Coat colour phenotype of Qingyu pig is associated with polymorphisms of melanocortin receptor 1 gene
2
조회
0
다운로드
0
인용
0
참고문헌
키워드
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, EQY and Eqy, based on the 13 observed mutations from MC1R gene. Among which, Eqy 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.
Abstract
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, EQY and Eqy, based on the 13 observed mutations from MC1R gene. Among which, Eqy 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.
참고문헌 (33)
- Andersson L, "Genetic dissection of phenotypic diversity in farm animals", Nat Rev Genet, 2, pp.130~138 (2001)
- Chandramohan B, "The alpaca agouti gene: genomic locus, transcripts and causative mutations of eumelanic and pheomelanic coat color", Gene, 521, pp.303~310 (2013)
- Ito S, "Chemistry of mixed melanogenesis—pivotal roles of dopaquinone", Photochem Photobiol, 84, pp.582~592 (2008)
- Bonilla C, "The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans", Hum Genet, 116, pp.402~406 (2005)
- Norris BJ, "A gene duplication affecting expression of the ovine ASIP gene is responsible for white and black sheep", Genome Res, 18, pp.1282~1293 (2008)
- Dun G, "Variations of melanocortin receptor 1 (MC1R) gene in three pig breeds", J Genet Genomics, 34, pp.777~782 (2007)
- Canu A, "Lack of polymorphism at MC1R wild-type allele and evidence of domestic allele introgression across European wild boar populations", Mamm Biol-Zeitschrift für Säugetierkunde, 81, pp.477~479 (2016)
- Cieslak J, "Genotyping of coat color genes (MC1R, ASIP, PMEL17 and MATP) polymorphisms in cold- blooded horses bred in Poland reveals sporadic mistakes in phenotypic descriptions", Anim Sci Pap Rep, 31 (2013)
- Wang G-d, "Signature of balancing selection at the MC1R gene in Kunming dog populations", PloS one, 8, pp.e55469~ (2013)
- Lamoreux ML, "Pigment‐type switching. The Colors of Mice: A Model Genetic Network", pp.177~206 (2010), Wiley-Blackwell
- Abitbol M, "A missense mutation in the agouti signaling protein gene (ASIP) is associated with the no light points coat phenotype in donkeys", Genet Sel Evol, 47, pp.28~ (2015)
- Han J, "Analysis of agouti signaling protein (ASIP) gene polymorphisms and association with coat color in Tibetan sheep (Ovis aries)", Genet Mol Res, 14, pp.1~ (2015)
- Li Y, "Cloning and identification of the ASIP gene in Chinese raccoon dog (Nyctereutes procyonoides procyonoides)", Genet Mol Res, 14, pp.16312~16316 (2014)
- Lai F, "Chinese white Rongchang pig does not have the dominant white allele of KIT but has the dominant black allele of MC1R", J Hered, 98, pp.84~87 (2007)
- Ren J, "A 6-bp deletion in the TYRP1 gene causes the brown colouration phenotype in Chinese indigenous pigs", Heredity, 106, pp.862~868 (2011)
- Wu X, "A 6-bp deletion in exon 8 and two mutations in introns of TYRP1 are associated with blond coat color in Liangshan pigs", Gene, 578, pp.132~136 (2016)
- Stephens M, "A new statistical method for haplotype reconstruction from population data", Am J Hum Genet, 68, pp.978~989 (2001)
- Valbonesi A, "Inheritance of white, black and brown coat colours in alpaca (Vicuna pacos L.)", Small Rumin Res, 99, pp.16~19 (2011)
- Jinlong H, "The association of MC1R gene with coat color of Banna mini-pig inbred line (BMI)", J Anim Vet Adv, 11, pp.503~508 (2012)
- Fontanesi L, "Copy number variation and missense mutations of the agouti signaling protein (ASIP) gene in goat breeds with different coat colors", Cytogenet Genome Res, 126, pp.333~347 (2009)
- Mao H, "Genetic variation within coat color genes of MC1R and ASIP in Chinese brownish red Tibetan pigs", Anim Sci J, 81, pp.630~634 (2010)
- Drögemüller C, "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, 17, pp.58~66 (2006)
- Pielberg GR, "A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse", Nat Ggenet, 40, pp.1004~1009 (2008)
- Deng S, "Studies of the relationship of melanocortin receptor 1 (MC1R) gene with coat color phenotype in pigs", Acta Genet Sin, 30, pp.949~954 (2003)
- Kijas J, "Melanocortin receptor 1 (MC1R) mutations and coat color in pigs", Genetics, 150, pp.1177~1185 (1998)
- 김상환, "칡소의 MC1R의 유전자형에 따른 교배 조합이 자손의 모색과 유전자형 변이에 미치는 영향", 한국수정란이식학회지, 28(3), pp.215~222 (2013), 한국수정란이식학회
- Våge DI, "Two missense mutations in melanocortin 1 receptor (MC1R) are strongly associated with dark ventral coat color in reindeer (Rangifer tarandus)", Anim Genet, 45, pp.750~753 (2014)
- Fontanesi L, "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, 11, pp.59~ (2010)
- Zhang Y, "New variants in the melanocortin 1 receptor gene (MC1R) in Asian cattle", Anim Genet, 45, pp.609~610 (2014)
- Klungland H, "The role of melanocyte-stimulating hormone (MSH) receptor in bovine coat color determination", Mamm Genome, 6, pp.636~639 (1995)
- Robbins LS, "Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function", Cell, 72, pp.827~834 (1993)
- Kijas J, "A frameshift mutation in MC1R and a high frequency of somatic reversions cause black spotting in pigs", Genetics, 158, pp.779~785 (2001)
- Pavan WJ, "Quantitative trait loci that modify the severity of spotting in piebald mice", Genome Res, 5, pp.29~41 (1995)
