A golden age of human pigmentation genetics
Abstract
The zebrafish golden mutation is characterized by the production of small and irregular-shaped melanin granules, resulting in a lightening of the pigmented lateral stripes of the animal. The recent positional cloning and localization of the golden gene, combined with genotype-phenotype correlations of alleles of its human orthologue (SLC24A5) in African-American and African-Caribbean populations, provide insights into the genetic and molecular basis of human skin colour. SLC24A5 promotes melanin deposition through maturation of the melanosome, highlighting the importance of ion-exchange in the function of this organelle.
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SNPs within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P genes have been associated with natural variation of pigmentation traits in human populations.
“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.”
From Analysis of Cultured Human Melanocytes Based on Polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P Loci (2009) · cites this paper as Sturm, 2006
As MATP-374L and NCKX5-111A alleles both occur at maximal frequencies in Asians and Africans, other populations that show substantial differences in the degree of pigmentation have these and other polymorphisms contribute to these phenotypic differences.
“Notably, as MATP-374L and NCKX5-111A alleles both occur at maximal frequencies in Asians and Africans (reviewed in Sturm, 2006), other populations that show substantial differences in the degree of pigmentation (Tadokoro et al., 2003;Norton et al., 2007) have these and other polymorphisms contribute to these phenotypic differences.”
From Analysis of Cultured Human Melanocytes Based on Polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P Loci (2009) · cites this paper as Sturm, 2006
Variation in human pigmentation is a polygenic trait.
“Variation in human pigmentation is a polygenic trait (Sturm, 2006)”
From Analysis of Cultured Human Melanocytes Based on Polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P Loci (2009) · cites this paper as Sturm, 2006
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References 21 · Cited by 106
- Authors
- STURM, R.
- Affiliations
- The University of Queensland (AU)
- Corresponding author
- STURM, R
- ORCID
- STURM, R
- Venue
- Trends in Genetics
- Publisher
- Elsevier BV
- Published
- 2006-09
- Volume
- 22
- Issue
- 9
- Pages
- 464-468
- ISSN
- 0168-9525 (ISSN-L)
- OpenAlex
- W2003184511
- Cited by
- 106
- References
- 21
- Citations by year
- 2026: 1 · 2025: 1 · 2023: 3 · 2022: 3 · 2021: 4 · 2020: 5 · 2019: 2 · 2018: 4 · 2017: 11 · 2016: 1 · 2015: 1 · 2014: 4 · 2013: 4 · 2012: 8
- FWCI
- 4.95
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Trends in Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Melanoma and MAPK Pathways
- Keywords
- SLC24A5, skin colour, melanin granules, melanosome maturation, melanin deposition, ion exchange, positional cloning, genotype-phenotype correlation, African American population, Afro-Caribbean population
- MeSH terms
- Animals, Biological Transport, Ethnicity, Eye Color, Gene Frequency, Hair Color, Humans, Melanins, Models, Biological, Mutation, Skin Pigmentation, Genetic Variation, Melanosomes, Models, Animal
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