Cited by 128melanin and skin pigmentationGenetic Mapping and Diversity in Plants and AnimalsGenetic and phenotypic traits in livestock

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The genetic and evolutionary basis of colour variation in vertebrates

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Hofreiter, Michael, Schöneberg, Torsten·2010·Cellular and Molecular Life Sciences

DOI 10.1007/s00018-010-0333-7PMC PMC11115542

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Abstract

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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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
Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function
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
A Single Amino Acid Mutation Contributes to Adaptive Beach Mouse Color Pattern
Hoekstra, H. E., Hirschmann, R. J., Bundey, R. A., Insel, P. A., & Crossland, J. P. (2006) · Science · doi:10.1126/science.1126121 · Cited by 716
Genetics, development and evolution of adaptive pigmentation in vertebrates
Hoekstra, H. E. (2006) · Heredity · doi:10.1038/sj.hdy.6800861 · Cited by 664
The Repertoire of G-Protein–Coupled Receptors in Fully Sequenced Genomes
Fredriksson, R., & Schiöth, H. B. (2005) · Molecular Pharmacology · doi:10.1124/mol.104.009001 · Cited by 631
The evolution, maintenance and adaptive function of genetic colour polymorphism in birds
Roulin, A. (2004) · Biological reviews/Biological reviews of the Cambridge Philosophical Society · doi:10.1017/s1464793104006487 · Cited by 560
The genetic basis of adaptive melanism in pocket mice
Nachman, M. W., Hoekstra, H. E., & D'Agostino, S. L. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0431157100 · Cited by 550
Genetic analysis of cavefish reveals molecular convergence in the evolution of albinism
Protas, M. E., Hersey, C., Kochanek, D., Zhou, Y., Wilkens, H., Jeffery, W. R., Zon, L. I., Borowsky, R., & Tabin, C. J. (2006) · Nature Genetics · doi:10.1038/ng1700 · Cited by 543
The melanocortin receptors: agonists, antagonists, and the hormonal control of pigmentation.
Cone, R. D., Lu, D., Koppula, S. V., Våge, D. I., Klungland, H., Boston, B. A., Chen, W., Orth, D. N., Pouton, C. W., & Kesterson, R. A. (1996) · PubMed · Cited by 518
Chemistry of Mixed Melanogenesis—Pivotal Roles of Dopaquinone†
Ito, S., & Wakamatsu, K. (2007) · Photochemistry and Photobiology · doi:10.1111/j.1751-1097.2007.00238.x · Cited by 518
A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation
Han, J., Kraft, P., Nan, H., Guo, Q., Chen, C., Qureshi, A., Hankinson, S. E., Hu, F. B., Duffy, D. L., Zhao, Z. Z., et al. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000074 · Cited by 499
Genetics of hair and skin color
Rees, J. L. (2003) · Annual Review of Genetics · doi:10.1146/annurev.genet.37.110801.143233 · Cited by 485
Expression of c-kit gene products in known cellular targets of W mutations in normal and W mutant mice--evidence for an impaired c-kit kinase in mutant mice.Preprint
Nocka, K. H., Majumder, S., Chabot, B., Ray, P., Cervone, M., Bernstein, A., & Besmer, P. (1989) · Genes & Development · doi:10.1101/gad.3.6.816 · Cited by 473
Ancient DNA Evidence for Old World Origin of New World Dogs
Leonard, J. A., Wayne, R. K., Wheeler, J. C., Valadez, R., Guillén, S. E., & Vilà, C. (2002) · Science · doi:10.1126/science.1076980 · Cited by 445
Molecular and Evolutionary History of Melanism in North American Gray Wolves
Anderson, T. M., vonHoldt, B. M., Candille, S. I., Musiani, M., Greco, C., Stahler, D. R., Smith, D. W., Padhukasahasram, B., Randi, E., Leonard, J. A., et al. (2009) · Science · doi:10.1126/science.1165448 · Cited by 416
Current challenges in understanding melanogenesis: Bridging chemistry, biological control, morphology, and function
Simon, J. D., Peles, D., Wakamatsu, K., & Ito, S. (2009) · Pigment Cell & Melanoma Research · doi:10.1111/j.1755-148x.2009.00610.x · Cited by 391 · cited 1×
“In mammals, to start with the best known and most simple example, colour depends on two major factors: the presence of pigments at all and the balance of the black eumelanin and the yellowish pheomelanin [6].”
Background
Evidence for Variable Selective Pressures at MC1R
Harding, R. M., Healy, E., Ray, A. J., Ellis, N. S., Flanagan, N., Todd, C., Dixon, C., Sajantila, A., Jackson, I. J., Birch-Machin, M. A., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/302863 · Cited by 389
Melanocortin‐1 receptor structure and functional regulation
García-Borrón, J. C., Sánchez‐Laorden, B. L., & Jiménez‐Cervantes, C. (2005) · Pigment Cell Research · doi:10.1111/j.1600-0749.2005.00278.x · Cited by 382
Molecular genetics of human pigmentation diversity
Sturm, R. A. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp003 · Cited by 379
Melanocortin Receptor 1 (MC1R) Mutations and Coat Color in Pigs
Kijas, J. M. H., Wales, R., Törnsten, A., Chardon, P., Moller, M. J., & Andersson, L. (1998) · Genetics · doi:10.1093/genetics/150.3.1177 · Cited by 377
A possible non-sexual origin of mate preference: are male guppies mimicking fruit?
Rodd, F. H., Hughes, K. A., Grether, G. F., & Baril, C. T. (2002) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rspb.2001.1891 · Cited by 361
A β-Defensin Mutation Causes Black Coat Color in Domestic Dogs
Candille, S. I., Kaelin, C. B., Cattanach, B. M., Yu, B., Thompson, D. A., Nix, M. A., Kerns, J. A., Schmutz, S. M., Millhauser, G. L., & Barsh, G. S. (2007) · Science · doi:10.1126/science.1147880 · Cited by 351
MC1R Germline Variants Confer Risk for BRAF -Mutant Melanoma
Landi, M. T., Bauer, J., Pfeiffer, R. M., Elder, D. E., Hulley, B., Minghetti, P., Calista, D., Kanetsky, P. A., Pinkel, D., & Bastian, B. C. (2006) · Science · doi:10.1126/science.1127515 · Cited by 346
Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression
Eiberg, H., Troelsen, J., Nielsen, M., Mikkelsen, A., Mengel-From, J., Kjaer, K. W., & Hansen, L. (2008) · Human Genetics · doi:10.1007/s00439-007-0460-x · Cited by 346
Honesty, perception and population divergence in sexually selected traits
Schluter, D., & Price, T. D. (1993) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rspb.1993.0089 · Cited by 344
Mutant G-protein-coupled receptors as a cause of human diseases
Schöneberg, T., Schulz, A. M., Biebermann, H., Hermsdorf, T., Römpler, H., & Sangkuhl, K. (2004) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2004.08.008 · Cited by 343
Self-citation
A model of sympatric speciation by sexual selection
Turner, G. F., & Burrows, M. T. (1995) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rspb.1995.0093 · Cited by 336
Sensory Processing in Aquatic Environments
Collin, S. P., & Marshall, N. J. (2003) · Springer eBooks · doi:10.1007/b97656 · Cited by 333
Chromatophores and color change : the comparative physiology of animal pigmentation
Bagnara, J. T., & Hadley, M. E. (1973) · Prentice Hall eBooks · Cited by 324
Molecular Genetics and Evolution of Melanism in the Cat Family
Eduardo Eizirik, C., Yuhki, N., Johnson, W. E., Menotti-Raymond, M. A., Hannah, S. S., & O’Brien, S. J. (2003) · Current Biology · doi:10.1016/s0960-9822(03)00128-3 · Cited by 320
A gene duplication affecting expression of the ovine ASIP gene is responsible for white and black sheepPreprint
Norris, B. J., & Whan, V. (2008) · Genome Research · doi:10.1101/gr.072090.107 · Cited by 307
Conserved Genetic Basis of a Quantitative Plumage Trait Involved in Mate Choice
Mundy, N. I., Badcock, N. S., Hart, T., Scribner, K. T., Janssen, K., & Nadeau, N. J. (2004) · Science · doi:10.1126/science.1093834 · Cited by 305
A novel role for Mc1r in the parallel evolution of depigmentation in independent populations of the cavefish Astyanax mexicanus
Gross, J. B., Borowsky, R., & Tabin, C. J. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000326 · Cited by 299
A Melanocortin 1 Receptor Allele Suggests Varying Pigmentation Among Neanderthals
Lalueza-Fox, C., Römpler, H., Caramelli, D., Stäubert, C., Catalano, G., Hughes, D., Rohland, N., Pilli, E., Longo, L., Condemi, S., et al. (2007) · Science · doi:10.1126/science.1147417 · Cited by 292 · cited 1×
“LaluezaFox and co-workers [113] amplified and sequenced a fragment of the MC1R gene from two Neanderthal remains.”
BackgroundSelf-citation
Molecular and functional basis of phenotypic convergence in white lizards at White Sands
Rosenblum, E. B., Römpler, H., Schöneberg, T., & Hoekstra, H. E. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0911042107 · Cited by 291
Self-citation
Male–male competition and nuptial–colour displacement as a diversifying force in Lake Victoria cichlid fishes
D, O. S. C., & Schluter, D. (2004) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rspb.2004.2737 · Cited by 279
The molecular basis of an avian plumage polymorphism in the wild
Theron, E., Hawkins, K., Bermingham, E., Ricklefs, R. E., & Mundy, N. I. (2001) · Current Biology · doi:10.1016/s0960-9822(01)00158-0 · Cited by 278
Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation
Flanagan, N. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.17.2531 · Cited by 276
ADAPTIVE REPTILE COLOR VARIATION AND THE EVOLUTION OF THE MC1R GENE
Rosenblum, E. B., Hoekstra, H. E., & Nachman, M. W. (2004) · Evolution · doi:10.1111/j.0014-3820.2004.tb00462.x · Cited by 258
Frequency-dependent survival in natural guppy populations
Olendorf, R., Rodd, F. H., Punzalan, D., Houde, A. E., Hurt, C. R., Reznick, D. N., & Hughes, K. A. (2006) · Nature · doi:10.1038/nature04646 · Cited by 250
Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka
Fukamachi, S., Shimada, A., & Shima, A. (2001) · Nature Genetics · doi:10.1038/ng584 · Cited by 245
On the Origin and Spread of an Adaptive Allele in Deer Mice
Linnen, C. R., Kingsley, E. P., Jensen, J. D., & Hoekstra, H. E. (2009) · Science · doi:10.1126/science.1175826 · Cited by 242
Interaction of Agouti protein with the melanocortin 1 receptor in vitro and in vivo
Ollmann, M. M., Lamoreux, M. L., Wilson, B. D., & Barsh, G. S. (1998) · Genes & Development · doi:10.1101/gad.12.3.316 · Cited by 226
A non-epistatic interaction of agouti and extension in the fox, Vulpes vulpes
Våge, D. I., Lu, D., Klungland, H., Lien, S., ADALSTEINSSON, S., & Cone, R. D. (1997) · Nature Genetics · doi:10.1038/ng0397-311 · Cited by 214
Changed environmental conditions weaken sexual selection in sticklebacks
Candolin, U., Salesto, T., & EVERS, M. (2006) · Journal of Evolutionary Biology · doi:10.1111/j.1420-9101.2006.01207.x · Cited by 214
Melanocortin 1‐receptor (MC1R) mutations are associated with plumage colour in chicken
Kerje, S., Lind, J., Schütz, K. E., Jensen, P., & Andersson, L. (2003) · Animal Genetics · doi:10.1046/j.1365-2052.2003.00991.x · Cited by 213
Molecular and pharmacological characterization of dominant black coat color in sheep
Våge, D. I., Klungland, H., Lu, D., & Cone, R. D. (1999) · Mammalian Genome · doi:10.1007/s003359900939 · Cited by 212
Pigments, Patterns, and Fish Behavior
Price, A. C., Weadick, C. J., Shim, J., & Rodd, F. H. (2008) · Zebrafish · doi:10.1089/zeb.2008.0551 · Cited by 211
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome
Bassi, M. T., Schiaffino, M. V., Renieri, A., de Nigris, F., Galli, L., Bruttini, M., Gebbia, M., Bergen, A. A. B., Lewis, R. A., & Ballabio, A. (1995) · Nature Genetics · doi:10.1038/ng0595-13 · Cited by 208
Multiple Pigmentation Gene Polymorphisms Account for a Substantial Proportion of Risk of Cutaneous Malignant Melanoma
Duffy, D. L., Zhao, Z., Sturm, R. A., Hayward, N. K., Martin, N. G., & Montgomery, G. W. (2009) · Journal of Investigative Dermatology · doi:10.1038/jid.2009.258 · Cited by 206
Pigs with the dominant white coat color phenotype carry a duplication of the KIT gene encoding the mast/stem cell growth factor receptor
Moller, M. J., Chaudhary, R., Hellmén, E., Høyheim, B., Chowdhary, B. P., & Andersson, L. (1996) · Mammalian Genome · doi:10.1007/s003359900244 · Cited by 202
L-DOPA Is an Endogenous Ligand for OA1
López‐Ozuna, V. M., Decatur, C. L., Stamer, W. D., Lynch, R. M., & McKay, B. S. (2008) · PLoS Biology · doi:10.1371/journal.pbio.0060236 · Cited by 202
Eye colour: portals into pigmentation genes and ancestry
Sturm, R. A. (2004) · Trends in Genetics · doi:10.1016/j.tig.2004.06.010 · Cited by 199
Indirect fitness consequences of mate choice in sticklebacks: offspring of brighter males grow slowly but resist parasitic infections
Barber, I., Arnott, S. A., Braithwaite, V. A., Andrew, J., & Huntingford, F. A. (2001) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rspb.2000.1331 · Cited by 196
Different genes underlie adaptive melanism in different populations of rock pocket mice
Hoekstra, H. E., & Nachman, M. W. (2003) · Molecular Ecology · doi:10.1046/j.1365-294x.2003.01788.x · Cited by 193
Nuclear Gene Indicates Coat-Color Polymorphism in Mammoths
Römpler, H., Rohland, N., Lalueza‐Fox, C., Willerslev, E., Kuznetsova, T. V., Rabeder, G., Bertranpetit, J., Schöneberg, T., & Hofreiter, M. (2006) · Science · doi:10.1126/science.1128994 · Cited by 191
Self-citation
The Melanocortin System in Fugu: Determination of POMC/AGRP/MCR Gene Repertoire and Synteny, As Well As Pharmacology and Anatomical Distribution of the MCRs
Kloviņš, J., Haitina, T., Frīdmanis, D., Kilianova, Z., Kāpa, I., Fredriksson, R., Gallo‐Payet, N., & Schiöth, H. B. (2004) · Molecular Biology and Evolution · doi:10.1093/molbev/msh050 · Cited by 173
The Melanocortin-1 Receptor
Schaffer, J. V., & Bolognia, J. L. (2001) · Archives of Dermatology · doi:10.1001/archderm.137.11.1477 · Cited by 155
Water turbidity by algal blooms causes mating system breakdown in a shallow-water fish, the sand goby Pomatoschistus minutus
Järvenpää, M., & Lindström, K. (2004) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rspb.2004.2870 · Cited by 150
Genetic risk factors for melanoma
Meyle, K. D., & Guldberg, P. (2009) · Human Genetics · doi:10.1007/s00439-009-0715-9 · Cited by 147
Molecular Pathogenesis of Cutaneous Melanocytic Neoplasms
Ibrahim, N., & Haluska, F. G. (2008) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev.pathol.3.121806.151541 · Cited by 144
Female mate choice and male red coloration in a natural three-spined stickleback (Gasterosteus aculeatus) population
Bakker, T. C. M., & Mundwiler, B. (1994) · Behavioral Ecology · doi:10.1093/beheco/5.1.74 · Cited by 144
Allelic Heterogeneity at the Equine KIT Locus in Dominant White (W) Horses
Haase, B., Brooks, S. A., Schlumbaum, A., Azor, P. J., Bailey, E., Alaeddine, F., Mevissen, M., Burger, D., Poncet, P.-A., Rieder, S., et al. (2007) · PLoS Genetics · doi:10.1371/journal.pgen.0030195 · Cited by 143
Genetic architecture of tameness in a rat model of animal domestication
Albert, F. W., Carlborg, O., Plyusnina, I., Besnier, F., Hedwig, D., Lautenschläger, S., Lorenz, D., McIntosh, J., Neumann, C., Richter, H., et al. (2009) · Genetics · doi:10.1534/genetics.109.102186 · Cited by 136
Melanism in Peromyscus Is Caused by Independent Mutations in Agouti
Kingsley, E. P., Manceau, M., Wiley, C. D., & Hoekstra, H. E. (2009) · PLoS ONE · doi:10.1371/journal.pone.0006435 · Cited by 130
Possible role of female discrimination against ‘redundant’ males in the evolution of colour pattern polymorphism in guppies
Eakley, A. L., & Houde, A. E. (2004) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rsbl.2004.0165 · Cited by 124
Gene Structure of the Goldfish Agouti-Signaling Protein: A Putative Role in the Dorsal-Ventral Pigment Pattern of Fish
Cerdá‐Reverter, J. M., Haitina, T., Schiöth, H. B., & Peter, R. E. (2005) · Endocrinology · doi:10.1210/en.2004-1346 · Cited by 120
Preservation of Eumelanin Hair Pigmentation in Proopiomelanocortin-Deficient Mice on a Nonagouti (a/a) Genetic Background
Slominski, A. T., Plonka, P. M., Pisarchik, A. V., Smart, J. L., Tolle, V., Wortsman, J., & Low, M. J. (2004) · Endocrinology · doi:10.1210/en.2004-0733 · Cited by 116
Population-Based Study of Natural Variation in the Melanocortin-1 Receptor Gene and Melanoma
Kanetsky, P. A., Rebbeck, T. R., Hummer, A., Panossian, S., Armstrong, B. K., Kricker, A., Marrett, L. D., Millikan, R. C., Gruber, S. B., Culver, H. A., et al. (2006) · Cancer Research · doi:10.1158/0008-5472.can-06-1634 · Cited by 114
Dedicated Epithelial Recipient Cells Determine Pigmentation Patterns
Weiner, L., Han, R., Scicchitano, B. M., Li, J., Hasegawa, K., Grossi, M., Lee, D., & Brissette, J. L. (2007) · Cell · doi:10.1016/j.cell.2007.07.024 · Cited by 113
Evolution of an avian pigmentation gene correlates with a measure of sexual selection
Nadeau, N. J., Burke, T. A., & Mundy, N. I. (2007) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rspb.2007.0174 · Cited by 109
Adaptive Coloration in Peromyscus polionotus: Experimental Selection by Owls
Kaufman, D. W. (1974) · Journal of Mammalogy · doi:10.2307/1378997 · Cited by 103
Concordant evolution of plumage colour, feather microstructure and a melanocortin receptor gene between mainland and island populations of a fairy–wren
Doucet, S. M., Shawkey, M. D., Rathburn, M. K., Mays, H. L., & Montgomerie, R. (2004) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rspb.2004.2779 · Cited by 101
Assortative mating in lesser snow geese (Anser caerulescens)
Cooke, F., Finney, G., & Rockwell, R. F. (1976) · Behavior Genetics · doi:10.1007/bf01067143 · Cited by 95
Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1
Incerti, B. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.19.2781 · Cited by 93
Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism
Schiaffino, M. V., Bassi, M. T., Galli, L., Renieri, A., Bruttini, M., de Nigris, F., Bergen, A. A. B., Charles, S., Yates, J. R. W., Meindl, A., et al. (1995) · Human Molecular Genetics · doi:10.1093/hmg/4.12.2319 · Cited by 84
Molecular biology and physiology of the melanocortin system in fish: A review
Metz, J. R., Peters, J. J. M., & Flik, G. (2006) · General and Comparative Endocrinology · doi:10.1016/j.ygcen.2006.03.001 · Cited by 84
Physiologically induced color-pattern changes in butterfly wings: Mechanistic and evolutionary implications
Otaki, J. M. (2008) · Journal of Insect Physiology · doi:10.1016/j.jinsphys.2008.05.006 · Cited by 84
Evolution of melanocortin receptors in teleost fish: The melanocortin type 1 receptor
Selz, Y., Braasch, I., Hoffmann, C., Schmidt, C., Schultheis, C., Schartl, M., & Volff, J. (2007) · Gene · doi:10.1016/j.gene.2007.07.005 · Cited by 84
Carotenoid availability affects the development of a colour-based mate preference and the sensory bias to which it is genetically linked
Grether, G. F., Kolluru, G. R., Rodd, F. H., de la Cerda, J., & Shimazaki, K. (2005) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rspb.2005.3197 · Cited by 84
Studies of mammalian ecology in southwestern North America with special attention to the colors of desert mammals
Dice, L. R., & Blossom, P. M. (1937) · Cited by 81
Biochemical and Genetic Studies of Pigment‐Type Switching
Barsh, G. S., Gunn, T. M., HE, L., Schlossman, S. F., & Duke‐Cohan, J. S. (2000) · Pigment Cell Research · doi:10.1034/j.1600-0749.13.s8.10.x · Cited by 80
Aggressive biases towards similarly coloured males in Lake Malawi cichlid fishes
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Self-citation

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Authors: Hofreiter, M., & Schöneberg, T.
Affiliations: University of York (GB)
Leipzig University (DE)
Corresponding author: Hofreiter, Michael
ORCID: Hofreiter, Michael
Schöneberg, Torsten
Venue: Cellular and Molecular Life Sciences
Publisher: Springer Science and Business Media LLC
Published: 2010-03-14
Volume: 67
Issue: 15
Pages: 2591-2603
ISSN: 1420-682X (ISSN-L)
1420-9071
DOI: 10.1007/s00018-010-0333-7
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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The genetic and evolutionary basis of colour variation in vertebrates

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