马豹点毛色遗传机理研究进展
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摘要
马豹点毛色表型独特,属于马毛色中的白斑表型。虽然在大部分马品种中豹点毛表型并不常见,但其毛色遗传机理非常特殊且较复杂。本文对豹点马毛色的形成机理进行阐释,为马毛色研究和马品种选育提供参考和借鉴。
Leopard complex spotting horses are special for its coat color that can be classified into white spotting. The phenotype of leopard complex spotting is uncommon in most horse breeds, and the genetic mechanism of leopard complex spotting is very special and complex. In this review, details will be carried out for more people to understand the molecular mechanism of leopard complex spotting, it can also provide valuable experience for studying horse coat color and further reference in the study of horse breeding.
Leopard complex spotting horses are special for its coat color that can be classified into white spotting. The phenotype of leopard complex spotting is uncommon in most horse breeds, and the genetic mechanism of leopard complex spotting is very special and complex. In this review, details will be carried out for more people to understand the molecular mechanism of leopard complex spotting, it can also provide valuable experience for studying horse coat color and further reference in the study of horse breeding.
引文
[1]Ludwig A,Reissmann M,Benecke N,et al.Twenty-five thousand years of fluctuating selection on leopard complex spotting and congenital night blindness in horses[J].Philos Trans R Soc Lond B Biol Sci,2015,370(1660):20130386.
[2]Pruvost M,Bellone R,Benecke N,et al.Genotypes of predomestic horses match phenotypes painted in Paleolithic works of cave art[J].Proc Natl Acad Sci U S A,2011,108(46):18626-18630.
[3]赵若阳,赵一萍,李蓓,等.马毛色遗传机理研究进展[J].遗传,2018,40(5):357-368.
[4]Druml T,Grilz-Seger G,Neuditschko M,et al.Phenotypic and genetic analysis of the leopard complex spotting in noriker horses[J].J Hered,2017,108(5):505-514.
[5]Sponenberg D P,Carr G,Simak E,et al.The inheritance of the leopard complex of spotting patterns in horses[J].J Hered,1990,81(4):323-331.
[6]Sandmeyer L S,Bellone R R,Archer S,et al.Congenital stationary night blindness is associated with the leopard complex in the Miniature Horse[J].Vet Ophthalmol,2012,15(1):18-22.
[7]拜孜来提贝·艾克拜尔,杜拉提·卡衣马尔旦,丁丽媛,等.新疆斑点马毛色类型及体尺测定分析[J].黑龙江畜牧兽医,2018(9):79-82.
[8]Holl H M,Brooks S A,Archer S,et al.Variant in the RFWD3gene associated with PATN1,a modifier of leopard complex spotting[J].Anim Genet,2016,47(1):91-101.
[9]D P Sponenberg,Bellone R.Equine color genetics[M].4th Edition.USA:Wiley-Blackwell,1996.
[10]Federici M,Gerber V,Doherr M G,et al.Association of skin problems with coat colour and white markings in three-yearold horses of the Franches-Montagnes breed[J].Schweiz Arch Tierheilkd,2015,157(7):391-398.
[11]Webb A A,Cullen C L.Coat color and coat color patternrelated neurologic and neuro-ophthalmic diseases[J].Can Vet J,2010,51(6):653-657.
[12]Sandmeyer L S,Breaux C B,Archer S,et al.Clinical and electroretinographic characteristics of congenital stationary night blindness in the Appaloosa and the association with the leopard complex[J].Vet Ophthalmol,2007,10(6):368-375.
[13]Scot M L t,John E E,Bellone R R,et al.Redundant contribution of a Transient Receptor Potential cation channel Member1 exon 11 single nucleotide polymorphism to equine congenital stationary night blindness[J].BMC Vet Res,2016,12(1):121.
[14]Strain G M.The genetics of deafness in domestic animals[J].Front Vet Sci,2015,2:29.
[15]Fritz K L,Kaese H J,Valberg S J,et al.Genetic risk factors for insidious equine recurrent uveitis in Appaloosa horses[J].Anim Genet,2014,45(3):392-399.
[16]Rieder S.Molecular tests for coat colours in horses[J].J Anim Breed Genet,2009,126(6):415-424.
[17]Martin L,Damaso N,Mills D.Detection of single nucleotide polymorphisms(SNP)in equine coat color genes using SNaPshot(TM)multiplex kit or pluronic F-108 tri-block copolymer and capillary electrophoresis[J].Electrophoresis,2016,37(21):2862-2866.
[18]Bellone R R,Holl H,Setaluri V,et al.Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse[J].PLoSOne,2013,8(10):e78280.
[19]Bellone R R,Brooks S A,Sandmeyer L,et al.Differential gene expression of TRPM1,the potential cause of congenital stationary night blindness and coat spotting patterns(LP)in the Appaloosa horse(Equus caballus)[J].Genetics,2008,179(4):1861-1870.
[20]Takeuchi H,Horie S,Moritoh S,et al.Different activity patterns in retinal ganglion cells of trpm1 and mglur6 knockout mice[J].Biomed Res Int,2018,5:1-6.
[21]Audo I,Kohl S,Leroy B P,et al.TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness[J].Am J Hum Genet,2009,85(5):720-729.
[22]Schmidt T M.Role of melastatin-related transient receptor potential channel TRPM1 in the retina:Clues from horses and mice[J].J Neurosci,2009,29(38):11720-11722.
[23]Bellone R R,Forsyth G,Leeb T,et al.Fine-mapping and mutation analysis of TRPM1:a candidate gene for leopard complex(LP)spotting and congenital stationary night blindness in horses[J].Brief Funct Genomics,2010,9(3):193-207.
[24]Sandoval-Castellanos E,Wutke S,Gonzalez-Salazar C,et al.Coat colour adaptation of post-glacial horses to increasing forest vegetation[J].Nat Ecol Evol,2017,1(12):1816-1819.
[25]Kusliy M A,Druzhkova A S,Popova K O,et al.Genotyping and coat colour detection of ancient horses from buryatia[J].Tsitologiia,2016,58(4):304-308.
[26]Ludwig A,Pruvost M,Reissmann M,et al.Coat color variation at the beginning of horse domestication[J].Science,2009,324(5926):485.
[27]Wutke S,Benecke N,Sandoval-Castellanos E,et al.Spotted phenotypes in horses lost attractiveness in the Middle Ages[J].Sci Rep,2016,6:38548.
[28]Durig N,Jude R,Holl H,et al.Whole genome sequencing reveals a novel deletion variant in the KIT gene in horses with white spotted coat colour phenotypes[J].Anim Genet,2017,48(4):483-485.
[29]Hauswirth R,Jude R,Haase B,et al.Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes[J].Anim Genet,2013,44(6):763-765.
[30]Druml T,Grilz-Seger G,Neuditschko M,et al.Novel insights into Sabino1 and splashed white coat color patterns in horses[J].Anim Genet,2018,49(3):249-253.
[31]白东义,杨丽华,乌尼尔夫,等.Kit基因对白马被毛褪色的影响[J].遗传,2011,33(11):1171-1178.
[32]Woolf C M.Multifactorial inheritance of common white markings in the Arabian horse[J].J Hered,1990,81(4):250-256.
[33]Kakoi H,Tozaki T,Nagata S,et al.Development of a method for simultaneously genotyping multiple horse coat colour loci and genetic investigation of basic colour variation in Thoroughbred and Misaki horses in Japan[J].J Anim Breed Genet,2009,126(6):425-431.
[34]Jaderkvist Fegraeus K,Velie B D,Axelsson J,et al.A potential regulatory region near the EDN3 gene may control both harness racing performance and coat color variation in horses[J].Physiol Rep,2018,6(10):e13700.
[35]Han H,Mao C,Chen N,et al.Single nucleotide polymorphisms of Kit gene in Chinese indigenous horses[J].Jpn J Vet Res,2016,64(1):81-89.
[36]Haase B,Brooks S A,Schlumbaum A,et al.Allelic heterogeneity at the equine KIT locus in dominant white(W)horses[J].PLoS Genet,2007,3(11):e195.
[37]Holl H M,Brooks S A,Carpenter M L,et al.A novel splice mutation within equine KIT and the W15 allele in the homozygous state lead to all white coat color phenotypes[J].Anim Genet,2017,48(4):497-498.
[38]Hauswirth R,Haase B,Blatter M,et al.Mutations in MITFand PAX3 cause"splashed white"and other white spotting phenotypes in horses[J].PLoS Genet,2012,8(4):e1002653.
[39]Haase B,Rieder S,Tozaki T,et al.Five novel KIT mutations in horses with white coat colour phenotypes[J].Anim Genet,2011,42(3):337-339.
[40]Terry R R,Bailey E,Bernoco D,et al.Linked markers exclude KIT as the gene responsible for appaloosa coat colour spotting patterns in horses[J].Anim Genet,2001,32(2):98-101.
[41]Haase B,Signer-Hasler H,Binns M M,et al.Accumulating mutations in series of haplotypes at the KIT and MITF loci are major determinants of white markings in Franches-Montagnes horses[J].PLoS One,2013,8(9):e75071.
[42]Woolf C M.Multifactorial inheritance of white facial markings in the Arabian horse[J].J Hered,1989,80(3):173-178.
[43]Castle W E.Coat color inheritance in horses and in other mammals[J].Genetics,1954,39(1):35-44.
[44]Langevin M,Synkova H,Jancuskova T,et al.Merle phenotypes in dogs-SILV SINE insertions from Mc to Mh[J].PLoS One,2018,13(9):e0198536.
[2]Pruvost M,Bellone R,Benecke N,et al.Genotypes of predomestic horses match phenotypes painted in Paleolithic works of cave art[J].Proc Natl Acad Sci U S A,2011,108(46):18626-18630.
[3]赵若阳,赵一萍,李蓓,等.马毛色遗传机理研究进展[J].遗传,2018,40(5):357-368.
[4]Druml T,Grilz-Seger G,Neuditschko M,et al.Phenotypic and genetic analysis of the leopard complex spotting in noriker horses[J].J Hered,2017,108(5):505-514.
[5]Sponenberg D P,Carr G,Simak E,et al.The inheritance of the leopard complex of spotting patterns in horses[J].J Hered,1990,81(4):323-331.
[6]Sandmeyer L S,Bellone R R,Archer S,et al.Congenital stationary night blindness is associated with the leopard complex in the Miniature Horse[J].Vet Ophthalmol,2012,15(1):18-22.
[7]拜孜来提贝·艾克拜尔,杜拉提·卡衣马尔旦,丁丽媛,等.新疆斑点马毛色类型及体尺测定分析[J].黑龙江畜牧兽医,2018(9):79-82.
[8]Holl H M,Brooks S A,Archer S,et al.Variant in the RFWD3gene associated with PATN1,a modifier of leopard complex spotting[J].Anim Genet,2016,47(1):91-101.
[9]D P Sponenberg,Bellone R.Equine color genetics[M].4th Edition.USA:Wiley-Blackwell,1996.
[10]Federici M,Gerber V,Doherr M G,et al.Association of skin problems with coat colour and white markings in three-yearold horses of the Franches-Montagnes breed[J].Schweiz Arch Tierheilkd,2015,157(7):391-398.
[11]Webb A A,Cullen C L.Coat color and coat color patternrelated neurologic and neuro-ophthalmic diseases[J].Can Vet J,2010,51(6):653-657.
[12]Sandmeyer L S,Breaux C B,Archer S,et al.Clinical and electroretinographic characteristics of congenital stationary night blindness in the Appaloosa and the association with the leopard complex[J].Vet Ophthalmol,2007,10(6):368-375.
[13]Scot M L t,John E E,Bellone R R,et al.Redundant contribution of a Transient Receptor Potential cation channel Member1 exon 11 single nucleotide polymorphism to equine congenital stationary night blindness[J].BMC Vet Res,2016,12(1):121.
[14]Strain G M.The genetics of deafness in domestic animals[J].Front Vet Sci,2015,2:29.
[15]Fritz K L,Kaese H J,Valberg S J,et al.Genetic risk factors for insidious equine recurrent uveitis in Appaloosa horses[J].Anim Genet,2014,45(3):392-399.
[16]Rieder S.Molecular tests for coat colours in horses[J].J Anim Breed Genet,2009,126(6):415-424.
[17]Martin L,Damaso N,Mills D.Detection of single nucleotide polymorphisms(SNP)in equine coat color genes using SNaPshot(TM)multiplex kit or pluronic F-108 tri-block copolymer and capillary electrophoresis[J].Electrophoresis,2016,37(21):2862-2866.
[18]Bellone R R,Holl H,Setaluri V,et al.Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse[J].PLoSOne,2013,8(10):e78280.
[19]Bellone R R,Brooks S A,Sandmeyer L,et al.Differential gene expression of TRPM1,the potential cause of congenital stationary night blindness and coat spotting patterns(LP)in the Appaloosa horse(Equus caballus)[J].Genetics,2008,179(4):1861-1870.
[20]Takeuchi H,Horie S,Moritoh S,et al.Different activity patterns in retinal ganglion cells of trpm1 and mglur6 knockout mice[J].Biomed Res Int,2018,5:1-6.
[21]Audo I,Kohl S,Leroy B P,et al.TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness[J].Am J Hum Genet,2009,85(5):720-729.
[22]Schmidt T M.Role of melastatin-related transient receptor potential channel TRPM1 in the retina:Clues from horses and mice[J].J Neurosci,2009,29(38):11720-11722.
[23]Bellone R R,Forsyth G,Leeb T,et al.Fine-mapping and mutation analysis of TRPM1:a candidate gene for leopard complex(LP)spotting and congenital stationary night blindness in horses[J].Brief Funct Genomics,2010,9(3):193-207.
[24]Sandoval-Castellanos E,Wutke S,Gonzalez-Salazar C,et al.Coat colour adaptation of post-glacial horses to increasing forest vegetation[J].Nat Ecol Evol,2017,1(12):1816-1819.
[25]Kusliy M A,Druzhkova A S,Popova K O,et al.Genotyping and coat colour detection of ancient horses from buryatia[J].Tsitologiia,2016,58(4):304-308.
[26]Ludwig A,Pruvost M,Reissmann M,et al.Coat color variation at the beginning of horse domestication[J].Science,2009,324(5926):485.
[27]Wutke S,Benecke N,Sandoval-Castellanos E,et al.Spotted phenotypes in horses lost attractiveness in the Middle Ages[J].Sci Rep,2016,6:38548.
[28]Durig N,Jude R,Holl H,et al.Whole genome sequencing reveals a novel deletion variant in the KIT gene in horses with white spotted coat colour phenotypes[J].Anim Genet,2017,48(4):483-485.
[29]Hauswirth R,Jude R,Haase B,et al.Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes[J].Anim Genet,2013,44(6):763-765.
[30]Druml T,Grilz-Seger G,Neuditschko M,et al.Novel insights into Sabino1 and splashed white coat color patterns in horses[J].Anim Genet,2018,49(3):249-253.
[31]白东义,杨丽华,乌尼尔夫,等.Kit基因对白马被毛褪色的影响[J].遗传,2011,33(11):1171-1178.
[32]Woolf C M.Multifactorial inheritance of common white markings in the Arabian horse[J].J Hered,1990,81(4):250-256.
[33]Kakoi H,Tozaki T,Nagata S,et al.Development of a method for simultaneously genotyping multiple horse coat colour loci and genetic investigation of basic colour variation in Thoroughbred and Misaki horses in Japan[J].J Anim Breed Genet,2009,126(6):425-431.
[34]Jaderkvist Fegraeus K,Velie B D,Axelsson J,et al.A potential regulatory region near the EDN3 gene may control both harness racing performance and coat color variation in horses[J].Physiol Rep,2018,6(10):e13700.
[35]Han H,Mao C,Chen N,et al.Single nucleotide polymorphisms of Kit gene in Chinese indigenous horses[J].Jpn J Vet Res,2016,64(1):81-89.
[36]Haase B,Brooks S A,Schlumbaum A,et al.Allelic heterogeneity at the equine KIT locus in dominant white(W)horses[J].PLoS Genet,2007,3(11):e195.
[37]Holl H M,Brooks S A,Carpenter M L,et al.A novel splice mutation within equine KIT and the W15 allele in the homozygous state lead to all white coat color phenotypes[J].Anim Genet,2017,48(4):497-498.
[38]Hauswirth R,Haase B,Blatter M,et al.Mutations in MITFand PAX3 cause"splashed white"and other white spotting phenotypes in horses[J].PLoS Genet,2012,8(4):e1002653.
[39]Haase B,Rieder S,Tozaki T,et al.Five novel KIT mutations in horses with white coat colour phenotypes[J].Anim Genet,2011,42(3):337-339.
[40]Terry R R,Bailey E,Bernoco D,et al.Linked markers exclude KIT as the gene responsible for appaloosa coat colour spotting patterns in horses[J].Anim Genet,2001,32(2):98-101.
[41]Haase B,Signer-Hasler H,Binns M M,et al.Accumulating mutations in series of haplotypes at the KIT and MITF loci are major determinants of white markings in Franches-Montagnes horses[J].PLoS One,2013,8(9):e75071.
[42]Woolf C M.Multifactorial inheritance of white facial markings in the Arabian horse[J].J Hered,1989,80(3):173-178.
[43]Castle W E.Coat color inheritance in horses and in other mammals[J].Genetics,1954,39(1):35-44.
[44]Langevin M,Synkova H,Jancuskova T,et al.Merle phenotypes in dogs-SILV SINE insertions from Mc to Mh[J].PLoS One,2018,13(9):e0198536.