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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“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]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Melanin pigmentation in mammalian skin and its hormonal regulation
Slominski, A., Tobin, D. J., Shibahara, S., & Wortsman, J. (2004) · Physiological Reviews · doi:10.1152/physrev.00044.2003 · Cited by 2,015
The cloning of a family of genes that encode the melanocortin receptors
Mountjoy, K. G., Robbins, L. S., Mortrud, M. T., & Cone, R. D. (1992) · Science · doi:10.1126/science.1325670 · Cited by 1,635
The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene
Geissler, E. N., Ryan, M. A., & Housman, D. E. (1988) · Cell · doi:10.1016/0092-8674(88)90020-7 · Cited by 1,287
Speciation through sensory drive in cichlid fish
D, O. S. C., Terai, Y., Magalhaes, I. S., Carleton, K. L., Mrosso, H. D. J., Miyagi, R., van der Sluijs, I., Schneider, M. V., Maan, M. E., Tachida, H., et al. (2008) · Nature · doi:10.1038/nature07285 · Cited by 1,104
Robbins, L. S. (1993) · Cell · doi:10.1016/0092-8674(93)90572-8 · Cited by 880
Female sticklebacks use male coloration in mate choice and hence avoid parasitized males
Milinski, M., & Bakker, T. C. M. (1990) · Nature · doi:10.1038/344330a0 · Cited by 861
Molecular characterization of the mouse agouti locus
Bultman, S. J., Michaud, E. J., & Woychik, R. P. (1992) · Cell · doi:10.1016/s0092-8674(05)80067-4 · Cited by 805
Constitutive activity of receptors coupled to guanine nucleotide regulatory proteins
Lefkowitz, R. J., Cotecchia, S., Samama, P., & Costa, T. (1993) · Trends in Pharmacological Sciences · doi:10.1016/0165-6147(93)90048-o · Cited by 792
Divergent sexual selection enhances reproductive isolation in sticklebacks
BOUGHMAN, J. W. (2001) · Nature · doi:10.1038/35082064 · Cited by 760
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].”
Background
Cited by
Sorted by citations
Items 101–128 of 128
First case of albinism registered for Ateles chamek (Humboldt, 1812)
Lange, L. R., & Glynn, S. (2022) · Neotropical Primates · doi:10.62015/np.2022.v28.224 · Cited by 1
“Anomalous pigmentation is a recessive and rare phenomenon (Uieda 2000; Hofreiter and Schöneberg 2010; Espinal et al. 2016) and can take on different forms: albinism, leucism and piebaldism (Brito and Valdivieso-Bermeo 2016).”
BackgroundUrquizo, J. H., Ferro, I., Murgia, A., Pardiñas, U. F. J., & Martínez, J. J. (2024) · Biological Journal of the Linnean Society · doi:10.1093/biolinnean/blad167 · Cited by 1
de Oliveira, M. B., Gentil, M. D. A., Cosentino, M. A. C., & Bonvicino, C. R. (2024) · Notas sobre Mamíferos Sudamericanos · doi:10.31687/saremnms24.01.4 · Cited by 1
Sail, P., & Borkar, M. (2024) · Journal of Threatened Taxa · doi:10.11609/jott.9111.16.6.25433-25439 · Cited by 1
“They are caused either by a deficiency or an excess of melanin (Hofreiter & Schöneberg 2010; Abreu et al. 2013).”
BackgroundKumsiri, R., Yin, N. N., & Kanchanaphum, P. (2025) · Brazilian Journal of Biology · doi:10.1590/1519-6984.293718 · Cited by 3
PINHEIRO-COSTA, N. C., & Norris, D. (2025) · Acta Amazonica · doi:10.1590/1809-4392202303681 · Cited by 3
Mutation ages and population origins inferred from genomes in structured populations
Nagel, A. A., & Rannala, B. H. (2025) · Genetics · doi:10.1093/genetics/iyaf204 · Cited by 1
Mora, J. M., López, L. I., Murillo, D. B., & Mora, L. (2026) · Caribbean Journal of Science · doi:10.18475/cjos.v56i1.a8 · Cited by 1
Dual-receptor switch bifurcates Kitlga for Nile tilapia pigmentation
Yao, J., Li, T., Liang, G., Wen, Z., Liu, X., Fang, F., Liu, H., Wang, C., Liu, X., & Wang, D. (2026) · Water Biology and Security · doi:10.1016/j.watbs.2026.100631 · Cited by 2
Ultrarapid MC1R protein and associated plumage color evolution in the domestic chicken
Ma, C., Liebing, A., Kleinau, G., Kamprad, A., Calabrese, L., Szczepek, M., Li, Z., Larsson, M., Scheerer, P., Stäubert, C., et al. (2026) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2605288123 · Cited by 1
“MC1R is one of the most, if not the most, polymorphic locus affecting pigmentation in vertebrates (2, 3, 36).”
Color patterns as a model for connecting developmental mechanisms to phenotypic evolution
Weller, H. I., Kratochwil, C. F., & Staps, M. (2026) · Nature Communications · doi:10.1038/s41467-026-75406-w · Cited by 1
“Genetic changes have been repeatedly found to underlie pattern variation both between and within species 6,77,78 .”
Freire-Filho, R., Lopes, A. M. C., Câmara, T., Damasceno, C., Cordeiro, J. L. P., & Vilela, J. F. (2024) · Mammalia · doi:10.1515/mammalia-2023-0103 · Cited by 1
Soós, N., & Kusza, S. (2016) · Acta Agraria Debreceniensis · doi:10.34101/actaagrar/70/1822 · Cited by 1
Analysis of expression levels of genes involved in the nacre color of Hyriopsis cumingii shell
Wang, Z. G., Mei, Y. Y., Zheng, R. Q., Mao, Y. Y., Zhang, G. F., & Ye, R. H. (2020) · ScienceAsia · doi:10.2306/scienceasia1513-1874.2020.030
Nucleotide diversity of the melanocortin 1 receptor gene (MC1R) in the gayal (Bos frontalis)
XiQing, D., Huo, L., SunJing, Y., Gou, L., & Deng, H. M. (2012)
Abdominal Grey Color Variation along an Elevation Gradient in a Lizard
Wei, Z., Li, J., Wang, T., Yang, M., & Jin, Y. (2023) · Asian Herpetological Research · doi:10.3724/ahr.2095-0357.2022.0049
First North African record of a melanistic rabbit, Oryctolagus cuniculus (Linnaeus, 1758)
Bounaceur, F., Abdelhamid, D., Djilali, M., Lasgaa, F., Bissaad, F. Z., & Aulagnier, S. (2023) · Mammalia · doi:10.1515/mammalia-2023-0047
Baltazar‐Soares, M., Karell, P., Wright, D. S., Nilsson, J., & Brommer, J. E. (2023) · doi:10.22541/au.168907645.51740638/v1
Herencia del color del pelaje en el ganado criollo Romosinuano
Ossa-Saraz, G. A., Santana-Rodriguez, M. O., & Velásquez-Penagos, J. H. (2022) · Revista Colombiana de Ciencia Animal Recia · doi:10.24188/recia.v14.n2.2022.921
Hayder, F., San, E. D. L., Fartoussi, A. M. H., & Madikiza, Z. J. K. (2025) · Mammalia · doi:10.1515/mammalia-2024-0125
Çalışkan, S. S., & Aytaç, Ö. (2025) · Turkish Journal of Forestry | Türkiye Ormancılık Dergisi · doi:10.18182/tjf.1697670
Goud, T. S., Upadhyay, R. C., Pichili, V. B. R., Onteru, S. K., & Chadipiralla, K. (2021) · Figshare · doi:10.6084/m9.figshare.13668042
Li, H. X., Luo, Q., Wang, W., Zhang, Y., Li, D., Yuan, K., Zhou, Y., Wang, J., & Xiang, J. (2026) · Aquaculture Reports · doi:10.1016/j.aqrep.2026.103522
Seixas, J. S., dos Santos, M. C., Andrade, D. G. D. P., Maia, E. D. M., Altomare, M., Tussolini, E. G. R., Ribeiro, A. T. D. L., Silva, G. M., Facklam, F. F., Valle, S., et al. (2026) · Studies on Neotropical Fauna and Environment · doi:10.1080/01650521.2026.2677661
Schniter, E., & Peñaherrera‐Aguirre, M. (2026) · Primates · doi:10.1007/s10329-026-01271-2
“Visual displays (coloured pelage, gestures, facial expressions) communicate identity and mate quality—hair colour sig - nals parasite load and hormonal status (West and Packer 2002; Clough et al. 2009; Hofreiter and Schöneberg 2010) and species identity (San-tana et al. 2013; Allen et al. 2014).”
Common Pericote Graomys griseoflavus (Waterhouse, 1837)
Urquizo, J. H., & Martínez, J. J. (2026) · Handbook of the Mammals of Middle and South America. · doi:10.1007/978-3-031-45538-4_68-1
Silva-Caballero, A., & Castro-Urbiola, J. (2026) · Mammalogy Notes · doi:10.47603/mano.v12n2.585
“Nonetheless, chromatic anomalies can result from either an overproduction or deficiency of melanin, manifesting as partial or complete alterations in coloration across the body (Hofreiter & Schöneberg 2010; Abreu et al. 2013).”
Convergent mutations underpin the repeated evolution of brown plumage in seabirds
Shen, S., McCulloch, G. A., King, T. M., Rawlence, N. J., Kennedy, M., & Waters, J. M. (2026) · Ibis · doi:10.1111/ibi.70139
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review