\u2010type <jats:styled-content style=\"fixed-case\">TYR<\/jats:styled-content> activity levels could be recovered at lower growth temperature. In a sample population from Southeast Queensland, these two polymorphisms were present on four <jats:styled-content style=\"fixed-case\">TYR<\/jats:styled-content> haplotypes, designated as <jats:styled-content style=\"fixed-case\">WT<\/jats:styled-content> 192S\u2010402R, 192Y\u2010402R and 192S\u2010402Q with a double\u2010variant 192Y\u2010402Q of low frequency at 1.9%. Based on cell culture findings and haplotype associations, we have used an additive model to assess the penetrance of the ten possible <jats:styled-content style=\"fixed-case\">TYR<\/jats:styled-content> genotypes derived from the combination of these haplotypes.<\/jats:p>","DOI":"10.1111\/pcmr.12253","type":"journal-article","created":{"date-parts":[[2014,4,17]],"date-time":"2014-04-17T10:22:33Z","timestamp":1397730153000},"page":"552-564","source":"Crossref","is-referenced-by-count":60,"title":["Molecular analysis of common polymorphisms within the human <i>Tyrosinase<\/i> locus and genetic association with pigmentation traits"],"prefix":"10.1111","volume":"27","author":[{"given":"Kasturee","family":"Jagirdar","sequence":"first","affiliation":[{"name":"Institute for Molecular Bioscience University of Queensland Brisbane Qld Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darren J.","family":"Smit","sequence":"additional","affiliation":[{"name":"Institute 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