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dc.contributor.authorHelen Leonard, J.
dc.contributor.authorH. Marks, Lisa
dc.contributor.authorChen, Wei
dc.contributor.authorL. Cook, Anthony
dc.contributor.authorM. Boyle, Glen
dc.contributor.authorJ. Smit, Darren
dc.contributor.authorL. Brown, Darren
dc.contributor.authorL. Stow, Jennifer
dc.contributor.authorG. Parsons, Peter
dc.contributor.authorSturm, Richard A.
dc.description.abstractRecent population studies have demonstrated an association with the red-hair and fair-skin phenotype with variant alleles of the melanocortin-1 receptor (MC1R) which result in amino acid substitutions within the coding region leading to an altered receptor activity. In particular, Arg151Cys, Arg160Trp and Asp294His were the most commonly associated variants seen in the south-east Queensland population with at least one of these alleles found in 93% of those with red hair. In order to study the individual effects of these variants on melanocyte biology and melanocytic pigmentation, we established a series of human melanocyte strains genotyped for the MC1R receptor which included wild-type consensus, variant heterozygotes, compound heterozygotes and homozygotes for Arg151Cys, Arg160Trp, Val60Leu and Val92Met alleles. These strains ranged from darkly pigmented to amelanotic, with all strains of consensus sequence having dark pigmentation. UV sensitivity was found not to be associated with either MC1R genotype or the level of pigmentation with a range of sensitivities seen across all genotypes. Ultrastructural analysis demonstrated that while consensus strains contained stage IV melanosomes in their terminal dendrites, Arg151Cys and Arg160Trp homozygote strains contained only stage II melanosomes. This was despite being able to show expression of tyrosinase and tyrosinase-related protein-1 markers, although at reduced levels and an ability to convert exogenous 3,4-dihydroxyphenyl-alanine (DOPA) to melanin in these strains.
dc.publisherBlackwell Munksgaard
dc.publisher.placeUnited Kingdom
dc.relation.ispartofjournalPigment Cell Research
dc.subject.fieldofresearchCancer Genetics
dc.subject.fieldofresearchBiological Sciences
dc.subject.fieldofresearchMedical and Health Sciences
dc.titleScreening of Human Primary Melanocytes of Defined Melanocortin-1 Receptor Genotype: Pigmentation Marker, Ultrastructural and UV-Survival Studies
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
gro.hasfulltextNo Full Text
gro.griffith.authorCook, Anthony

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