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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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Background
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Convergence in pigmentation at multiple levels: mutations, genes and function
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“The total number of genes involved in colour pattern formation is certainly large, but pleiotropic effects may constrain the number of genes that are free to vary (Hoekstra 2006; Hofreiter & Schöneberg 2010).”
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BackgroundReport of coloration anomalies in mammals from Panama
Fuentes, R., Castillo, M., Moreno, R., Quintero-Arrieta, H., Pérez, E., Jacobo Araúz, G., Añino, Y., Murcia-Moreno, D., Valdés, R., Bonilla, B., et al. (2024) · Neotropical Biology and Conservation · doi:10.3897/neotropical.19.e125890 · Cited by 8
GONÇALVES, G. L., Hoekstra, H. E., & de Freitas, T. R. O. (2012) · Biological Journal of the Linnean Society · doi:10.1111/j.1095-8312.2011.01839.x · Cited by 8
“Targeting genes that are known to control hair colour in laboratory populations may provide insights into the mechanisms driving coat-colour evolution in the wild (Hofreiter & Schöneberg, 2010; Hubbard et al., 2010).”
BackgroundAn examination of melanogenic traits and TYRP1 polymorphism in Nanping and Romney Marsh sheep breeds
Li, G., Xiong, H., Xi, D., Memon, S., Wang, L., Liu, X., & Deng, W. (2018) · Archives animal breeding/Archiv für Tierzucht · doi:10.5194/aab-61-131-2018 · Cited by 8
“Indeed, it is known that more than 150 genes and 300 genetic loci (Norris and Whan, 2008; Hofreiter and Schöneberg, 2010; Cieslak et al., 2011; Aydin et al., 2012; Li et al., 2014) and environmental factors affect the pigmentation of the integument, including coat color, in animals.”
BackgroundKageyama, M., Takenouchi, A., Kinoshita, K., Nakamura, Y., & Tsudzuki, M. (2018) · The Journal of Poultry Science · doi:10.2141/jpsa.0180006 · Cited by 8
“Several genes are associated with melanin production in various animal species (Jackson, 1994; Hofreiter and Schöneberg, 2010).”
BackgroundANALISIS GAMBAR DIGITAL SEBAGAI METODE KARAKTERISASI DAN KUANTIFIKASI WARNA PADA IKAN HIAS
Kusumah, R. V., Kusrini, E., Murniasih, S., Prasetio, A. B., & Mahfudz, K. (2011) · Jurnal Riset Akuakultur · doi:10.15578/jra.6.3.2011.381-392 · Cited by 8
Hartatik, T. (2016) · Asian Journal of Animal Sciences · doi:10.3923/ajas.2017.40.46 · Cited by 7
Aximoff, I., Hübel, M., Ltda, U. R. V. D. E., de Freitas, A. C., Rosa, C., da Amazônia, I. N. D. P., & Caravaggi, A. (2021) · Oecologia Australis · doi:10.4257/oeco.2021.2504.07 · Cited by 7
Ramos-Luna, J., Alvarez‐Velazquez, M. F., Chapman, C. A., & Serio‐Silva, J. C. (2022) · Folia Primatologica · doi:10.1163/14219980-20201104 · Cited by 7
“Coloration in mammals is determined by the distribution and overall presence of melanin in the skin, hair, eyes, and fur (Fertl and Rosel, 2002; Hofreiter and Schöneberg, 2010).”
BackgroundCotts, L., Prestes, S. B. S., Pires, J. R., & Mathias, M. D. L. (2023) · Mammalia · doi:10.1515/mammalia-2023-0104 · Cited by 7
Pereira, J., Wolfenson, L., Artero, D. F., Argerich, E. C., Varela, D., & Fracassi, N. (2023) · Zeitschrift f\ ur Jagdwissenschaft · doi:10.1007/s10344-023-01694-y · Cited by 6
“A selective disadvantage of anomalous phenotypes is lower survival rates than regularly colored individuals due to predation because camouflage is part of predation avoidance (e.g., Hofreiter and Schöneberg 2010; Sokos et al.”
BackgroundFirst record of albinism in the paca Cuniculus paca (Rodentia, Cuniculidae) in southeast Mexico
García-Casimiro, E., & Santos‐Moreno, A. (2020) · Neotropical Biology and Conservation · doi:10.3897/neotropical.15.e50951 · Cited by 6
“This pigment is produced in melanocytes, which are primarily found in the epidermis and eye and hair follicles (Hofreiter and Schöneberg 2010).”
BackgroundCreb2 involved in innate immunity by activating PpMitf-mediated melanogenesis in Pteria penguin
Yu, F., Du, Z., Zhong, Z., Yu, X., Chen, J., Lu, Y., & Lin, J. (2023) · Fish & Shellfish Immunology · doi:10.1016/j.fsi.2023.108809 · Cited by 5
Tang, S., Janpoom, S., Prasertlux, S., Rongmung, P., Ratdee, O., Zhang, W., Khamnamtong, B., & Klinbunga, S. (2022) · Comparative Biochemistry and Physiology Part D Genomics and Proteomics · doi:10.1016/j.cbd.2022.101014 · Cited by 5
Variación en la coloración y los patrones del pelaje en los felinos
Rubio-Gutiérrez, I. C., & Guevara‐Chumacero, L. M. (2017) · Investigación y Ciencia de la Universidad Autónoma de Aguascalientes · doi:10.33064/iycuaa201771611 · Cited by 5
Khalil, S., Walsh, J., Enbody, E. D., Baldassarre, D. T., Webster, M. S., & Karubian, J. O. (2025) · Evolution · doi:10.1093/evolut/qpaf135 · Cited by 4
Un caso de albinismo en topillo lusitano, Microtus lusitanicus (Gerbe, 1879)
Miñarro, M. (2012) · Galemys Spanish Journal of Mammalogy · doi:10.7325/galemys.2012.n02 · Cited by 4
Variation of Human Hairiness: A Possible Adaptation to Solar Radiation and Melanin
Dhugga, A., Henneberg, M., & Kumaratilake, J. (2014) · Anthropological Review · doi:10.2478/anre-2014-0017 · Cited by 4
“Hair pigment derives from melanin being taken up by keratinocytes (Hofreiter and Schöneberg 2010).”
Aberraciones no leucísticas en el plumaje de aves en Nayarit, México
Molina, D., Vargas, J., Miramontes, E., Villagómez, S., Robles-Martínez, J. A., Dávila-Santos, J. L., & Villar-Rodríguez, C. (2018) · Huitzil Revista Mexicana de Ornitología · doi:10.28947/hrmo.2018.19.2.349 · Cited by 4
Light stress affected body color by tyrosinase-mediated melanin synthesis pathway in hybrid grouper
Yu, F., Zhong, Z., Zhang, J., Liu, Y., Chen, J., & Tang, B. (2022) · Aquaculture Reports · doi:10.1016/j.aqrep.2022.101027 · Cited by 4
Does dietary β-carotene influence ontogenetic colour change in the southern corroboree frog?
Walton, S. J., Silla, A. J., Endler, J. A., & Byrne, P. G. (2021) · Journal of Experimental Biology · doi:10.1242/jeb.243182 · Cited by 4
Tang, Q., Shi, L., Liu, F., Yu, D., & Liu, H. (2016) · Europe PMC (PubMed Central) · doi:10.13918/j.issn.2095-8137.2016.5.281 · Cited by 4
“…gene with a 966 bp long open reading frame (ORF), including seven transmembrane domains (Bar et al., 2013; Braasch et al., 2008; Henning et al., 2010; Hofreiter & Schöneberg, 2010; Nunes et al., 2011), suggesting that this gene should be a good molecular marker for reconstructing fish phylogeny.”
BackgroundChromatic anomalies in Akodontini (Cricetidae: Sigmodontinae)
da Silva, F. A., Lessa, G. M., Bertuol, F., de Freitas, T. R. O., & Quintela, F. M. (2019) · Brazilian Journal of Biology · doi:10.1590/1519-6984.214680 · Cited by 3
Martinez, J. A. S., Mora, J. M., Rodríguez, J. A., Rojas, E. R., Alvarado, J. R., & Medina, R. T. (2021) · Caribbean Journal of Science · doi:10.18475/cjos.v51i1.a2 · Cited by 3
“Some abnormal colorations are due to a deficiency (leucism and piebaldism), or the absence (albinism) or an excess (melanism) of melanin production (Hofreiter and Schöneberg 2010; Romero et al. 2018).”
BackgroundPerformance assessment of natural frequencies in characterizing cracks in beams in noisy conditions
Cao, M., Song, X., Xu, W. Y., Su, Z., & Zhu, W. D. (2014) · Journal of Vibroengineering · doi:10.21595/jve.2014.14870 · Cited by 3
Leandro‐Silva, V., de Souza, J. L., Silva, J. S. D. A. E., Júnior, N. D. A. N., Regueira, R. F. S., Mendes, Y. R., & Aléssio, F. (2023) · Mammalogy Notes · doi:10.47603/mano.v8n2.276 · Cited by 3
Tang, S., Janpoom, S., Prasertlux, S., Rongmung, P., Ittarat, W., Ratdee, O., Khamnamtong, B., & Klinbunga, S. (2024) · Comparative Biochemistry and Physiology Part D Genomics and Proteomics · doi:10.1016/j.cbd.2024.101243 · Cited by 3
Anomalous coloration in European pine marten Martes martes in Elba Island, Central Italy
Manzo, E., Bartolommei, P., Dell'Agnello, F., & Cozzolino, R. (2022) · Ecology and Evolution · doi:10.1002/ece3.8980 · Cited by 2
Albinism in a raccoon Procyon lotor from Mexico
Flores‐Peredo, R., Bolívar-Cimé, B. D. S., & Mella-Méndez, I. (2021) · Mammalogy Notes · doi:10.47603/mano.v7n2.236 · Cited by 3
Karlau, A., Azcona, F., Molina, A., Trigo, P., Sánchez, J. P., & Demyda-Peyrás, S. (2025) · Animals · doi:10.3390/ani15182720 · Cited by 2
Candidate genes underlying hypomelanistic morphs in squamate reptiles
Beaudier, P., Ullate‐Agote, A., & Tzika, A. C. (2025) · Genetics · doi:10.1093/genetics/iyaf236 · Cited by 2
“These characteristics enable intra-and inter-species communication, such as recognition, sexual status, apo-sematism, camouflage, and mimicry (Hofreiter and Schoneberg 2010), and also fulfill physiological functions (Cuthill et al. 2017).”
Acosta, D. B., Pinardi, E., & Merino, M. L. (2023) · Notas sobre Mamíferos Sudamericanos · doi:10.31687/saremnms23.8.5 · Cited by 2
Kokiattrakool, W., Saengcharatuaong, N., Luapan, J., Sroykham, W., Kumsiri, R., & Kanchanaphum, P. (2024) · Brazilian Journal of Biology · doi:10.1590/1519-6984.286676 · Cited by 4
Fu, L., Shi, H., Dong, Y., Lin, Z., Bao, Y., Chen, H., & Yao, H. (2025) · Comparative Biochemistry and Physiology Part D Genomics and Proteomics · doi:10.1016/j.cbd.2025.101619 · Cited by 2
Laurindo, R. D. S., Maas, A. C. S., da Rosa, A. R., Cunha, I. N., da Rosa, J. P. D. S., Queiroz, L. H., & de Almeida, M. F. (2022) · Barbastella · doi:10.14709/barbj.14.1.2021.08 · Cited by 2
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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