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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
Pigment Cell Research
Article . 2003 . Peer-reviewed
License: Wiley Online Library User Agreement
Data sources: Crossref
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Screening of Human Primary Melanocytes of Defined Melanocortin‐1 Receptor Genotype: Pigmentation Marker, Ultrastructural and UV‐Survival Studies

Authors: Helen Leonard, J.; H. Marks, Lisa; Chen, Wei; L. Cook, Anthony; M. Boyle, Glen; J. Smit, Darren; L. Brown, Darren; +3 Authors

Screening of Human Primary Melanocytes of Defined Melanocortin‐1 Receptor Genotype: Pigmentation Marker, Ultrastructural and UV‐Survival Studies

Abstract

Recent 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.

Country
Australia
Keywords

Genetic Markers, Male, Heterozygote, Genotype, Cell Survival, Dermatology, Growth, 270100 Biochemistry and Cell Biology, Arginine, Medical and Health Sciences, C1, Cancer Genetics, Humans, Antigens, Pheomelanin, Melanoma, Alleles, Cells, Cultured, Melanogenic Response, Skin, Melanins, Melanosomes, Pigmentation, Stimulating Hormone, Homozygote, Cell Biology, Red Hair, DNA, Biological Sciences, Monoclonal-antibody, 730117 Skin and related disorders, Dihydroxyphenylalanine, 321020 Pathology, Microscopy, Electron, Microscopy, Fluorescence, Human-melanoma Cells, Cystine, Melanocytes, Tyrosinase, Alpha-msh, Cultured Human Melanocytes, Melanosome

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
43
Average
Top 10%
Top 10%
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