斑点蒙古马TRPM1和RFWD3基因分型及分子选育方案制定
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摘要
被毛颜色不仅是品种和个体鉴别的重要依据,而且也是制定选育方案时需要考虑的重要性状之一。TRPM1和RFWD3是决定豹点毛色表型的2个关键候选基因。本研究首次将60匹斑点蒙古马为研究对象,对2个基因进行分型,从分子水平对其毛色做出鉴定,验证斑点蒙古马的毛色基因型是否与已公布的马豹点毛色研究结果一致。结果:60匹斑点蒙古马TRPM1基因与对照组(非斑点毛色马)相比,均存在C/T(ECA1 108 249 293)杂合位点;通过测定RFWD3基因的3′调控区序列, ECA3 23 658 447上存在3种不同的多态性,分别为T/T、T/G和G/G。本研究为今后斑点蒙古马的分子育种奠定理论基础。
Coat color is not only an important basis for the identification of breeds and individuals, but also one of the significant traits that must be considered in breeding. Previous studies showed that TRPM1 and RFWD3 were two major candidate genes determining leopard complex. Our research was the first to have used 60 Mongolian Spotted Horses as research objects to identify their coat color at molecular level and to verify whether the results on these horses were consistent with those on other horse breeds. The results showed that there was a typical C/T heterozygosity( ECA1 108 249 293 C>T) in the TRPM1 gene of Mongolian Spotted Horses compared with the control group( non-spotted horses). Sequencing of the 3' regulatory region of RFWD3 revealed three different polymorphisms at an SNP locus( ECA3 23 658 447 T>G),namely,T/T,T/G and G/G. The present research would lay a theoretical foundation for the molecular breeding of Mongolian Spotted Horses in the future.
Coat color is not only an important basis for the identification of breeds and individuals, but also one of the significant traits that must be considered in breeding. Previous studies showed that TRPM1 and RFWD3 were two major candidate genes determining leopard complex. Our research was the first to have used 60 Mongolian Spotted Horses as research objects to identify their coat color at molecular level and to verify whether the results on these horses were consistent with those on other horse breeds. The results showed that there was a typical C/T heterozygosity( ECA1 108 249 293 C>T) in the TRPM1 gene of Mongolian Spotted Horses compared with the control group( non-spotted horses). Sequencing of the 3' regulatory region of RFWD3 revealed three different polymorphisms at an SNP locus( ECA3 23 658 447 T>G),namely,T/T,T/G and G/G. The present research would lay a theoretical foundation for the molecular breeding of Mongolian Spotted Horses in the future.
引文
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[8] 白东义,乌尼尔夫,杨丽华,等.蒙古白马KIT基因的多态性及组织表达研究[J].畜牧与兽医,2013,45(1):49-52.
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[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] Miraldi Utz V,Pfeifer W,Longmuir S Q,et al.Presentation of TRPM1-associated congenital stationary night blindness in children[J].JAMA Ophthalmol,2018,136(4):389-398.
[14] 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.
[15] Duncan L M,Deeds J,Hunter J,et al.Down-regulation of the novel gene melastatin correlates with potential for melanoma metastasis[J].Cancer Res,1998,58(7):1515-1520.
[16] Hantute-Ghesquier A,Haustrate A,Prevarskaya N,et al.TRPM family channels in cancer[J].Pharmaceuticals (Basel),2018,11(2).pii:E58.doi:10.3390/ph11020058.
[17] 李丽莎,李祥龙.哺乳动物TRPM1密码子使用偏性及其聚类分析[J].湖北农业科学,2016,55(20):5378-5383.
[18] 李丽莎,李祥龙,毛艳朋,等.山羊TRPM1基因CDS区生物信息学分析[J].河南农业科学,2015,44(12):121-125.
[19] Oancea E,Vriens J,Brauchi S,et al.TRPM1 forms ion channels associated with melanin content in melanocytes[J].Sci Signal,2009,2(70):ra21.
[20] Guo H,Carlson J A,Slominski A.Role of TRPM in melanocytes and melanoma[J].Exp Dermatol,2012,21(9):650-654.
[21] Devi S,Markandeya Y,Maddodi N,et al.Metabotropic glutamate receptor 6 signaling enhances TRPM1 calcium channel function and increases melanin content in human melanocytes[J].Pigment Cell Melanoma Res,2013,26(3):348-356.
[22] 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.
[23] Fu X,Yucer N,Liu S,et al.RFWD3-Mdm2 ubiquitin ligase complex positively regulates p53 stability in response to DNA damage[J].Proc Natl Acad Sci U S A,2010,107(10):4579-4584.
[24] Gong Z,Chen J.E3 ligase RFWD3 participates in replication checkpoint control[J].J Biol Chem,2011,286(25):22308-22313.
[25] Leung C C,Gong Z,Chen J,et al.Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control[J].J Biol Chem,2011,286(6):4292-4301.
[26] Liu S,Chu J,Yucer N,et al.RING finger and WD repeat domain 3 (RFWD3) associates with replication protein A (RPA) and facilitates RPA-mediated DNA damage response[J].J Biol Chem,2011,286(25):22314-22322.
[27] 杨虹,马月辉,李蓓,等.马基因组研究进展[J].遗传,2010,32(3):211-218.
[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] 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.
[5] Sponenberg D P.Equine color genetics[J].Blackwell Publishers,2009,32(11):1133-1140.
[6] 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.
[7] 李蓓,何小龙,芒来.蒙古马突触融合蛋白17(STX17)基因多态性及在不同毛色皮肤组织中的表达分析[J].畜牧兽医学报,2011,42(11):1632-1637.
[8] 白东义,乌尼尔夫,杨丽华,等.蒙古白马KIT基因的多态性及组织表达研究[J].畜牧与兽医,2013,45(1):49-52.
[9] Holl H M,Brooks S A,Archer S,et al.Variant in the RFWD3 gene associated with PATN1,a modifier of leopard complex spotting[J].Anim Genet,2016,47(1):91-101.
[10] 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.
[11] 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].PLoS One,2013,8(10):e78280.
[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] Miraldi Utz V,Pfeifer W,Longmuir S Q,et al.Presentation of TRPM1-associated congenital stationary night blindness in children[J].JAMA Ophthalmol,2018,136(4):389-398.
[14] 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.
[15] Duncan L M,Deeds J,Hunter J,et al.Down-regulation of the novel gene melastatin correlates with potential for melanoma metastasis[J].Cancer Res,1998,58(7):1515-1520.
[16] Hantute-Ghesquier A,Haustrate A,Prevarskaya N,et al.TRPM family channels in cancer[J].Pharmaceuticals (Basel),2018,11(2).pii:E58.doi:10.3390/ph11020058.
[17] 李丽莎,李祥龙.哺乳动物TRPM1密码子使用偏性及其聚类分析[J].湖北农业科学,2016,55(20):5378-5383.
[18] 李丽莎,李祥龙,毛艳朋,等.山羊TRPM1基因CDS区生物信息学分析[J].河南农业科学,2015,44(12):121-125.
[19] Oancea E,Vriens J,Brauchi S,et al.TRPM1 forms ion channels associated with melanin content in melanocytes[J].Sci Signal,2009,2(70):ra21.
[20] Guo H,Carlson J A,Slominski A.Role of TRPM in melanocytes and melanoma[J].Exp Dermatol,2012,21(9):650-654.
[21] Devi S,Markandeya Y,Maddodi N,et al.Metabotropic glutamate receptor 6 signaling enhances TRPM1 calcium channel function and increases melanin content in human melanocytes[J].Pigment Cell Melanoma Res,2013,26(3):348-356.
[22] 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.
[23] Fu X,Yucer N,Liu S,et al.RFWD3-Mdm2 ubiquitin ligase complex positively regulates p53 stability in response to DNA damage[J].Proc Natl Acad Sci U S A,2010,107(10):4579-4584.
[24] Gong Z,Chen J.E3 ligase RFWD3 participates in replication checkpoint control[J].J Biol Chem,2011,286(25):22308-22313.
[25] Leung C C,Gong Z,Chen J,et al.Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control[J].J Biol Chem,2011,286(6):4292-4301.
[26] Liu S,Chu J,Yucer N,et al.RING finger and WD repeat domain 3 (RFWD3) associates with replication protein A (RPA) and facilitates RPA-mediated DNA damage response[J].J Biol Chem,2011,286(25):22314-22322.
[27] 杨虹,马月辉,李蓓,等.马基因组研究进展[J].遗传,2010,32(3):211-218.