Asian-Australasian Journal of Animal Sciences

  • 제30권7호
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  • Pages.938-943
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  • 2017
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  • 1011-2367(pISSN)
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  • 1976-5517(eISSN)
아세아태평양축산학회 (Asian Australasian Association of Animal Production Societies)
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Coat colour phenotype of Qingyu pig is associated with polymorphisms of melanocortin receptor 1 gene

  • Wu, Xiaoqian (College of Animal Science and Technology, Sichuan Agricultural University) ;
  • Tan, Zhendong (College of Animal Science and Technology, Sichuan Agricultural University) ;
  • Shen, Linyuan (College of Animal Science and Technology, Sichuan Agricultural University) ;
  • Yang, Qiong (Department of Animal Husbandry and Veterinary Medicine, Chengdu Agricultural College) ;
  • Cheng, Xiao (College of Animal Science and Technology, Sichuan Agricultural University) ;
  • Liao, Kun (Pasturage Station of Tongjiang Agriculture Bbureau) ;
  • Bai, Lin (College of Animal Science and Technology, Sichuan Agricultural University) ;
  • Shuai, Surong (College of Animal Science and Technology, Sichuan Agricultural University) ;
  • Li, Mingzhou (College of Animal Science and Technology, Sichuan Agricultural University) ;
  • Li, Xuewei (College of Animal Science and Technology, Sichuan Agricultural University) ;
  • Zhang, Shunhua (College of Animal Science and Technology, Sichuan Agricultural University) ;
  • Zhu, Li (College of Animal Science and Technology, Sichuan Agricultural University)
  • 투고 : 2016.05.11
  • 심사 : 2016.12.10
  • 발행 : 2017.07.01
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초록

Objective: Qingyu pig, a Chinese indigenous pig breed, exhibits two types of coat colour phenotypes, including pure black and white with black spotting respectively. Melanocortin receptor 1 (MC1R) and agouti signaling protein (ASIP) are two widely reported pivotal genes that significantly affect the regulation of coat colour. The objectives of this study were to investigate whether the polymorphisms of these two genes are associated with coat colour and analyze the molecular mechanism of the coat colour separation in Qingyu pig. Methods: We studied the phenotype segregation and used polymerase chain reaction amplification and Sanger sequencing to investigate the polymorphism of MC1R and ASIP in 121 Qingyu pigs, consisting of 115 black and 6 white with black spotted pigs. Results: Coat colour of Qingyu pig is associated with the polymorphisms of MC1R but not ASIP. We only found 2 haplotypes, $E^{QY}$ and $E^{qy}$, based on the 13 observed mutations from MC1R gene. Among which, $E^{qy}$ presented a recessive inheritance mode in black spotted Qingyu pigs. Further analysis revealed a g.462-463CC insertion that caused a frameshift mutation and a premature stop codon, thus changed the first transmembrane domain completely and lost the remaining six transmembrane domains. Altogether, our results strongly support that the variety of Qingyu pig's coat colour is related to MC1R. Conclusion: Our findings indicated that black coat colour in Qingyu pig was dominant to white with black spotted phenotype and MC1R gene polymorphism was associated with coat colour separation in Qingyu pig.

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참고문헌

  1. Andersson L. Genetic dissection of phenotypic diversity in farm animals. Nat Rev Genet 2001;2:130-8. https://doi.org/10.1038/35052563
  2. Chandramohan B, Renieri C, La Manna V, La Terza A. The alpaca agouti gene: genomic locus, transcripts and causative mutations of eumelanic and pheomelanic coat color. Gene 2013;521:303-10. https://doi.org/10.1016/j.gene.2013.03.060
  3. Ito S, Wakamatsu K. Chemistry of mixed melanogenesis-pivotal roles of dopaquinone. Photochem Photobiol 2008;84:582-92. https://doi.org/10.1111/j.1751-1097.2007.00238.x
  4. Bonilla C, Boxill L-A, Mc Donald SA, et al. The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans. Hum Genet 2005;116:402-6. https://doi.org/10.1007/s00439-004-1251-2
  5. Norris BJ, Whan VA. A gene duplication affecting expression of the ovine ASIP gene is responsible for white and black sheep. Genome Res 2008;18:1282-93. https://doi.org/10.1101/gr.072090.107
  6. Dun G, Li X, Cao H, Zhou R, Li L. Variations of melanocortin receptor 1 (MC1R) gene in three pig breeds. J Genet Genomics 2007;34:777-82. https://doi.org/10.1016/S1673-8527(07)60088-5
  7. Canu A, Vilaca S, Iacolina L, et al. Lack of polymorphism at MC1R wild-type allele and evidence of domestic allele introgression across European wild boar populations. Mamm Biol-Zeitschrift fur Saugetierkunde 2016;81:477-9. https://doi.org/10.1016/j.mambio.2016.01.003
  8. Cieslak J, Cholewinski G, Mackowski M. Genotyping of coat color genes (MC1R, ASIP, PMEL17 and MATP) polymorphisms in coldblooded horses bred in Poland reveals sporadic mistakes in phenotypic descriptions. Anim Sci Pap Rep 2013;31.
  9. Wang G-d, Cheng L-g, Fan R-x, et al. Signature of balancing selection at the MC1R gene in Kunming dog populations. PloS one 2013;8: e55469. https://doi.org/10.1371/journal.pone.0055469
  10. Lamoreux ML, Delmas V, Larue L, Bennett DC. Pigment-type switching. The Colors of Mice: A Model Genetic Network. Oxford, UK: Wiley-Blackwell; 2010. pp. 177-206.
  11. Abitbol M, Legrand R, Tiret L. A missense mutation in the agouti signaling protein gene (ASIP) is associated with the no light points coat phenotype in donkeys. Genet Sel Evol 2015;47:28. https://doi.org/10.1186/s12711-015-0112-x
  12. Han J, Yang M, Yue Y, et al. Analysis of agouti signaling protein (ASIP) gene polymorphisms and association with coat color in Tibetan sheep (Ovis aries). Genet Mol Res 2015;14:1. https://doi.org/10.4238/2015.January.15.1
  13. Li Y, Si S, Guo P, Li L, Bai C, Yan S. Cloning and identification of the ASIP gene in Chinese raccoon dog (Nyctereutes procyonoides procyonoides). Genet Mol Res 2014;14:16312-6.
  14. Lai F, Ren J, Ai H, et al. Chinese white Rongchang pig does not have the dominant white allele of KIT but has the dominant black allele of MC1R. J Hered 2007;98:84-7.
  15. Ren J, Mao H, Zhang Z, et al. A 6-bp deletion in the TYRP1 gene causes the brown colouration phenotype in Chinese indigenous pigs. Heredity 2011;106:862-8. https://doi.org/10.1038/hdy.2010.129
  16. Wu X, Zhang Y, Shen L, et al. A 6-bp deletion in exon 8 and two mutations in introns of TYRP1 are associated with blond coat color in Liangshan pigs. Gene 2016;578:132-6. https://doi.org/10.1016/j.gene.2015.12.011
  17. Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001;68: 978-89. https://doi.org/10.1086/319501
  18. Valbonesi A, Apaza N, La Manna V, et al. Inheritance of white, black and brown coat colours in alpaca (Vicuna pacos L.). Small Rumin Res 2011;99:16-9. https://doi.org/10.1016/j.smallrumres.2011.04.003
  19. Jinlong H, Hailong H, Pei W, Yangzhi Z, Heng X. The association of MC1R gene with coat color of Banna mini-pig inbred line (BMI). J Anim Vet Adv 2012;11:503-8. https://doi.org/10.3923/javaa.2012.503.508
  20. Fontanesi L, Beretti F, Riggio V, et al. Copy number variation and missense mutations of the agouti signaling protein (ASIP) gene in goat breeds with different coat colors. Cytogenet Genome Res 2009; 126:333-47. https://doi.org/10.1159/000268089
  21. 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. https://doi.org/10.1111/j.1740-0929.2010.00789.x
  22. Drogemuller C, Giese A, Martins-Wess F, et al. The mutation causing the black-and-tan pigmentation phenotype of Mangalitza pigs maps to the porcine ASIP locus but does not affect its coding sequence. Mamm Genome 2006;17:58-66. https://doi.org/10.1007/s00335-005-0104-1
  23. Pielberg GR, Golovko A, Sundstrom E, et al. A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse. Nat Ggenet 2008;40:1004-9. https://doi.org/10.1038/ng.185
  24. Deng S, Gao J, Ren J, et al. Studies of the relationship of melanocortin receptor 1 (MC1R) gene with coat color phenotype in pigs. Acta Genet Sin 2003;30:949-54.
  25. Kijas J, Wales R, Tornsten A, et al. Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. Genetics 1998;150:1177-85.
  26. Kim S-H, Jung K, Lee H, et al. Effects of genotype mutation and coat color phenotype on the offspring from mating system of MC1R genotype patterns in Korean Brindle Cattle. J Embryo Transf 2013;28: 215-22. https://doi.org/10.12750/JET.2013.28.3.215
  27. Vage DI, Nieminen M, Anderson DG, Roed KH. Two missense mutations in melanocortin 1 receptor (MC1R) are strongly associated with dark ventral coat color in reindeer (Rangifer tarandus). Anim Genet 2014;45:750-3. https://doi.org/10.1111/age.12187
  28. Fontanesi L, Scotti E, Colombo M, et al. A composite six bp in-frame deletion in the melanocortin 1 receptor (MC1R) gene is associated with the Japanese brindling coat colour in rabbits (Oryctolagus cuniculus). BMC Genet 2010;11:59.
  29. Zhang Y, Li Q, Ye S, et al. New variants in the melanocortin 1 receptor gene (MC1R) in Asian cattle. Anim Genet 2014;45:609-10. https://doi.org/10.1111/age.12160
  30. Klungland H, Vage D, Gomez-Raya L, Adalsteinsson S, Lien S. The role of melanocyte-stimulating hormone (MSH) receptor in bovine coat color determination. Mamm Genome 1995;6:636-9. https://doi.org/10.1007/BF00352371
  31. Robbins LS, Nadeau JH, Johnson KR, et al. Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function. Cell 1993;72:827-34. https://doi.org/10.1016/0092-8674(93)90572-8
  32. Kijas J, Moller M, Plastow G, Andersson L. A frameshift mutation in MC1R and a high frequency of somatic reversions cause black spotting in pigs. Genetics 2001;158:779-85.
  33. Pavan WJ, Mac S, Cheng M, Tilghman SM. Quantitative trait loci that modify the severity of spotting in piebald mice. Genome Res 1995; 5:29-41. https://doi.org/10.1101/gr.5.1.29

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