OMIA 001199-9823 : Coat colour, extension in Sus scrofa

See the equivalent entry at NCBI

In other species: , coyote , dog , red fox , American black bear , domestic cat , jaguar , horse , reindeer , cattle , goat , sheep , rabbit , domestic guinea pig , domestic yak , alpaca , gray squirrel , woolly mammoth , rock pocket mouse , oldfield mouse , lesser earless lizard , Geoffroy's cat , Kodkod , jaguarundi , Colocolo , little striped whiptail , water buffalo , Arctic fox

Possible human homologue (MIM number): 266300

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: no

Key mutation known: yes

Year key mutation first reported: 1998

Cross-species summary: The extension locus encodes the melanocyte-stimulating hormone receptor (MSHR; also known as MC1R). This receptor controls the level of tyrosinase within melanocytes. Tyrosinase is the limiting enzyme involved in synthesis of melanins: high levels of tyrosinase result in the production of eumelanin (dark colour, e.g. brown or black), while low levels result in the production of phaeomelanin (light colour, e.g. red or yellow). When melanocyte-stimulating hormone (MSH) binds to its receptor, the level of tyrosinase is increased, leading to production of eumelanin. The wild-type allele at the extension locus corresponds to a functional MSHR, and hence to dark pigmentation in the presence of MSH.

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on recent discoveries of the molecular basis of the Extension coat-colour locus in cattle, horses, foxes and chickens), Kijas et al. (1998) identified four different missense mutations in the porcine MC1R gene, and showed their correspondence with documented alleles at the porcine Extension (E) locus:

T296C; p.Leu99Pro: dominant black in Asian pigs (E^D1)

G361A; p.Asp121Asn: dominant black in European pigs (E^D2)

C491T + G727A; p.Ala164Val + Ala243Thr: red (e)

Kijas et al. (2001) added another allele: nt67insCC (Codon 23): black spotting on red or white background (E^P)

Since then, many other alleles have been documented.

(from Table 4 of Switonski et al., 2013)

Linderholm et al. (2016) reported a new haplotype (0601) for black.

Wu et al. (2017) "found 2 haplotypes, E^QY and E^qy, from 13 closely linked mutations of MC1R" and "E^qy presented a recessive inheritance mode in black spotted Qingyu pigs"

Jia et al. (2017) reported a likely causal variant for recessive white in Bama miniature pigs: "A 2-bp CC insertion mutation (c.67_68insCC) was identified and co-segregated with the mutant phenotype completely . . . . This CC insertion at codon 23 results in a frameshift mutation (p.Arg23ProfsTer33) that produces a prematurely terminated, nonfunctional receptor."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) Sus scrofa 6 NC_010448.4 (182187..181225) MC1R Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Red MC1R missense p.A161V 1998 9799269
Red MC1R missense p.A243T 1998 9799269
Dominant black MC1R missense c.296T>C p.L99P 1998 9799269
Dominant black MC1R missense c.361G>A p. D121N 1998 9799269
Bama miniature Recessive white MC1R insertion, small (<=20) 6 c.67_68insCC p.Arg23ProfsTer33 2017 28411032
Coat colour, black spotting on red or white background MC1R insertion, small (<=20) nt67insCC 2001 11404341

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2017 Jia, Q., Cao, C., Tang, H., Zhang, Y., Zheng, Q., Wang, X., Zhang, R., Wang, X., Luo, A., Wei, H., Meng, A., Zhou, Q., Wang, H., Zhao, J. :
A 2-bp insertion (c.67_68insCC) in MC1R causes recessive white coat color in Bama miniature pigs. J Genet Genomics 44:215-217, 2017. Pubmed reference: 28411032. DOI: 10.1016/j.jgg.2017.02.003.
Wu, X., Tan, Z., Shen, L., Yang, Q., Cheng, X., Liao, K., Bai, L., Shuai, S., Li, M., Li, X., Zhang, S., Zhu, L. :
Coat colour phenotype of Qingyu pig is associated with polymorphisms of melanocortin receptor 1 gene. Asian-Australas J Anim Sci 30:938-943, 2017. Pubmed reference: 28002929. DOI: 10.5713/ajas.16.0376.
2016 Linderholm, A., Spencer, D., Battista, V., Frantz, L., Barnett, R., Fleischer, R.C., James, H.F., Duffy, D., Sparks, J.P., Clements, D.R., Andersson, L., Dobney, K., Leonard, J.A., Larson, G. :
A novel MC1R allele for black coat colour reveals the Polynesian ancestry and hybridization patterns of Hawaiian feral pigs. R Soc Open Sci 3:160304, 2016. Pubmed reference: 27703696. DOI: 10.1098/rsos.160304.
2013 Switonski, M., Mankowska, M., Salamon, S. :
Family of melanocortin receptor (MCR) genes in mammals-mutations, polymorphisms and phenotypic effects. J Appl Genet 54:461-72, 2013. Pubmed reference: 23996627. DOI: 10.1007/s13353-013-0163-z.
2010 Li, J., Yang, H., Li, JR., Li, HP., Ning, T., Pan, XR., Shi, P., Zhang, YP. :
Artificial selection of the melanocortin receptor 1 gene in Chinese domestic pigs during domestication. Heredity :, 2010. Pubmed reference: 20179735. DOI: 10.1038/hdy.2009.191.
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 81:630-4, 2010. Pubmed reference: 21108681. DOI: 10.1111/j.1740-0929.2010.00789.x.
2009 Andersson, L. :
Studying phenotypic evolution in domestic animals: a walk in the footsteps of Charles Darwin. Cold Spring Harb Symp Quant Biol 74:319-25, 2009. Pubmed reference: 20375320. DOI: 10.1101/sqb.2009.74.039.
Fang, M., Larson, G., Ribeiro, HS., Li, N., Andersson, L. :
Contrasting mode of evolution at a coat color locus in wild and domestic pigs. PLoS Genet 5:e1000341, 2009. Pubmed reference: 19148282. DOI: 10.1371/journal.pgen.1000341.
2007 D'Alessandro, E., Fontanesi, L., Liotta, L., Davoli, R., Chiofalo, V., Russo, V. :
Analysis of the MC1R gene in the Nero Siciliano pig breed and usefulness of this locus for breed traceability. Vet Res Commun 31 Suppl 1:389-92, 2007. Pubmed reference: 17682921. DOI: 10.1007/s11259-007-0063-y.
Dun, G., Li, X., Cao, H., Zhou, R., Li, L. :
Variations of melanocortin receptor 1 (MC1R) gene in three pig breeds. J Genet Genomics 34:777-82, 2007. Pubmed reference: 17884687. DOI: 10.1016/S1673-8527(07)60088-5.
Lai, F., Ren, J., Ai, H., Ding, N., Ma, J., Zeng, D., Chen, C., Guo, Y., Huang, L. :
Chinese White Rongchang Pig Does Not Have the Dominant White Allele of KIT but Has the Dominant Black Allele of MC1R. J Hered 98:84-87, 2007. Pubmed reference: 17150979. DOI: 10.1093/jhered/esl053.
2006 Shi, KR., Wang, AG., Yuan, XF., Deng, XM., Li, N. :
Analysis of the MC1R, KIT and ASIP loci in Chinese and European pigs. Anim Genet 37:300-2, 2006. Pubmed reference: 16734703. DOI: 10.1111/j.1365-2052.2006.01446.x.
2004 Shi, K., Wang, A., Li, N., Deng, X. :
Single nucleotide polymorphism analysis on melanocortin receptor 1 (MC1R) of Chinese native pig. Sci China C Life Sci 47:287-92, 2004. Pubmed reference: 15524286.
2003 Andersson, L. :
Melanocortin receptor variants with phenotypic effects in horse, pig, and chicken Annals of the New York Academy of Sciences 994:313-8, 2003. Pubmed reference: 12851331.
Deng, SH., Gao, J., Ren, J., Chen, KF., Ding, NS., Ai, HS., Lin, WH., Wang, WJ., Liu, BS., Lai, FJ., Huang, LS. :
[Studies of the relationship of melanocortin receptor 1(MC1R) gene with coat color phenotype in pigs] Yi Chuan Xue Bao 30:949-54, 2003. Pubmed reference: 14669512.
2001 Gustafsson, A.C., Kijas, J.M.H., Alderborn, A., Uhlen, M., Andersson, L., Lundeberg, J. :
Screening and scanning of single nucleotide polymorphisms in the pig melanocortin 1 receptor gene (MC1R) by pyrosequencing Animal Biotechnology 12:145-153, 2001. Pubmed reference: 11808630. DOI: 10.1081/ABIO-100108341.
Kijas, J.M.H., Moller, M., Plastow, G., Andersson, L. :
A frameshift mutation in MC1R and a high frequency of somatic reversions cause black spotting in pigs Genetics 158:779-785, 2001. Pubmed reference: 11404341.
1998 Kijas, J.M.H., Wales, R., Tornsten, A., Chardon, P., Moller, M., Andersson, L. :
Melanocortin receptor 1 (MC1R) mutations and coat color in pigs Genetics 150:1177-1185, 1998. Pubmed reference: 9799269.
1996 Mariani, P., Moller, M.J., Hoyheim, B., Marklund, L., Davies, W., Ellegren, H., Andersson, L. :
The extension coat color locus and the loci for blood group O and tyrosine aminotransferase are on pig chromosome 6 Journal of Heredity 87:272-276, 1996. Pubmed reference: 8776875.

Edit History


  • Created by Frank Nicholas on 01 Dec 2009
  • Changed by Frank Nicholas on 08 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 04 Sep 2012
  • Changed by Frank Nicholas on 17 Oct 2016
  • Changed by Frank Nicholas on 01 Sep 2017
  • Changed by Frank Nicholas on 02 Sep 2017