hair color


Summary: Color of hair or fur.

Top Publications

  1. Menotti Raymond M, David V, Eizirik E, Roelke M, Ghaffari H, O Brien S. Mapping of the domestic cat "SILVER" coat color locus identifies a unique genomic location for silver in mammals. J Hered. 2009;100 Suppl 1:S8-13 pubmed publisher
  2. Branicki W, Brudnik U, Draus Barini J, Kupiec T, Wojas Pelc A. Association of the SLC45A2 gene with physiological human hair colour variation. J Hum Genet. 2008;53:966-71 pubmed publisher
    ..Our results indicate that the rare allele L374 significantly increases the possibility of having black hair colour (OR = 7.05) and thus may be considered as a future marker for black hair colour prediction. ..
  3. Karlsson E, Baranowska I, Wade C, Salmon Hillbertz N, Zody M, Anderson N, et al. Efficient mapping of mendelian traits in dogs through genome-wide association. Nat Genet. 2007;39:1321-8 pubmed
  4. Sulem P, Gudbjartsson D, Stacey S, Helgason A, Rafnar T, Magnusson K, et al. Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat Genet. 2007;39:1443-52 pubmed
    ..A variant in SLC24A4 is associated with eye and hair color, a variant near KITLG is associated with hair color, two coding variants in TYR are associated with eye color ..
  5. Raimondi S, Sera F, Gandini S, Iodice S, Caini S, Maisonneuve P, et al. MC1R variants, melanoma and red hair color phenotype: a meta-analysis. Int J Cancer. 2008;122:2753-60 pubmed publisher
    ..These results suggest that MC1R variants could play a role in melanoma development both via pigmentary and non-pigmentary pathways. ..
  6. Fargnoli M, Fargnoli M, Pike K, Pfeiffer R, Tsang S, Rozenblum E, et al. MC1R variants increase risk of melanomas harboring BRAF mutations. J Invest Dermatol. 2008;128:2485-90 pubmed publisher
    ..1-23.8) that increased with the number of MC1R variants and variants associated with red hair color. Combining these subjects with the originally reported Italian population (513 subjects overall), MC1R variant ..
  7. Mengel From J, WONG T, Morling N, Rees J, Jackson I. Genetic determinants of hair and eye colours in the Scottish and Danish populations. BMC Genet. 2009;10:88 pubmed publisher
    ..We have found novel associations with SNPs in known pigmentation genes and colorimetrically assessed hair colour in a Scottish and a Danish population. ..
  8. Vanover J, Spry M, Hamilton L, Wakamatsu K, Ito S, D Orazio J. Stem cell factor rescues tyrosinase expression and pigmentation in discreet anatomic locations in albino mice. Pigment Cell Melanoma Res. 2009;22:827-38 pubmed publisher
    ..These findings suggest that c-kit signaling can overcome the c2j Tyr mutation in the ears and tails of aging animals and that UV resistance depends on accumulation of epidermal eumelanin. ..
  9. Roberts D, Newton R, Leonard J, Sturm R. Melanocytes expressing MC1R polymorphisms associated with red hair color have altered MSH-ligand activated pigmentary responses in coculture with keratinocytes. J Cell Physiol. 2008;215:344-55 pubmed
    ..coculture system to study the behavior and functional abilities of melanocytes expressing MC1R red hair color (RHC) variants in order to identify differences from their wild type (WT) counterparts...

More Information


  1. Andersson L, Axelsson J, Dubielzig R, Lindgren G, Ekesten B. Multiple congenital ocular anomalies in Icelandic horses. BMC Vet Res. 2011;7:21 pubmed publisher
    ..For that reason we have examined another horse breed, the Icelandic horse, which is historically quite divergent from Rocky Mountain horses...
  2. Kumano K, Masuda S, Sata M, Saito T, Lee S, Sakata Yanagimoto M, et al. Both Notch1 and Notch2 contribute to the regulation of melanocyte homeostasis. Pigment Cell Melanoma Res. 2008;21:70-8 pubmed publisher
    ..we confirmed that Notch1+/-Notch2+/- double heterozygous mice with a C57/Bl6 background were born with a normal hair color phenotype and gradually turned gray after the second hair cycle, in the c-kit mutant Wv background, Notch1+/- ..
  3. Alizadeh A, Hong L, Kaelin C, Raudsepp T, Manuel H, Barsh G. Genetics of Sex-linked yellow in the Syrian hamster. Genetics. 2009;181:1427-36 pubmed publisher
  4. Mao H, Ren J, Ding N, Xiao S, Huang L. Genetic variation within coat color genes of MC1R and ASIP in Chinese brownish red Tibetan pigs. Anim Sci J. 2010;81:630-4 pubmed publisher
    ..Nearly all pigs were GG homozygotes. In conclusion, no functional variant responsible for brownish red coloration was found in the coding region of MC1R and ASIP in Tibetan pigs. ..
  5. Aoki H, Hara A, Motohashi T, Kunisada T. Protective effect of Kit signaling for melanocyte stem cells against radiation-induced genotoxic stress. J Invest Dermatol. 2011;131:1906-15 pubmed publisher
    ..Endothelin 3, another growth and differentiation factor for melanocytes, showed a lesser radioprotective effect compared with Kitl. These results indicate the prevention of radiation-induced hair graying by Kit signaling. ..
  6. Vaughn M, van Oorschot R, Baindur Hudson S. Hair color measurement and variation. Am J Phys Anthropol. 2008;137:91-6 pubmed publisher
    ..In every investigation, hair color must first be defined by the researchers...
  7. Sturm R. Molecular genetics of human pigmentation diversity. Hum Mol Genet. 2009;18:R9-17 pubmed publisher
    ..From a culmination of genetic and functional studies, it is apparent that a number of genes impacting melanosome biogenesis or the melanin biosynthetic pathway are candidates to explain the diversity seen in human pigmentation. ..
  8. Hauswirth R, Haase B, Blatter M, Brooks S, Burger D, Drogemuller C, et al. Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses. PLoS Genet. 2012;8:e1002653 pubmed publisher
    ..Thus, several independent mutations in MITF and PAX3 together with known variants in the EDNRB and KIT genes explain a large proportion of horses with the more extreme white spotting phenotypes. ..
  9. Voracek M, Bagdonas A, Dressler S. Digit ratio (2D:4D) in Lithuania once and now: testing for sex differences, relations with eye and hair color, and a possible secular change. Coll Antropol. 2007;31:863-8 pubmed
    ..expected direction in both samples; (iii) a previously adduced hypothesis of an association of lighter eye and hair color with higher, i.e...
  10. Rosengren Pielberg G, Golovko A, Sundström E, Curik I, Lennartsson J, Seltenhammer M, et al. A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse. Nat Genet. 2008;40:1004-9 pubmed publisher
    ..The Gray horse provides a notable example of how humans have cherry-picked mutations with favorable phenotypic effects in domestic animals. ..
  11. Mitra D, Luo X, Morgan A, Wang J, Hoang M, Lo J, et al. An ultraviolet-radiation-independent pathway to melanoma carcinogenesis in the red hair/fair skin background. Nature. 2012;491:449-53 pubmed publisher
    ..Although protection from ultraviolet radiation remains important, additional strategies may be required for optimal melanoma prevention. ..
  12. Goldstein A, Chaudru V, Ghiorzo P, Badenas C, Malvehy J, Pastorino L, et al. Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries. Int J Cancer. 2007;121:825-31 pubmed
    ..We evaluated 76 G101W cases and 59 carrier controls from France, Italy, Spain, and the United States. Hair color and dysplastic nevi distributions differed significantly in cases and controls across the 4 study groups...
  13. Sommerlad S, McRae A, McDonald B, Johnstone I, Cuttell L, Seddon J, et al. Congenital sensorineural deafness in Australian stumpy-tail cattle dogs is an autosomal recessive trait that maps to CFA10. PLoS ONE. 2010;5:e13364 pubmed publisher
    ..Deafness in ASCD is an incompletely penetrant autosomal recessive inherited disease that maps to CFA10. ..
  14. Demenais F, Mohamdi H, Chaudru V, Goldstein A, Newton Bishop J, Bishop D, et al. Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study. J Natl Cancer Inst. 2010;102:1568-83 pubmed publisher
    ..V92M, R151C, and R160W) and the number of variants (1, ?2 variants), alone or jointly with the host phenotypes (hair color, propensity to sunburn, and number of nevi), with melanoma risk in CDKN2A mutation carriers...
  15. Schmidt Küntzel A, Nelson G, David V, Schäffer A, Eizirik E, Roelke M, et al. A domestic cat X chromosome linkage map and the sex-linked orange locus: mapping of orange, multiple origins and epistasis over nonagouti. Genetics. 2009;181:1415-25 pubmed publisher
    ..5 Mb and suggested multiple origins for the orange phenotype in the domestic cat. Furthermore, epistasis of orange over nonagouti was demonstrated at the genetic level. ..
  16. Linnen C, Kingsley E, Jensen J, Hoekstra H. On the origin and spread of an adaptive allele in deer mice. Science. 2009;325:1095-8 pubmed publisher
    ..These findings reveal one means by which genetic, developmental, and evolutionary mechanisms can drive rapid adaptation under ecological pressure. ..
  17. Fontanesi L, Beretti F, Riggio V, Dall Olio S, González E, Finocchiaro R, et al. Missense and nonsense mutations in melanocortin 1 receptor (MC1R) gene of different goat breeds: association with red and black coat colour phenotypes but with unexpected evidences. BMC Genet. 2009;10:47 pubmed publisher
    ..In particular, the surprising not complete association of the nonsense mutation (p.Q225X) with red coat colour raises a few hypotheses on the determination of pheomelanic phenotypes in goats that should be further investigated. ..
  18. Kiiski V, De Vries E, Flohil S, Bijl M, Hofman A, Stricker B, et al. Risk factors for single and multiple basal cell carcinomas. Arch Dermatol. 2010;146:848-55 pubmed publisher
    ..To investigate the incidence of single and multiple basal cell carcinoma (BCC) lesions and associated risk factors...
  19. Kerns J, Cargill E, Clark L, Candille S, Berryere T, Olivier M, et al. Linkage and segregation analysis of black and brindle coat color in domestic dogs. Genetics. 2007;176:1679-89 pubmed
    ..These findings suggest a molecular model for a new component of the melanocortin signaling pathway and reveal how coat-color patterns and pigmentary diversity have been shaped by recent selection. ..
  20. Hwang K, Cho S, Lee S, Park J, Kwon D, Choi Y, et al. Depigmentation of skin and hair color in the somatic cell cloned pig. Dev Dyn. 2009;238:1701-8 pubmed publisher
    ..Among these clones, one showed distinct depigmentation of the skin and hair color during puberty...
  21. Mengel From J, Børsting C, Sanchez J, Eiberg H, Morling N. Determination of cis/trans phase of variations in the MC1R gene with allele-specific PCR and single base extension. Electrophoresis. 2008;29:4780-7 pubmed publisher
    ..In all 62 individuals, the MC1R variants were situated in trans position. Another 18 individuals with red hair colour were either genotyped R/- or R/r, suggesting that other genes influence hair colour. ..
  22. Badger T, Ronis M, Wolff G, Stanley S, Ferguson M, Shankar K, et al. Soy protein isolate reduces hepatosteatosis in yellow Avy/a mice without altering coat color phenotype. Exp Biol Med (Maywood). 2008;233:1242-54 pubmed publisher
  23. Branicki W, Liu F, van Duijn K, Draus Barini J, Pośpiech E, Walsh S, et al. Model-based prediction of human hair color using DNA variants. Hum Genet. 2011;129:443-54 pubmed publisher
    ..Here, we demonstrate that human hair color is predictable from DNA variants with similarly high accuracies...
  24. Royo L, Alvarez I, Arranz J, Fern ndez I, Rodr guez A, P rez Pardal L, et al. Differences in the expression of the ASIP gene are involved in the recessive black coat colour pattern in sheep: evidence from the rare Xalda sheep breed. Anim Genet. 2008;39:290-3 pubmed publisher
  25. Candille S, Kaelin C, Cattanach B, Yu B, Thompson D, Nix M, et al. A -defensin mutation causes black coat color in domestic dogs. Science. 2007;318:1418-23 pubmed
    ..These results expand the functional role of beta-defensins, a protein family previously implicated in innate immunity, and identify an additional class of ligands for signaling through melanocortin receptors. ..
  26. Reissmann M, Bierwolf J, Brockmann G. Two SNPs in the SILV gene are associated with silver coat colour in ponies. Anim Genet. 2007;38:1-6 pubmed
    ..697T; g.1457T] haplotype, but they showed no phenotypic effect. The white or flaxen mane often detected in chestnuts is presumably based on another SILV mutation or on polymorphisms in other genes. ..
  27. Liu F, Struchalin M, Duijn K, Hofman A, Uitterlinden A, Duijn C, et al. Detecting low frequent loss-of-function alleles in genome wide association studies with red hair color as example. PLoS ONE. 2011;6:e28145 pubmed publisher
    ..We provide the proof of principle by conducting a genome-wide CDH analysis of red hair color, a trait known to be influenced by multiple loss-of-function alleles, in a total of 7,732 Dutch individuals with ..
  28. Anistoroaei R, Krogh A, Christensen K. A frameshift mutation in the LYST gene is responsible for the Aleutian color and the associated Chédiak-Higashi syndrome in American mink. Anim Genet. 2013;44:178-83 pubmed publisher
    ..Molecular findings at the LYST locus enable the development of genetic tests for analyzing the color selection in American mink...
  29. Gratten J, Pilkington J, Brown E, Beraldi D, Pemberton J, Slate J. The genetic basis of recessive self-colour pattern in a wild sheep population. Heredity (Edinb). 2010;104:206-14 pubmed publisher
  30. Branicki W, Brudnik U, Kupiec T, Wolańska Nowak P, Wojas Pelc A. Determination of phenotype associated SNPs in the MC1R gene. J Forensic Sci. 2007;52:349-54 pubmed a significant association between some genetic variants of the melanocortin 1 receptor (MC1R) gene and red hair color. The present study focuses on the potential forensic applicability of variation within this pigment-related gene...
  31. Han J, Kraft P, Nan H, Guo Q, Chen C, Qureshi A, et al. A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genet. 2008;4:e1000074 pubmed publisher
    We conducted a multi-stage genome-wide association study of natural hair color in more than 10,000 men and women of European ancestry from the United States and Australia...
  32. Beaumont K, Shekar S, Cook A, Duffy D, Sturm R. Red hair is the null phenotype of MC1R. Hum Mutat. 2008;29:E88-94 pubmed publisher
    ..We report here the first case of a homozygous MC1R null individual, phenotypic analysis indicates that red hair and fair skin is found in the absence of MC1R function. ..
  33. Wood J, Decker H, Hartmann H, Chavan B, Rokos H, Spencer J, et al. Senile hair graying: H2O2-mediated oxidative stress affects human hair color by blunting methionine sulfoxide repair. FASEB J. 2009;23:2065-75 pubmed publisher evidenced by FT-Raman spectroscopy, computer simulation, and enzyme kinetics, which leads to gradual loss of hair color. Notably, under in vitro conditions, Met oxidation can be prevented by L-methionine...
  34. Grahn B, Pinard C, Archer S, Bellone R, Forsyth G, Sandmeyer L. Congenital ocular anomalies in purebred and crossbred Rocky and Kentucky Mountain horses in Canada. Can Vet J. 2008;49:675-81 pubmed
    ..A pedigree analysis confirms a dominant mode of inheritance with incomplete penetrance and with a linkage to coat color...
  35. Gao X, Simon K, Han J, Schwarzschild M, Ascherio A. Genetic determinants of hair color and Parkinson's disease risk. Ann Neurol. 2009;65:76-82 pubmed publisher
    A history of melanoma is associated with increased risks for Parkinson's disease (PD). We examined whether hair color, one of the most important phenotypes of pigmentation and a risk factor for melanoma, was associated with PD risk in the ..
  36. Mundy N. Coloration and the genetics of adaptation. PLoS Biol. 2007;5:e250 pubmed
  37. Binkley C, Beacham A, Neace W, Gregg R, Liem E, Sessler D. Genetic variations associated with red hair color and fear of dental pain, anxiety regarding dental care and avoidance of dental care. J Am Dent Assoc. 2009;140:896-905 pubmed
    Red hair color is caused by variants of the melanocortin-1 receptor (MC1R) gene. People with naturally red hair are resistant to subcutaneous local anesthetics and, therefore, may experience increased anxiety regarding dental care...
  38. Shekar S, Duffy D, Frudakis T, Sturm R, Zhao Z, Montgomery G, et al. Linkage and association analysis of spectrophotometrically quantified hair color in Australian adolescents: the effect of OCA2 and HERC2. J Invest Dermatol. 2008;128:2807-14 pubmed publisher
    Genetic studies of pigmentation have benefited from spectrophotometric measures of light-dark hair color. Here we use one of those measures, absorbance at 650 nm, to look for chromosomal regions that harbor genes affecting hair ..
  39. Brudnik U, Branicki W, Wojas Pelc A, Kanas P. The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population. Exp Dermatol. 2009;18:167-74 pubmed publisher
    ..Further research is necessary, especially involving analysis of interactions between variation in MC1R and other genes, to find out if analysis of MC1R polymorphisms could be of any importance for skin cancer prevention. ..
  40. Cuellar F, Puig S, Kolm I, Puig Butille J, Zaballos P, Marti Laborda R, et al. Dermoscopic features of melanomas associated with MC1R variants in Spanish CDKN2A mutation carriers. Br J Dermatol. 2009;160:48-53 pubmed publisher
    ..Further studies are necessary to confirm our suggestion. ..
  41. Rees J. Vexed by red-headed conundrums. J Invest Dermatol. 2010;130:1771-3 pubmed publisher
    ..describe their use of mouse transgenics to demonstrate that the MC1R signaling pathway influences cancer risk via mechanisms in addition to pigmentation. ..
  42. Valenzuela R, Henderson M, Walsh M, Garrison N, Kelch J, Cohen Barak O, et al. Predicting phenotype from genotype: normal pigmentation. J Forensic Sci. 2010;55:315-22 pubmed publisher
    ..Thus, these models may be of predictive value to determine an individual's pigmentation type from a forensic sample, independent of ethnic origin. ..
  43. Nan H, Kraft P, Hunter D, Han J. Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. Int J Cancer. 2009;125:909-17 pubmed publisher
    ..pigmentation genes (TYR, TYRP1, OCA2, SLC24A5, SLC45A2, POMC, ASIP and ATRN) and both pigmentary phenotypes (hair color, skin color and tanning ability) and skin cancer risk in a nested case-control study of Caucasians within the ..
  44. Haase B, Brooks S, Tozaki T, Burger D, Poncet P, Rieder S, et al. Seven novel KIT mutations in horses with white coat colour phenotypes. Anim Genet. 2009;40:623-9 pubmed publisher
    ..2684+1G>A). White phenotypes in horses show a remarkable allelic heterogeneity. In fact, a higher number of alleles are molecularly characterized at the equine KIT gene than for any other known gene in livestock species. ..
  45. Anderson T, VonHoldt B, Candille S, Musiani M, Greco C, Stahler D, et al. Molecular and evolutionary history of melanism in North American gray wolves. Science. 2009;323:1339-43 pubmed publisher
  46. Kanetsky P, Panossian S, Elder D, Guerry D, Ming M, Schuchter L, et al. Does MC1R genotype convey information about melanoma risk beyond risk phenotypes?. Cancer. 2010;116:2416-28 pubmed publisher
    ..These data indicate that MC1R genotypes provide information about melanoma risk in those individuals who would not be identified as high risk based on their phenotypes or exposures alone. ..
  47. Clement K, Dubern B, Mencarelli M, Czernichow P, Ito S, Wakamatsu K, et al. Unexpected endocrine features and normal pigmentation in a young adult patient carrying a novel homozygous mutation in the POMC gene. J Clin Endocrinol Metab. 2008;93:4955-62 pubmed publisher
    ..Surprisingly, there were no obvious pigmentary features; neither the hair color nor measurements of skin reflectance distinguished between the patient and unaffected family members...
  48. Ludwig A, Pruvost M, Reissmann M, Benecke N, Brockmann G, Castaños P, et al. Coat color variation at the beginning of horse domestication. Science. 2009;324:485 pubmed publisher
    ..We conclude that it is unlikely that horse domestication substantially predates the occurrence of coat color variation, which was found to begin around the third millennium before the common era. ..
  49. Kaelin C, Xu X, Hong L, David V, McGowan K, Schmidt K ntzel A, et al. Specifying and sustaining pigmentation patterns in domestic and wild cats. Science. 2012;337:1536-41 pubmed publisher
    ..We propose a two-stage model in which Taqpep helps to establish a periodic pre-pattern during skin development that is later implemented by differential expression of Edn3...
  50. Kastelic V, Drobnic K. A single-nucleotide polymorphism (SNP) multiplex system: the association of five SNPs with human eye and hair color in the Slovenian population and comparison using a Bayesian network and logistic regression model. Croat Med J. 2012;53:401-8 pubmed
    To analyze two phenotype characteristics--eye and hair color--using single-nucleotide polymorphisms (SNPs) and evaluate their prediction accuracy in Slovenian population...
  51. Scherer D, Nagore E, Bermejo J, Figl A, Botella Estrada R, Thirumaran R, et al. Melanocortin receptor 1 variants and melanoma risk: a study of 2 European populations. Int J Cancer. 2009;125:1868-75 pubmed publisher
    ..In conclusion, our data underscored the unambiguous importance of the MC1R variants towards the population burden of melanoma. However, the variants that are associated with the disease differ between the investigated populations. ..
  52. Branicki W, Brudnik U, Wojas Pelc A. Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype. Ann Hum Genet. 2009;73:160-70 pubmed publisher
    ..Finally, using various approaches we were able to show that there is an interaction between MC1R and HERC2 in determination of skin and hair colour in the studied population sample. ..
  53. Schmutz S, Berryere T. Genes affecting coat colour and pattern in domestic dogs: a review. Anim Genet. 2007;38:539-49 pubmed
    ..Because coat colour is such a visible trait, this information will also be a valuable teaching resource. ..