TYR基因研究进展
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摘要
TYR基因是酪氨酸酶相关蛋白家族(Tyrosinase-related Protein)成员之一,酪氨酸酶是黑色素合成过程中的限速酶,TYR表达量及活性的高低直接影响真黑素与褐黑素的表达,进而对动物毛色产生影响。为深入了解TYR基因结构功能、多态性及TYR基因表达量与毛皮动物毛色的相关性,本文在查阅大量文献基础上,对TYR基因结构与功能以及在临床医学、畜牧生产上的应用研究等方面进行综述。通过综述大量文献发现,TYR基因突变不仅与人类皮肤白化病有明显关系,对哺乳动物被毛白化现象也有明显关系,而且在深色被毛哺乳动物中的表达量普遍高于浅色被毛哺乳动物。
TYR gene is a member of the TYRosinase related protein families, and the TYRosinase is the rate limiting enzyme in the synthesis of melanin, TYR expression and activity of TYRosinase has directly affects on eumelanin and pheomelanin expression, and thus have an impact on animal hair color. For a deeper understanding for the function, polymorphism and the relationship between the expression of TYR gene and fur color of fur animal. On the basis of consulted a large amount of literature, The structure and function of TYR gene and its application in clinical medicine and animal husbandry were reviewed in this paper. TYR gene mutation not only has obvious relationship with human albinism, but also has obvious relationship on mammalian hair bleaching, And we found the expression of the dark coat in mammals is generally higher than that in the light colored coat.
TYR gene is a member of the TYRosinase related protein families, and the TYRosinase is the rate limiting enzyme in the synthesis of melanin, TYR expression and activity of TYRosinase has directly affects on eumelanin and pheomelanin expression, and thus have an impact on animal hair color. For a deeper understanding for the function, polymorphism and the relationship between the expression of TYR gene and fur color of fur animal. On the basis of consulted a large amount of literature, The structure and function of TYR gene and its application in clinical medicine and animal husbandry were reviewed in this paper. TYR gene mutation not only has obvious relationship with human albinism, but also has obvious relationship on mammalian hair bleaching, And we found the expression of the dark coat in mammals is generally higher than that in the light colored coat.
引文
[1]孟浩浩.TYR、ASIP基因多态性与绵羊毛色相关的研究[D].石河子:石河子大学,2014.
[2]Manga P,Kromberg J G,Box N F,et al.Rufousoculocutan-eous albinism in southern African Blacks is caused by mutations in the TYRP-1 gene[J].Am J Hum Genet,1997,61(5):1095-1101.
[3]Gratten J,Beraldi D,Lowder B V,et al.Compelling evidence that a single nucleotide substitution in TYRP-1 is responsible for coatcolour polymorphism in a freeliving population of Soay sheep[J].Proc Biol Sci,2007,274(1610):619-626.
[4]吴庆华,史惠蓉,刘宁,等.七个眼皮肤白化病Ⅰ型家系的早期产前诊断[J].中华医学遗传学杂志,2012,29(4):377-381.
[5]姜俊兵,于秀菊,贺俊平,等.酪氨酸酶在不同被毛颜色羊驼皮肤组织中的表达与定位[J].中国农业科学,2010,(12):2555-2560.
[6]JimbowK.Biological role of tyrosinase-related protein and its relevance to pigmentary disorders(vitiligovulgaris)[J].J Dermatol,1999,26(ll):734-737.
[7]April C S,Jackson I J,Kidson S H.The cloning and sequencing of a cDNA coding for chick tyrosinase-related protein-1[J].BBA-Bioenergetics,1998,1395:7-12.
[8]Camacho-Hubner A,Richard C,Beermann F.Genomic structure and evolutionary conservation of the tyrosinase gene family from Fugu[J].Gene,2002,285:59-68.
[9]郑会芹.山羊TYRP-1基因序列分析及SNPs研究[D].石家庄:河北农业大学,2010.
[10]刘丽,席冬梅,陈亮,等.酪氨酸酶基因遗传变异的研究进展[J].中国畜牧兽医,2010,(12):115-120.
[11]Damem C F,Xavier G M,Oliveira-Filho J P,et al.A nonsense mutation in the tyrosinase gene causes albinism in water buffalo[J].BMC Genet,2012,(13):62.
[12]Imes D L,Geary L A,Grahn R A,et al.Albinism in the domestic cat(Feliscatus)is associated with a tyrosinase(TYR)mutation[J].Anim Genet,2006,37:175-178.
[13]吴立娟,彭晓霞,梁小云,等.眼皮肤白化病遗传基因研究进展[J].广州医学院学报,2006,(4):58-61.
[14]胡浩,王华,刘沁,等.眼皮肤白化病Ⅰ型产前基因诊断二例[J].中国优生与遗传杂志,2014,(11):44-45.
[15]Tomita Y,Takeda A,Okinaga S,et al.Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene[J].Biochem Bioph Res Co,1989,164(3):990-996.
[16]Adens C,CourrierS,Aquaron R.A novel mutation(delAACT)in the tyrosinase gene in a Cameroon jan black with type1A oculocutaneous albinism[J].J Dermatol Sci,2006,42(3):121-124.
[17]Kenny E E,Timpson N J,Sikora M,et al.Melanesian blond hair is caused by an amino acid change in TYRP1[J].Science,2012,336(6081):554.
[18]Tsai C H,Tsai F J,Wu J Y,et al.Insertion/deletion mutations of type I Oculocutaneous albinism in chinaese patients from Taiwan[J].Hum Mutat 1999,14(6):542.
[19]郑辉,黄志刚,闻人庆,等.眼皮肤白化病患者酪氨酸酶基因突变的研究[J].中国应用生理学杂志,2011,(3):329-332.
[20]廖沛熙,李卓,逄婷.等.眼皮肤白化病研究的新途径及TYR基因2种新突变的分析[J].中国病理生理杂志,2011,(3):571-576.
[21]李洪义,郑辉,吴维青,等.中国大陆眼皮肤白化病Ⅰ型致病基因研究及产前基因诊断在优生实践中的应用——附报2种TYR基因新突变[A].中国优生科学协会2004年优生科学学术交流大会论文集[C].成都:中国优生科学协会、中国优生科学协会医学遗传学专业委员会,2004.
[22]高莉,董常生,赫晓燕,等.羊驼酪氨酸酶基因家族在不同毛色个体中的基因表达水平[J].畜牧生产学报,2008,(7):895-899.
[23]陈维云.山羊毛嚢发育和毛色相关基因的克隆与表达分析[D].泰安:山东农业大学,2012.
[24]Fan R W,Xie J S,Bai J M,et al.Skin transcriptome profiles associated with coat color in sheep[J].BMC Genomics,2013,(14):389.
[25]杨舒黎,毛华明,舒文,等.云南乌骨绵羊乌质性状与TYR基因多态性的相关分析[J].遗传,2006,(3):291-298.
[26]Chen W Y,Wang H,Dong B,et al.Molecular cloning and expression analysis of tyrosinase gene in the skin of Jining gray goat(caprahircus)[J].Mol Cell Biochem,2012,366:11-20.
[27]Kausar T,Jaworek T J,Tariq N,et al.Genetic studies of TYRP1 and SLC45A2 in Pakistani patients with non syndromic oculocutaneous albinism[J].J Invest Dermatol,2013,133(4):1099-1102.
[28]Ko J M,Yang J A,Jeong S Y,et al.Mutation spectrum of the TYR and SLC45A2 in patients with oculocutaneous albinism[J].Mol Med Rep,2012,(5):943-948.
[29]杜晓明.边鸡MC1R和TYR基因序列及mRNA表达研究[D].太原:山西农业大学,2013.
[30]Li S J,Wang C,Yu W H,et al.Identification of genes related to white and black plumage,formation by RNA-Seq from white and black feather bulbs in ducks[J].PLoS One,2012,7(5):e36592.
[31]陆晓屏,滕召纯,李庆华,等.他留乌骨鸡TYR基因多态性与色素性状相关性分析[J].中国家禽,2015,(17):17-22.
[32]Boissy R E,Moellmann G E,Halaban R.Tyrosinase and acid phosphatase activities in melanocytes from avian albinos[J].J Invest Dermatol,1987,88(3):292-300.
[33]陈志强,邓学梅,周军,等.鸡的酪氨酸酶基因5'调控区的单链构象多态性分析[J].农业生物技术学报,2005,13(2):191.
[34]白小青,郁枫,王金勇,等.荣昌猪基因的克隆测序及多态性检测[J].西北农林科技大学学报(自然科学版),2004,32(8):81-84.
[35]韩洪金,吴桂生,史宪伟,等.基因外显子1的序列变异与家猪的起源研究[J].遗传,2005,27(5):719-723.
[36]Giuffra E,Kijas J M H,Amarger V,et al.The origin of the domestic pig:independent domestication and subsequent introgression[J].Genetics,2000,154(4):1785-1791.
[37]Ding B,Ryder OA,Wang X,et al.Molecular basis of albinism in the rhesus monkey[J].Mutat Res-Fund Mol M,2000,449(1-2):1-6.
[38]王斌,陈瑜,李春花,等.一例白变猕猴的酪氨酸酶基因及病因分析[J].四川动物,2006,25(4):730-735.
[2]Manga P,Kromberg J G,Box N F,et al.Rufousoculocutan-eous albinism in southern African Blacks is caused by mutations in the TYRP-1 gene[J].Am J Hum Genet,1997,61(5):1095-1101.
[3]Gratten J,Beraldi D,Lowder B V,et al.Compelling evidence that a single nucleotide substitution in TYRP-1 is responsible for coatcolour polymorphism in a freeliving population of Soay sheep[J].Proc Biol Sci,2007,274(1610):619-626.
[4]吴庆华,史惠蓉,刘宁,等.七个眼皮肤白化病Ⅰ型家系的早期产前诊断[J].中华医学遗传学杂志,2012,29(4):377-381.
[5]姜俊兵,于秀菊,贺俊平,等.酪氨酸酶在不同被毛颜色羊驼皮肤组织中的表达与定位[J].中国农业科学,2010,(12):2555-2560.
[6]JimbowK.Biological role of tyrosinase-related protein and its relevance to pigmentary disorders(vitiligovulgaris)[J].J Dermatol,1999,26(ll):734-737.
[7]April C S,Jackson I J,Kidson S H.The cloning and sequencing of a cDNA coding for chick tyrosinase-related protein-1[J].BBA-Bioenergetics,1998,1395:7-12.
[8]Camacho-Hubner A,Richard C,Beermann F.Genomic structure and evolutionary conservation of the tyrosinase gene family from Fugu[J].Gene,2002,285:59-68.
[9]郑会芹.山羊TYRP-1基因序列分析及SNPs研究[D].石家庄:河北农业大学,2010.
[10]刘丽,席冬梅,陈亮,等.酪氨酸酶基因遗传变异的研究进展[J].中国畜牧兽医,2010,(12):115-120.
[11]Damem C F,Xavier G M,Oliveira-Filho J P,et al.A nonsense mutation in the tyrosinase gene causes albinism in water buffalo[J].BMC Genet,2012,(13):62.
[12]Imes D L,Geary L A,Grahn R A,et al.Albinism in the domestic cat(Feliscatus)is associated with a tyrosinase(TYR)mutation[J].Anim Genet,2006,37:175-178.
[13]吴立娟,彭晓霞,梁小云,等.眼皮肤白化病遗传基因研究进展[J].广州医学院学报,2006,(4):58-61.
[14]胡浩,王华,刘沁,等.眼皮肤白化病Ⅰ型产前基因诊断二例[J].中国优生与遗传杂志,2014,(11):44-45.
[15]Tomita Y,Takeda A,Okinaga S,et al.Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene[J].Biochem Bioph Res Co,1989,164(3):990-996.
[16]Adens C,CourrierS,Aquaron R.A novel mutation(delAACT)in the tyrosinase gene in a Cameroon jan black with type1A oculocutaneous albinism[J].J Dermatol Sci,2006,42(3):121-124.
[17]Kenny E E,Timpson N J,Sikora M,et al.Melanesian blond hair is caused by an amino acid change in TYRP1[J].Science,2012,336(6081):554.
[18]Tsai C H,Tsai F J,Wu J Y,et al.Insertion/deletion mutations of type I Oculocutaneous albinism in chinaese patients from Taiwan[J].Hum Mutat 1999,14(6):542.
[19]郑辉,黄志刚,闻人庆,等.眼皮肤白化病患者酪氨酸酶基因突变的研究[J].中国应用生理学杂志,2011,(3):329-332.
[20]廖沛熙,李卓,逄婷.等.眼皮肤白化病研究的新途径及TYR基因2种新突变的分析[J].中国病理生理杂志,2011,(3):571-576.
[21]李洪义,郑辉,吴维青,等.中国大陆眼皮肤白化病Ⅰ型致病基因研究及产前基因诊断在优生实践中的应用——附报2种TYR基因新突变[A].中国优生科学协会2004年优生科学学术交流大会论文集[C].成都:中国优生科学协会、中国优生科学协会医学遗传学专业委员会,2004.
[22]高莉,董常生,赫晓燕,等.羊驼酪氨酸酶基因家族在不同毛色个体中的基因表达水平[J].畜牧生产学报,2008,(7):895-899.
[23]陈维云.山羊毛嚢发育和毛色相关基因的克隆与表达分析[D].泰安:山东农业大学,2012.
[24]Fan R W,Xie J S,Bai J M,et al.Skin transcriptome profiles associated with coat color in sheep[J].BMC Genomics,2013,(14):389.
[25]杨舒黎,毛华明,舒文,等.云南乌骨绵羊乌质性状与TYR基因多态性的相关分析[J].遗传,2006,(3):291-298.
[26]Chen W Y,Wang H,Dong B,et al.Molecular cloning and expression analysis of tyrosinase gene in the skin of Jining gray goat(caprahircus)[J].Mol Cell Biochem,2012,366:11-20.
[27]Kausar T,Jaworek T J,Tariq N,et al.Genetic studies of TYRP1 and SLC45A2 in Pakistani patients with non syndromic oculocutaneous albinism[J].J Invest Dermatol,2013,133(4):1099-1102.
[28]Ko J M,Yang J A,Jeong S Y,et al.Mutation spectrum of the TYR and SLC45A2 in patients with oculocutaneous albinism[J].Mol Med Rep,2012,(5):943-948.
[29]杜晓明.边鸡MC1R和TYR基因序列及mRNA表达研究[D].太原:山西农业大学,2013.
[30]Li S J,Wang C,Yu W H,et al.Identification of genes related to white and black plumage,formation by RNA-Seq from white and black feather bulbs in ducks[J].PLoS One,2012,7(5):e36592.
[31]陆晓屏,滕召纯,李庆华,等.他留乌骨鸡TYR基因多态性与色素性状相关性分析[J].中国家禽,2015,(17):17-22.
[32]Boissy R E,Moellmann G E,Halaban R.Tyrosinase and acid phosphatase activities in melanocytes from avian albinos[J].J Invest Dermatol,1987,88(3):292-300.
[33]陈志强,邓学梅,周军,等.鸡的酪氨酸酶基因5'调控区的单链构象多态性分析[J].农业生物技术学报,2005,13(2):191.
[34]白小青,郁枫,王金勇,等.荣昌猪基因的克隆测序及多态性检测[J].西北农林科技大学学报(自然科学版),2004,32(8):81-84.
[35]韩洪金,吴桂生,史宪伟,等.基因外显子1的序列变异与家猪的起源研究[J].遗传,2005,27(5):719-723.
[36]Giuffra E,Kijas J M H,Amarger V,et al.The origin of the domestic pig:independent domestication and subsequent introgression[J].Genetics,2000,154(4):1785-1791.
[37]Ding B,Ryder OA,Wang X,et al.Molecular basis of albinism in the rhesus monkey[J].Mutat Res-Fund Mol M,2000,449(1-2):1-6.
[38]王斌,陈瑜,李春花,等.一例白变猕猴的酪氨酸酶基因及病因分析[J].四川动物,2006,25(4):730-735.