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Cited by 39melanin and skin pigmentationMelanoma and MAPK PathwaysGenetic and rare skin diseases.

Screening of human primary melanocytes of defined melanocortin-1 receptor genotype: pigmentation marker, ultrastructural and UV-survival studies

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Leonard, J. Helen, Marks, Lisa H., Chen, Wei, Cook, Anthony L., Boyle, Glen M., Smit, Darren J., Brown, Darren L., Stow, Jennifer L. +2 more·2003·Pigment Cell Research
DOI 10.1034/j.1600-0749.2003.00033.x
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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.

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  • Our genotyped cell strains reflected the population-based genotype-phenotype association studies implicating these polymorphisms in human pigmentation variation in a similar manner to that observed for cultured melanocytes of defined MC1R genotype.

    “Our genotyped cell strains therefore reflected the population-based genotype-phenotype association studies implicating these polymorphisms in human pigmentation variation in a similar manner to that observed for cultured melanocytes of defined MC1R genotype”

    From Analysis of Cultured Human Melanocytes Based on Polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P Loci (2009) · cites this paper as Leonard et al., 2003

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Authors
Leonard, J. H., Marks, L. H., Chen, W., Cook, A. L., Boyle, G. M., Smit, D. J., Brown, D. L., Stow, J. L., Parsons, P. G., & Sturm, R. A.
Affiliations
  • QIMR Berghofer Medical Research Institute (AU)
  • The University of Queensland (AU)
Corresponding author
Sturm, Richard A.
ORCID
Venue
Pigment Cell Research
Publisher
Wiley
Published
2003-05-13
Volume
16
Issue
3
Pages
198-207
ISSN
  • 0893-5785 (ISSN-L)
  • 1600-0749
DOI
10.1034/j.1600-0749.2003.00033.x
OpenAlex
W2124248827
Cited by
39
References
61
Citations by year
2022: 1 · 2017: 2 · 2014: 2 · 2013: 1 · 2012: 1
FWCI
1.34
Type
journal article
Language
en
Open access
Licence
Locations
  • Pigment Cell Research (publishedVersion)
  • PubMed (publishedVersion)
  • eCite Digital Repository (University of Tasmania) (submittedVersion)
  • Figshare (submittedVersion, cc-by)
  • Griffith Research Online (submittedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Melanoma and MAPK Pathways
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
Keywords
MC1R, MC1R variants, melanocyte pigmentation, red hair, fair skin, compound heterozygosity, melanosomes, tyrosinase, TRP-1, UV sensitivity, melanogenesis, DOPA
MeSH terms
Alleles, alpha-MSH, Antigens, Arginine, Cell Survival, Cells, Cultured, Cystine, DNA, Dihydroxyphenylalanine, Genetic Markers, Genotype, Heterozygote, Homozygote, Humans, Male, Melanins, Melanocytes, Melanoma, Microscopy, Electron, Microscopy, Fluorescence, Phenotype, Pigmentation, Tryptophan, Monophenol Monooxygenase, Ultraviolet Rays, Melanosomes

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