The DOI matches its Crossref record; 113 of the 113 references it cites were found in a registry or an index.
The genetic and evolutionary basis of colour variation in vertebrates
Open accessAbstract
Variation in pigmentation is one of the most conspicuous phenotypic traits in vertebrates. Although mammals show less variation in body pigmentation than other vertebrate groups, the genetics of colour determination and variation is best understood for them. More than 150 genes have been identified that influence pigmentation, and in many cases, the cause for variation in pigmentation has been identified down to the underlying nucleotide changes. These studies show that while some genes are often responsible for deviating pigmentation, similar or almost identical phenotypes even in the same species may be due to mutations in different genes. In this review we will first discuss the current knowledge about the genes and their functions underlying the biochemical pathways that determine pigmentation and then give examples where the mutations responsible for colour variation have been determined. Finally, we will discuss potential evolutionary causes for and consequences of differences in pigmentation between individuals.
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“Assortative mating based on coloration is common in vertebrates (57), and skin pigmentation has been observed as a criterion for endogamy in modern human populations (58, 59).”
From Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the last 5,000 y (2014) · cites this paper as [57]
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Citations
Cites
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Genetic determinants of hair, eye and skin pigmentation in Europeans
Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Magnusson, K. P., Manolescu, A., Karason, A., Palsson, A., Thorleifsson, G., et al. (2007) · Nature Genetics · doi:10.1038/ng.2007.13 · Cited by 750 · cited 1×
“polymorphisms in a number of genes such as TYR, SLC24A4, SLC45A2, SLC24A5, ASIP, OCA2, KITLG and HERC2 present in human populations can account for differences between those of darkest and lightest skin [9, 102–104].”
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Convergence in pigmentation at multiple levels: mutations, genes and function
Manceau, M., DOMINGUES, V. S., Linnen, C. R., Rosenblum, E. B., & Hoekstra, H. E. (2010) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2010.0104 · Cited by 327
“…a growing list of pigmentation genes identified in laboratory models provides a wealth of candidate genes to understand the mechanisms underlying the convergence of colour phenotypes at different levels of biological organization (Hoekstra 2006; Hofreiter & Schöneberg 2010; Hubbard et al. 2010).”
BackgroundWilde, S., Timpson, A., Kirsanow, K., Kaiser, E., Kayser, M., Unterländer, M., Hollfelder, N., Potekhina, I. D., Schier, W., Thomas, M. G., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1316513111 · Cited by 257
“Assortative mating based on coloration is common in vertebrates (57), and skin pigmentation has been observed as a criterion for endogamy in modern human populations (58, 59).”
BackgroundMaan, M. E., & Sefc, K. M. (2013) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2013.05.003 · Cited by 233
“A single dominant mutation determines the gold phenotype, but in contrast to melanic colour polymorphisms in tetrapod vertebrates, which are often caused by mutations in the coding sequence of the transmembrane melanocortin receptor 1 gene [58, 59], no mc1r sequence polymorphism was found to be linked to coloration in…”
BackgroundHuman pigmentation genes under environmental selection
Sturm, R. A., & Duffy, D. L. (2012) · Genome Biology · doi:10.1186/gb-2012-13-9-248 · Cited by 182
“MC1R is especially interesting because it is a small intronless gene where polymorphism has repeatedly arisen quickly (5,000 to 10,000 years) under evolutionary pressure in vertebrates from fish to humans [59].”
BackgroundCapturing Protein-Coding Genes Across Highly Divergent Species
Li, C., Hofreiter, M., Straube, N., Corrigan, S. L., & Naylor, G. J. P. (2013) · BioTechniques · doi:10.2144/000114039 · Cited by 194
Self-citation
Metadata
- Authors
- Hofreiter, M., & Schöneberg, T.
- Affiliations
- University of York (GB)
- Leipzig University (DE)
- Corresponding author
- Hofreiter, Michael
- Venue
- Cellular and Molecular Life Sciences
- Published
- 2010-03-14
- Volume
- 67
- Issue
- 15
- Pages
- 2591-2603
- ISSN
- 1420-682X (ISSN-L)
- 1420-9071
- PMC
- PMC11115542
- OpenAlex
- W1972312173
- Cited by
- 128
- References
- 113
- Citations by year
- 2026: 10 · 2025: 9 · 2024: 10 · 2023: 10 · 2022: 10 · 2021: 15 · 2020: 5 · 2019: 5 · 2018: 6 · 2017: 1 · 2016: 12 · 2015: 3 · 2014: 6 · 2013: 10 · 2012: 12
- FWCI
- 0.74
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Cellular and Molecular Life Sciences (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Max Planck Institute for Plasma Physics (submittedVersion)
- MPG.PuRe (Max Planck Society) (submittedVersion)
- Funders
- Max-Planck-Gesellschaft
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
- Keywords
- pigmentation, color variation, vertebrates, pigmentation genes, genetic mutations, mammals
- MeSH terms
- Animals, Color, Biological Evolution, Genes, Mutation, Phenotype, Pigmentation, Reproduction, Vertebrates
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