Analysis of Cultured Human Melanocytes Based on Polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P Loci

Cook, Anthony L., Chen, Wei, Thurber, Amy E., Smit, Darren J., Smith, Aaron G., Bladen, Timothy G., Brown, Darren L., Duffy, David L., Pastorino, Lorenza, Bianchi-Scarra, Giovanna, Leonard, J. Helen, Stow, Jennifer L. and Sturm, Richard A. (2009) Analysis of Cultured Human Melanocytes Based on Polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P Loci. Journal of Investigative Dermatology, 129 2: 392-405. doi:10.1038/jid.2008.211


Author Cook, Anthony L.
Chen, Wei
Thurber, Amy E.
Smit, Darren J.
Smith, Aaron G.
Bladen, Timothy G.
Brown, Darren L.
Duffy, David L.
Pastorino, Lorenza
Bianchi-Scarra, Giovanna
Leonard, J. Helen
Stow, Jennifer L.
Sturm, Richard A.
Title Analysis of Cultured Human Melanocytes Based on Polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P Loci
Formatted title
Analysis of Cultured Human Melanocytes Based on Polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P Loci
Journal name Journal of Investigative Dermatology   Check publisher's open access policy
ISSN 0022-202X
1523-1747
Publication date 2009-02-01
Year available 2008
Sub-type Article (original research)
DOI 10.1038/jid.2008.211
Volume 129
Issue 2
Start page 392
End page 405
Total pages 14
Editor P. R. Bergstresser
Place of publication New York, USA
Publisher Nature Publishing Group
Collection year 2009
Language eng
Subject 060111 Signal Transduction
060103 Cell Development, Proliferation and Death
060405 Gene Expression (incl. Microarray and other genome-wide approaches)
920117 Skin and Related Disorders
970106 Expanding Knowledge in the Biological Sciences
C1
0604 Genetics
Formatted abstract
Single nucleotide polymorphisms (SNPs) within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P genes have been associated with natural variation of pigmentation traits in human populations. Here, we describe the characterization of human primary melanocytic cells genotyped for polymorphisms within the MATP, NCKX5, or OCA2 loci. On the basis of genotype, these cultured cells reflect the phenotypes observed by others in terms of both melanin content and tyrosinase (TYR) activity when comparing skin designated as either "White" or "Black". We found a statistically significant association of MATP-374L (darker skin) with higher TYR protein abundance that was not observed for any NCKX5-111 or OCA2 rs12913832 allele. MATP-374L/L homozygous strains displayed significantly lower MATP transcript levels compared to MATP-374F/F homozygous cells, but this did not reach statistical significance based on NCKX5 or OCA2 genotype. Similarly, we observed significantly increased levels of OCA2 mRNA in rs12913832-T (brown eye) homozygotes compared to rs12913832-C (blue eye) homozygous strains, which was not observed for MATP or NCKX5 gene transcripts. In genotype–phenotype associations performed on a collection of 226 southern European individuals using these same SNPs, we were able to show strong correlations in MATP-L374F, OCA2, and melanocortin-1 receptor with skin, eye, and hair color variation, respectively.
Keyword Performance Liquid chromatography
Oculocutaneous Albinism
Human skin
Tyrosinase activity
Human pigmentation
Melanin content
Color variation
Eye Color
Genetic determinants
Transcription factor
Q-Index Code C1
Q-Index Status Confirmed Code

Document type: Journal Article
Sub-type: Article (original research)
Collections: 2009 Higher Education Research Data Collection
Institute for Molecular Bioscience - Publications
 
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Created: Tue, 17 Mar 2009, 01:50:25 EST by Cody Mudgway on behalf of Institute for Molecular Bioscience