山羊毛色稀释位点候选基因RAB27A基因研究
|
摘要
本试验根据GenBank上已发表的牛(NW_001502197)和狗(NC_006612)RAB27A基因序列设计引物,扩增山羊RAB27A基因从内含子1至外显子6部分序列片断,测序总长度为11483bp,已提交到GenBank,序列号为EU595665。为比较不同物种RAB27A基因分化程度,也同时测定了绵羊RAB27A基因部分序列,测序总长度为4728bp,已提交到GenBank,序列号为:EU599576。
根据测序结果发现了山羊RAB27A基因序列上的33个突变,其中处于外显子的有2个,UTR的5个,内含子的26个。依据序列号EU595665上的位置来命名这些突变位点,处于外显子上的2个突变分别为183C＞T和9669C＞A,其中引起蛋白质的氨基酸序列的改变的点突变只有1个,是9669C＞A(Leu180Met)。处于UTR和内含子的31个点突变分别为147G＞A、9967T＞C、10101G＞A、10459G＞C、10483C＞A、523T＞C、571T＞C、699T＞C、2306G＞A、2426A＞T、2428T＞G、2719C＞T、3338A＞T、3636T＞C、3660G＞A、3817A＞C、3907G＞C、4165A＞G、4440G＞A、4492C＞T、4634A＞T、4708C＞T、5198C＞A、5300C＞T、5686G＞A、6472T＞C、6754T＞C、8127C＞G、8316G＞A、8778T＞C和8930C＞T。
同时发现山羊RAB27A基因序列存在缺失、插入和替代的现象,缺失现象为第2772位缺失一个腺嘌呤(A)、第5109位缺失一个胸腺吡啶(T)和第4238-4252位缺失一个15bp的核苷酸片段(TTTTGTAACTATTTT);发生的插入现象是第4440位插入两个碱基(AG);发生的替代现象是第10325-10330位一个6bp核苷酸片段(AAAACA)被一个3bp核苷酸片段(CAA)替代。
147G＞A位点上检测到G和A两个等位基因。我们研究的8个山羊品种(承德无角山羊、雷州黑山羊、成都麻羊、南江黄羊快长系和黑色系、济宁青山羊、辽宁绒山羊和唐山奶山羊1333个个体中G为优势等位基因(90.39%),突变率在不同品种中存在差异。8个群体的GG基因型频率都比较高(63.83-97.37%),AG基因型频率在各群体间差异较大(2.63-31.91%),AA基因型仅在雷州山羊、南江黄羊(快长系和黑色系)等三个品种中出现。
对8个地方山羊群体RAB27A基因147G＞A位点进行的Hardy—Weinberg平衡检验结果表明,雷州山羊和南江黄羊黑色系未处于Hardy-Weinberg平衡状态(P＜0.05),其余6个山羊群体均处于平衡状态,认为这6个山羊群体RAB27A基因147G＞A位点上均未进行人工选择,遵循随机交配模式。同时这两个山羊群体的皮毛颜色都是黑色,这就说明山羊RAB27A基因147G＞A位点可能与山羊的黑色毛色有关。
山羊RAB27A基因9669C＞A位点检测到C和A两个等位基因,通过对多态位点9669C＞A群体分析,证实9669C＞A是一个稀有突变。
总体来说,不同物种RAB27A基因CDS序列变异度不大,以山羊的RAB27A基因CDS序列为参考,于其他物种的核苷酸一致性分别为绵羊99.40%、牛98.04%、马92.94%、猪92.79%、狗91.44%、大猩猩90.69%、人90.39%、恒河猴89.79%、小鼠86.94%、挪威鼠85.44%、短尾负鼠86.49%、鸡81.38%和非洲爪蛙80.63%。各物种间RAB27A基因CDS的聚类接过与动物分类学分法基本一致。
On the basis of cattle(NW_001502197)and dog(NC_006612)RAB27A sequences from GenBank,part of goat RAB27A gene from intron 1 to exon 6 was amplified.The total length of determined sequence was 11483bp,which had been submitted to GenBank with the accession number EU595665.For the purpose of analyse the degree of differentiation among different species,sheep RAB27A gene fragments was also amplified.The total length of determined sequence of sheep was 4728bp,with the accession number was EU599576.
A total of 33 point mutations were found in the determinged goat RAB27A gene sequence,of which 2 were in exons,5 in UTR and 26 in introns.These mutations in exons were named as follows:183C＞T and 9669C＞A.There was only one missense mutation, 9669C＞A(Leu180Met).The 31 mutations in UTR and introns were 147G＞A,9967T＞C、10101G＞A、10459G＞C、10483C＞A、523T＞C、571T＞C、699T＞C、2306G＞A、2426A＞T、2428T＞G、2719C＞T、3338A＞T、3636T＞C、3660G＞A、3817A＞C、3907G＞C、4165A＞G、4440G＞A、4492C＞T、4634A＞T、4708C＞T、5198C＞A、5300C＞T、5686G＞A、6472T＞C、6754T＞C、8127C＞G、8316G＞A、8778T＞Cand 8930C＞T.
There are deletions of Adenine,Thymine and a short sequence(TTTTGTAACTATTTT) at the locus of 2772,5109 and 4238-4252 respectively.An insertion of two bases(AG)was detected at the 4440 site,and a 6bp nucleotide(AAAACA)was repleaced by 3bp nucleotide(CAA)from 10325 to 10330.
Two alleles of G and A was detected at the locus of 147G＞A.Then 333 individials from 8 breeds(Chende Polled goat、Leizhou goat、Chengdu Ma goat、Nanjiang Brown goat(B)、Nanjiang Brown goat(F)、Jining Gray goat、Liaoning Cashmere goat and Tangshan Dairy goat)were studied.We found that G is the preponderant allele(90.39%).The mutation rate is different among different varieties.GG genotype frequency is 63.83-97.37%,GG genotype frequency is different among different varieties(2.63-31.91%),and the AA genotype were observed in Leizhou goat,Nanjiang Brown goat(B)and Nanjiang Brown goat(F).
Based on the Hardy—Weinberg test for 8 native goat breeds,we found that Leizhou goat and Nanjiang Brown goat(B)were deviation from the Hardy-Weinberg equilibrium,the others showed a good fit to Hardy-Weinberg equilibrium.So,we suggest that these 6 native goat breeds have not been selected by artificial selection at corresponding mutation sites.At the same time,we discovered that Leizhou goat and Nanjiang Brown goat(B) both are black.It could be inferred that the 147G＞A might be related to the black coat color of goat.
Two alleles,C and A at 9669C＞A were deteced.Based on population analysis,we confirmed that the 9669C＞A was a rare mutation.
Compared with the CDS of goat RAB27A gene,the nucleotide similarity is 99.40%for sheep,98.04%for bovine,92.94%for horse,92.79%for pig,91.44%for dog 90.69% for gorilla,90.39%for human,89.79%for rhesus,86.94%for mice,85.44%for norway rat, 86.49%for short-tailed opossum,81.38%for chicken,and 80.63%for xenopus lesvis. There was lowwer divergency of CDS among different species,and the cluster result of species is basically accord with the traditional taxonomy.
根据测序结果发现了山羊RAB27A基因序列上的33个突变,其中处于外显子的有2个,UTR的5个,内含子的26个。依据序列号EU595665上的位置来命名这些突变位点,处于外显子上的2个突变分别为183C＞T和9669C＞A,其中引起蛋白质的氨基酸序列的改变的点突变只有1个,是9669C＞A(Leu180Met)。处于UTR和内含子的31个点突变分别为147G＞A、9967T＞C、10101G＞A、10459G＞C、10483C＞A、523T＞C、571T＞C、699T＞C、2306G＞A、2426A＞T、2428T＞G、2719C＞T、3338A＞T、3636T＞C、3660G＞A、3817A＞C、3907G＞C、4165A＞G、4440G＞A、4492C＞T、4634A＞T、4708C＞T、5198C＞A、5300C＞T、5686G＞A、6472T＞C、6754T＞C、8127C＞G、8316G＞A、8778T＞C和8930C＞T。
同时发现山羊RAB27A基因序列存在缺失、插入和替代的现象,缺失现象为第2772位缺失一个腺嘌呤(A)、第5109位缺失一个胸腺吡啶(T)和第4238-4252位缺失一个15bp的核苷酸片段(TTTTGTAACTATTTT);发生的插入现象是第4440位插入两个碱基(AG);发生的替代现象是第10325-10330位一个6bp核苷酸片段(AAAACA)被一个3bp核苷酸片段(CAA)替代。
147G＞A位点上检测到G和A两个等位基因。我们研究的8个山羊品种(承德无角山羊、雷州黑山羊、成都麻羊、南江黄羊快长系和黑色系、济宁青山羊、辽宁绒山羊和唐山奶山羊1333个个体中G为优势等位基因(90.39%),突变率在不同品种中存在差异。8个群体的GG基因型频率都比较高(63.83-97.37%),AG基因型频率在各群体间差异较大(2.63-31.91%),AA基因型仅在雷州山羊、南江黄羊(快长系和黑色系)等三个品种中出现。
对8个地方山羊群体RAB27A基因147G＞A位点进行的Hardy—Weinberg平衡检验结果表明,雷州山羊和南江黄羊黑色系未处于Hardy-Weinberg平衡状态(P＜0.05),其余6个山羊群体均处于平衡状态,认为这6个山羊群体RAB27A基因147G＞A位点上均未进行人工选择,遵循随机交配模式。同时这两个山羊群体的皮毛颜色都是黑色,这就说明山羊RAB27A基因147G＞A位点可能与山羊的黑色毛色有关。
山羊RAB27A基因9669C＞A位点检测到C和A两个等位基因,通过对多态位点9669C＞A群体分析,证实9669C＞A是一个稀有突变。
总体来说,不同物种RAB27A基因CDS序列变异度不大,以山羊的RAB27A基因CDS序列为参考,于其他物种的核苷酸一致性分别为绵羊99.40%、牛98.04%、马92.94%、猪92.79%、狗91.44%、大猩猩90.69%、人90.39%、恒河猴89.79%、小鼠86.94%、挪威鼠85.44%、短尾负鼠86.49%、鸡81.38%和非洲爪蛙80.63%。各物种间RAB27A基因CDS的聚类接过与动物分类学分法基本一致。
On the basis of cattle(NW_001502197)and dog(NC_006612)RAB27A sequences from GenBank,part of goat RAB27A gene from intron 1 to exon 6 was amplified.The total length of determined sequence was 11483bp,which had been submitted to GenBank with the accession number EU595665.For the purpose of analyse the degree of differentiation among different species,sheep RAB27A gene fragments was also amplified.The total length of determined sequence of sheep was 4728bp,with the accession number was EU599576.
A total of 33 point mutations were found in the determinged goat RAB27A gene sequence,of which 2 were in exons,5 in UTR and 26 in introns.These mutations in exons were named as follows:183C＞T and 9669C＞A.There was only one missense mutation, 9669C＞A(Leu180Met).The 31 mutations in UTR and introns were 147G＞A,9967T＞C、10101G＞A、10459G＞C、10483C＞A、523T＞C、571T＞C、699T＞C、2306G＞A、2426A＞T、2428T＞G、2719C＞T、3338A＞T、3636T＞C、3660G＞A、3817A＞C、3907G＞C、4165A＞G、4440G＞A、4492C＞T、4634A＞T、4708C＞T、5198C＞A、5300C＞T、5686G＞A、6472T＞C、6754T＞C、8127C＞G、8316G＞A、8778T＞Cand 8930C＞T.
There are deletions of Adenine,Thymine and a short sequence(TTTTGTAACTATTTT) at the locus of 2772,5109 and 4238-4252 respectively.An insertion of two bases(AG)was detected at the 4440 site,and a 6bp nucleotide(AAAACA)was repleaced by 3bp nucleotide(CAA)from 10325 to 10330.
Two alleles of G and A was detected at the locus of 147G＞A.Then 333 individials from 8 breeds(Chende Polled goat、Leizhou goat、Chengdu Ma goat、Nanjiang Brown goat(B)、Nanjiang Brown goat(F)、Jining Gray goat、Liaoning Cashmere goat and Tangshan Dairy goat)were studied.We found that G is the preponderant allele(90.39%).The mutation rate is different among different varieties.GG genotype frequency is 63.83-97.37%,GG genotype frequency is different among different varieties(2.63-31.91%),and the AA genotype were observed in Leizhou goat,Nanjiang Brown goat(B)and Nanjiang Brown goat(F).
Based on the Hardy—Weinberg test for 8 native goat breeds,we found that Leizhou goat and Nanjiang Brown goat(B)were deviation from the Hardy-Weinberg equilibrium,the others showed a good fit to Hardy-Weinberg equilibrium.So,we suggest that these 6 native goat breeds have not been selected by artificial selection at corresponding mutation sites.At the same time,we discovered that Leizhou goat and Nanjiang Brown goat(B) both are black.It could be inferred that the 147G＞A might be related to the black coat color of goat.
Two alleles,C and A at 9669C＞A were deteced.Based on population analysis,we confirmed that the 9669C＞A was a rare mutation.
Compared with the CDS of goat RAB27A gene,the nucleotide similarity is 99.40%for sheep,98.04%for bovine,92.94%for horse,92.79%for pig,91.44%for dog 90.69% for gorilla,90.39%for human,89.79%for rhesus,86.94%for mice,85.44%for norway rat, 86.49%for short-tailed opossum,81.38%for chicken,and 80.63%for xenopus lesvis. There was lowwer divergency of CDS among different species,and the cluster result of species is basically accord with the traditional taxonomy.
引文
[1]舒鸣,肖兵南,陈铁桥.牛毛色遗传的研究进展[J].中国牛业科学,2008(01):15-17.
[2]Storm R.A,TeasdaleR.D,BoxN.F.Human pigmentation genes:identification,structure and consequences of polymorphic variation[J].Gene,2001,277(1-2):49-62.
[3]Li X L,Zheng G R,Zhou R Y,et al.Evolution and differentiation of MSHR gene in different species[J].J Hered,2007,98(2):165-8.
[4]Klungland H,Vage D.I.Pigmentary switches in domestic animal species[J].Ann N Y Acad Sci,2003,994:331-8.
[5]巩元芳,李祥龙,刘铮铸,等.几个地方绵羊品种线粒体DNA(mtDNA)细胞色素b基因多态性研究[J].中国兽医学报,2006(02):213-5.
[6]Zhao-Long W,Xiang-Long L,Yan-Qiang L.The red head and neck of Boer goats may be controlled by the recessive allele of the MC1R gene[J].Animal Research,2006,55:313-322.
[7]巩元芳,李祥龙,刘铮铸.我国主要地方绵羊品种mtDNA细胞色素b基因PCR-RFLP研究[J].畜牧兽医学报,2005(07):649-53.
[8]Royo L J,Fernandez I,Azor P.J,等.Technical note:a novel method for routine genotyping of horse coat color gene polymorphisms[J].J Anim Sci,2008,86(6):1291-5.
[9]Fischer T.W,Slominski A,Tobin D.J,等.Melatonin and the hair follicle[J].J Pineal Res,2008,44(1):1-15.
[10]Schmutz S.M,Berryere T.G.Genes affecting coat colour and pattern in domestic dogs:a review[J].Anim Genet,2007,38(6):539-49.
[11]顿桂玲,李祥龙,曹洪战,等.3个猪品种黑素皮质素受体1(Mclr)基因变异研究(英文)[J].遗传学报,2007(09):777-82.
[12]卢宁,赵小东.黑素小体转运的研究进展[J].中国美容医学,2004(01):101-103.
[13]孟舒,郑辉,李洪义.黑素小体发生及转运机制与白化病[J].医学分子生物学杂志,2006(04):288-291.
[14]里德 U.N,魏纳 H.病理学总论与各论.武忠弼主译[M].1996,北京:人民卫生出版社.129-131.
[15]劳力民,周燕,朱可建,等.基底细胞上皮瘤细胞内黑素小体复合体形成的超微结构观察[J].电子显微学报,2005(02):129-131.
[16]解士海,陈志强,马鹏程,等.人表皮黑素细胞与角质形成细胞共培养体外模型中黑素小体转运的观察[J].临床皮肤科杂志,2006(05):286-288.
[17]卜今,马鹏程,陈志强.黑素小体运输过程中的信号转导途径[J].中国美容医学,2006(10):1209-1211.
[18]帕它木·莫合买提,金锡鹏,张玉彬.烟酰胺对长波紫外线照射后人体黑素细胞中黑素小体运动与分布的影响[J].日用化学工业,2007(01):65-67.
[19]沈海燕,张余光,杨军.黑素小体转运与色素性疾病相关性的研究进展[J].中国美容医学, 2007(02):272-275.
[20]Maudet C.,Taberlet P.Holstein's milk detection in cheeses inferred from melanocortin receptor 1(MC1R)gene polymorphism[J].J Dairy Sci,2002,85(4):707-15.
[21]常洪.山羊的毛色遗传[J].西安联合大学学报,1999(02):2-4.
[22]Searle A.G.Comparative Genetics of Coat Colourin Mammals[M].1968,London Logos Press.
[23]Lush J L.Inheritance of horns waifles,and colorin grade Toggenburg goats[J].Jour Hered,1926,17:73-91.
[24]Asdell S A.Inheritance of color,beard,tassels and horns in the goat[J].Jour.Hered 1928,19:425-431.
[25]张细权,李加琪,杨关福.动物遗传标记[M].1997,北京:中国农业大学出版社.3-7.
[26]Kwon H.Y,Bultman S.J,Loffler C,et al.Molecular structure and chromosomal mapping of the human homolog of the agouti gene[J].Proc Natl Acad Sci U S A,1994,91(21):9760-4.
[27]Voisey J,van Daal A.Agouti:from mouse to man,from skin to fat[J].Pigment Cell Res,2002,15(1):10-8.
[28]Adalsteinsson S,Sponenberg D.P,Alexieva S,et al.Inheritance of goat coat colors[J].J Hered,1994,85(4):267-72.
[29]Rieder S,Taourit S,Mariat D,et al.Mutations in the agouti(ASIP),the extension(MC1R),and the brown(TYRP1)loci and their association to coat color phenotypes in horses(Equus caballus)[J].Mamm Genome,2001,12(6):450-5.
[30]Vage D.I,Lu D,Klungland H,et al.A non-epistatic interaction of agouti and extension in the fox,Vulpes vulpes[J].Nat Genet,1997,15(3):311-5.
[31]Eizirlk E,Yuhki N,Johnson W.E,et al.Molecular genetics and evolution of melanism in the cat family[J].Curt Biol,2003,13(5):448-53.
[32]姜俊兵,赵志军,贺俊平,等.Agouti在不同颜色被毛羊驼皮肤组织中的表达[J].畜牧与兽医,2007(04):38-41.
[33]吴文林,吴穗洁.Rab蛋白的结构、功能与研究展望[J].台湾海峡,2006(04):599-605.
[34]Nagashima K,Torii S,Yi Z,et al.Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions[J].FEBS Lett,2002,517(1-3):233-8.
[35]Fukuda M,Kuroda T S.Slac2-c(syaaptotagmin-like protein homologue lacking C2 domains-c),a novel linker protein that interacts with Rab27,myosin Va/VIIa,and actin[J].J Biol Chem,2002,277(45):43096-103.
[36]Seabra M.C,Ho Y.K,Anant J.S.Deficient geranylgeranylation of Ram/Rab27 in choroideremia[J].J Biol Chem,1995,270(41):24420-7.
[37]Provance D.W,James T.L,Mercer J.A.Melanophilin,the product of the leaden locus,is required for targeting of myosin-Va to melanosomes[J].Traffic,2002,3(2):124-132.
[38]Zerial M,McBride H.Rab proteins as membrane organizers[J].Nat Rev Mol Cell Biol,2001,2(2):107-17.
[39]Chen Y,Samaraweera P,Sun T.T,et al.Rab27b association with melanosomes:dominant negative mutants disrupt melanosomal movement[J].J Invest Dermatol,2002,118(6):933-40.
[40]Detter J.C,Zhang Q,Mules E.H,et al.Rab geranylgeranyl transferase alpha mutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis[J].Proc Nail Acad Sci U S A,2000,97(8):4144-9.
[41]Ramalho J.S,Anders R,Jaissle G.B,et al.Rapid degradation of dominant-negative Rab27 proteins in rive precludes their use in transgenic mouse models[J].BMC Cell Biol,2002,3:26.
[42]Fukuda M.Synaptotagmin-like protein(Slp)homology domain 1 of Slac2-a/melanophilin is a critical determinant of GTP-dependent specific binding to Rab27A[J].J Biol Chem,2002,277(42):40118-24.
[43]Oetting WS,Montoliu L,Bennett DC.Mouse Coat Color Genes Available from:http://www.esper.org/micemut.
[44]Bahadoran P,Busca R,Chiaverini C,et al.Characterization of the molecular defects in Rab27a,caused by RAB27A misseuse mutations found in patients with Griscelli syndrome[J].J Biol Chem,2003,278(13):11386-92.
[45]Okumura N,Hayashi T,Sekikawa H,et al.Sequencing,mapping and nueleotide variation of porcine coat colour genes EDNRB,MYOSA,KITLG,SLC45A2,RAB27A,SILV and MITF[J].Anim Genet,2006,37(1):80-2.
[46]Barral D.C,Ramalho J.S,Anders R,et al.Functional redundancy of Rab27 proteins and the pathogenesis of Griscelli syndrome[J].J Clin Invest,2002,110(2):247-57.
[47]Menasche G,Pastural E,Feldmann J,et al.Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome[J].Nat Genet,2000,25(2):173-176.
[48]中国羊品种志编写组.中国羊品种志[M].1989:上海科学技术出版社.92-101.
[49]陈伟生,徐桂芳.中国家畜地方品种资源图谱[M].2004,北京:中国农业出版社.384-468.
[50]萨姆布鲁克 J,弗 F,曼尼阿蒂斯T.分子克隆实验指南(第三版)[M].2002,北京:科学技术出版社.5-25
[51]吴冠芸,潘华珍.生物化学与分子生物学实验常用数据手册[M].1999,北京:科学出版社.7-13
[52]Temnykh S,DeClerck G,Lukashova A,et al.Computational and experimental analysis of microsatellites in rice(Oryza sativa L.):frequency,length variation,transposon associations,and genetic marker potential[J].Genome Res,2001,11(8):1441-52.
[53]Surjit M,Oberoi R,Kumar R,et al.Enhanced alphal microglobulin secretion from Hepatitis E virus ORF3-expressing human hepatoma cells is mediated by the tumor susceptibility gene 101[J].J Biol Chem,2006,281(12):8135-42.
[54]Morrish T.A,Garcia-Perez J.L,Stamato T.D,et al.Endonuclease-independent LINE-1retrotransposition at mammalian telomeres[J].Nature,2007,446(7132):208-12.
[55]Konkel M.K,Wang J,Liang P,et al.Identification and characterization of novel polymorphic LINE-1 insertions through comparison of two human genome sequence assemblies[J].Gene,2007,390(1-2):28-38.
[56]Nei M,Kumar S.Molecular Evolution and Phylogenetics[M].2000:Oxford University Press.269.
[57]Avise J.C.Molecular markers,natural history and evolution[M].2000,New York:Chapman &Hall
[58]Tajima F.Evolutionary relationship of DNA sequences in finite populations[J].Genetics,1983,105(2):437-60.
[59]Nei M.Molecular Evolutionary Genetics[M].1987,NewYork:Columbia University Press.276-277.
[60]Wright F.The'effective number of codons' used in a gene[J].Gene,1990,87(1):23-29.
[61]朱砺,李学伟,帅素容,等.MyoD基因在不同猪种中的分布及群体遗传结构分析[J].畜牧兽医学报,2007(01):1-7.
[62]GUO Ping-Zhong.Introduction to population genetics[M].1993,Beijing:Agricultural Press.298-332.
[63]Ghosh T.C,Gupta S.K,Majumdar S.Studies on codon usage in Entamoeba histolytica[J].Int J Parasitol,2000,30(6):715-22.
[2]Storm R.A,TeasdaleR.D,BoxN.F.Human pigmentation genes:identification,structure and consequences of polymorphic variation[J].Gene,2001,277(1-2):49-62.
[3]Li X L,Zheng G R,Zhou R Y,et al.Evolution and differentiation of MSHR gene in different species[J].J Hered,2007,98(2):165-8.
[4]Klungland H,Vage D.I.Pigmentary switches in domestic animal species[J].Ann N Y Acad Sci,2003,994:331-8.
[5]巩元芳,李祥龙,刘铮铸,等.几个地方绵羊品种线粒体DNA(mtDNA)细胞色素b基因多态性研究[J].中国兽医学报,2006(02):213-5.
[6]Zhao-Long W,Xiang-Long L,Yan-Qiang L.The red head and neck of Boer goats may be controlled by the recessive allele of the MC1R gene[J].Animal Research,2006,55:313-322.
[7]巩元芳,李祥龙,刘铮铸.我国主要地方绵羊品种mtDNA细胞色素b基因PCR-RFLP研究[J].畜牧兽医学报,2005(07):649-53.
[8]Royo L J,Fernandez I,Azor P.J,等.Technical note:a novel method for routine genotyping of horse coat color gene polymorphisms[J].J Anim Sci,2008,86(6):1291-5.
[9]Fischer T.W,Slominski A,Tobin D.J,等.Melatonin and the hair follicle[J].J Pineal Res,2008,44(1):1-15.
[10]Schmutz S.M,Berryere T.G.Genes affecting coat colour and pattern in domestic dogs:a review[J].Anim Genet,2007,38(6):539-49.
[11]顿桂玲,李祥龙,曹洪战,等.3个猪品种黑素皮质素受体1(Mclr)基因变异研究(英文)[J].遗传学报,2007(09):777-82.
[12]卢宁,赵小东.黑素小体转运的研究进展[J].中国美容医学,2004(01):101-103.
[13]孟舒,郑辉,李洪义.黑素小体发生及转运机制与白化病[J].医学分子生物学杂志,2006(04):288-291.
[14]里德 U.N,魏纳 H.病理学总论与各论.武忠弼主译[M].1996,北京:人民卫生出版社.129-131.
[15]劳力民,周燕,朱可建,等.基底细胞上皮瘤细胞内黑素小体复合体形成的超微结构观察[J].电子显微学报,2005(02):129-131.
[16]解士海,陈志强,马鹏程,等.人表皮黑素细胞与角质形成细胞共培养体外模型中黑素小体转运的观察[J].临床皮肤科杂志,2006(05):286-288.
[17]卜今,马鹏程,陈志强.黑素小体运输过程中的信号转导途径[J].中国美容医学,2006(10):1209-1211.
[18]帕它木·莫合买提,金锡鹏,张玉彬.烟酰胺对长波紫外线照射后人体黑素细胞中黑素小体运动与分布的影响[J].日用化学工业,2007(01):65-67.
[19]沈海燕,张余光,杨军.黑素小体转运与色素性疾病相关性的研究进展[J].中国美容医学, 2007(02):272-275.
[20]Maudet C.,Taberlet P.Holstein's milk detection in cheeses inferred from melanocortin receptor 1(MC1R)gene polymorphism[J].J Dairy Sci,2002,85(4):707-15.
[21]常洪.山羊的毛色遗传[J].西安联合大学学报,1999(02):2-4.
[22]Searle A.G.Comparative Genetics of Coat Colourin Mammals[M].1968,London Logos Press.
[23]Lush J L.Inheritance of horns waifles,and colorin grade Toggenburg goats[J].Jour Hered,1926,17:73-91.
[24]Asdell S A.Inheritance of color,beard,tassels and horns in the goat[J].Jour.Hered 1928,19:425-431.
[25]张细权,李加琪,杨关福.动物遗传标记[M].1997,北京:中国农业大学出版社.3-7.
[26]Kwon H.Y,Bultman S.J,Loffler C,et al.Molecular structure and chromosomal mapping of the human homolog of the agouti gene[J].Proc Natl Acad Sci U S A,1994,91(21):9760-4.
[27]Voisey J,van Daal A.Agouti:from mouse to man,from skin to fat[J].Pigment Cell Res,2002,15(1):10-8.
[28]Adalsteinsson S,Sponenberg D.P,Alexieva S,et al.Inheritance of goat coat colors[J].J Hered,1994,85(4):267-72.
[29]Rieder S,Taourit S,Mariat D,et al.Mutations in the agouti(ASIP),the extension(MC1R),and the brown(TYRP1)loci and their association to coat color phenotypes in horses(Equus caballus)[J].Mamm Genome,2001,12(6):450-5.
[30]Vage D.I,Lu D,Klungland H,et al.A non-epistatic interaction of agouti and extension in the fox,Vulpes vulpes[J].Nat Genet,1997,15(3):311-5.
[31]Eizirlk E,Yuhki N,Johnson W.E,et al.Molecular genetics and evolution of melanism in the cat family[J].Curt Biol,2003,13(5):448-53.
[32]姜俊兵,赵志军,贺俊平,等.Agouti在不同颜色被毛羊驼皮肤组织中的表达[J].畜牧与兽医,2007(04):38-41.
[33]吴文林,吴穗洁.Rab蛋白的结构、功能与研究展望[J].台湾海峡,2006(04):599-605.
[34]Nagashima K,Torii S,Yi Z,et al.Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions[J].FEBS Lett,2002,517(1-3):233-8.
[35]Fukuda M,Kuroda T S.Slac2-c(syaaptotagmin-like protein homologue lacking C2 domains-c),a novel linker protein that interacts with Rab27,myosin Va/VIIa,and actin[J].J Biol Chem,2002,277(45):43096-103.
[36]Seabra M.C,Ho Y.K,Anant J.S.Deficient geranylgeranylation of Ram/Rab27 in choroideremia[J].J Biol Chem,1995,270(41):24420-7.
[37]Provance D.W,James T.L,Mercer J.A.Melanophilin,the product of the leaden locus,is required for targeting of myosin-Va to melanosomes[J].Traffic,2002,3(2):124-132.
[38]Zerial M,McBride H.Rab proteins as membrane organizers[J].Nat Rev Mol Cell Biol,2001,2(2):107-17.
[39]Chen Y,Samaraweera P,Sun T.T,et al.Rab27b association with melanosomes:dominant negative mutants disrupt melanosomal movement[J].J Invest Dermatol,2002,118(6):933-40.
[40]Detter J.C,Zhang Q,Mules E.H,et al.Rab geranylgeranyl transferase alpha mutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis[J].Proc Nail Acad Sci U S A,2000,97(8):4144-9.
[41]Ramalho J.S,Anders R,Jaissle G.B,et al.Rapid degradation of dominant-negative Rab27 proteins in rive precludes their use in transgenic mouse models[J].BMC Cell Biol,2002,3:26.
[42]Fukuda M.Synaptotagmin-like protein(Slp)homology domain 1 of Slac2-a/melanophilin is a critical determinant of GTP-dependent specific binding to Rab27A[J].J Biol Chem,2002,277(42):40118-24.
[43]Oetting WS,Montoliu L,Bennett DC.Mouse Coat Color Genes Available from:http://www.esper.org/micemut.
[44]Bahadoran P,Busca R,Chiaverini C,et al.Characterization of the molecular defects in Rab27a,caused by RAB27A misseuse mutations found in patients with Griscelli syndrome[J].J Biol Chem,2003,278(13):11386-92.
[45]Okumura N,Hayashi T,Sekikawa H,et al.Sequencing,mapping and nueleotide variation of porcine coat colour genes EDNRB,MYOSA,KITLG,SLC45A2,RAB27A,SILV and MITF[J].Anim Genet,2006,37(1):80-2.
[46]Barral D.C,Ramalho J.S,Anders R,et al.Functional redundancy of Rab27 proteins and the pathogenesis of Griscelli syndrome[J].J Clin Invest,2002,110(2):247-57.
[47]Menasche G,Pastural E,Feldmann J,et al.Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome[J].Nat Genet,2000,25(2):173-176.
[48]中国羊品种志编写组.中国羊品种志[M].1989:上海科学技术出版社.92-101.
[49]陈伟生,徐桂芳.中国家畜地方品种资源图谱[M].2004,北京:中国农业出版社.384-468.
[50]萨姆布鲁克 J,弗 F,曼尼阿蒂斯T.分子克隆实验指南(第三版)[M].2002,北京:科学技术出版社.5-25
[51]吴冠芸,潘华珍.生物化学与分子生物学实验常用数据手册[M].1999,北京:科学出版社.7-13
[52]Temnykh S,DeClerck G,Lukashova A,et al.Computational and experimental analysis of microsatellites in rice(Oryza sativa L.):frequency,length variation,transposon associations,and genetic marker potential[J].Genome Res,2001,11(8):1441-52.
[53]Surjit M,Oberoi R,Kumar R,et al.Enhanced alphal microglobulin secretion from Hepatitis E virus ORF3-expressing human hepatoma cells is mediated by the tumor susceptibility gene 101[J].J Biol Chem,2006,281(12):8135-42.
[54]Morrish T.A,Garcia-Perez J.L,Stamato T.D,et al.Endonuclease-independent LINE-1retrotransposition at mammalian telomeres[J].Nature,2007,446(7132):208-12.
[55]Konkel M.K,Wang J,Liang P,et al.Identification and characterization of novel polymorphic LINE-1 insertions through comparison of two human genome sequence assemblies[J].Gene,2007,390(1-2):28-38.
[56]Nei M,Kumar S.Molecular Evolution and Phylogenetics[M].2000:Oxford University Press.269.
[57]Avise J.C.Molecular markers,natural history and evolution[M].2000,New York:Chapman &Hall
[58]Tajima F.Evolutionary relationship of DNA sequences in finite populations[J].Genetics,1983,105(2):437-60.
[59]Nei M.Molecular Evolutionary Genetics[M].1987,NewYork:Columbia University Press.276-277.
[60]Wright F.The'effective number of codons' used in a gene[J].Gene,1990,87(1):23-29.
[61]朱砺,李学伟,帅素容,等.MyoD基因在不同猪种中的分布及群体遗传结构分析[J].畜牧兽医学报,2007(01):1-7.
[62]GUO Ping-Zhong.Introduction to population genetics[M].1993,Beijing:Agricultural Press.298-332.
[63]Ghosh T.C,Gupta S.K,Majumdar S.Studies on codon usage in Entamoeba histolytica[J].Int J Parasitol,2000,30(6):715-22.