Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
18650849
TITLE
Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci.
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.
DATE PUBLISHED
2009 Feb
HISTORY
PUBSTATUS PUBSTATUSDATE
aheadofprint 2008/07/24
pubmed 2008/07/25 09:00
medline 2009/02/28 09:00
entrez 2008/07/25 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Cook AL Cook Anthony L AL Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Queensland, Australia.
Chen W Chen Wei W
Thurber AE Thurber Amy E AE
Smit DJ Smit Darren J DJ
Smith AG Smith Aaron G AG
Bladen TG Bladen Timothy G TG
Brown DL Brown Darren L DL
Duffy DL Duffy David L DL
Pastorino L Pastorino Lorenza L
Bianchi-Scarra G Bianchi-Scarra Giovanna G
Leonard JH Leonard J Helen JH
Stow JL Stow Jennifer L JL
Sturm RA Sturm Richard A RA
INVESTIGATORS
JOURNAL
VOLUME: 129
ISSUE: 2
TITLE: The Journal of investigative dermatology
ISOABBREVIATION: J. Invest. Dermatol.
YEAR: 2009
MONTH: Feb
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1523-1747
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: J Invest Dermatol
COUNTRY: United States
ISSNLINKING: 0022-202X
NLMUNIQUEID: 0426720
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Antigens, Neoplasm genetics
Antiporters genetics
Cells, Cultured genetics
European Continental Ancestry Group genetics
Eye Color genetics
Gene Expression Regulation physiology
Genotype physiology
Hair Color genetics
Humans genetics
Melanins metabolism
Melanocytes physiology
Membrane Transport Proteins genetics
Microphthalmia-Associated Transcription Factor metabolism
Phenotype metabolism
Polymorphism, Single Nucleotide physiology
Promoter Regions, Genetic physiology
RNA, Messenger metabolism
Receptor, Melanocortin, Type 1 genetics
Skin cytology
Skin Pigmentation genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 Antigens, Neoplasm
0 Antiporters
0 MITF protein, human
0 Melanins
0 Membrane Transport Proteins
0 Microphthalmia-Associated Transcription Factor
0 OCA2 protein, human
0 RNA, Messenger
0 Receptor, Melanocortin, Type 1
0 SLC24A5 protein, human
0 SLC45A2 protein, human
OTHER ID's