黑素合成相关MITF基因及其表达研究概况
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摘要
小眼畸形相关转录因子(MITF)是黑素合成过程中最重要的转录因子。介绍了MITF基因及其转录水平的调控;综述了MITF蛋白及其对黑素细胞作用和黑素合成的调控,其主要通过调控酪氨酸酶(TYR)基因家族来控制黑素细胞的生存和分化以及黑素的合成、转运和分布;介绍了MITF在化妆品、医学方面的应用研究现状,并对其在该领域的应用和研究趋势进行了展望。
Microphthalmia- associated transcription factor( MITF) is the most important transcription factor in the melanogenesis process. MITF gene and its regulation of transcription level were presented. MITF protein and its action on melanocyte and regulation of melanogenesis,mainly via regulation of tyrosinase( TYR) gene family to control the survival and differentiation of melonocyte as well as conduction of the melanogenesis,its transportation and distribution were summarized. The application situation and prospect of MITF on cosmetics and medicine development were discussed.
Microphthalmia- associated transcription factor( MITF) is the most important transcription factor in the melanogenesis process. MITF gene and its regulation of transcription level were presented. MITF protein and its action on melanocyte and regulation of melanogenesis,mainly via regulation of tyrosinase( TYR) gene family to control the survival and differentiation of melonocyte as well as conduction of the melanogenesis,its transportation and distribution were summarized. The application situation and prospect of MITF on cosmetics and medicine development were discussed.
引文
[1]Jiang L,Chen H S,Jiang W,et al.Novel mutations in the SOX10,gene in the first two Chinese cases of type IV Waardenburg syndrome[J].Biochemical&Biophysical Research Communications,2011,408(4):620-624.
[2]Slominski A,Tobin D J,Shibahara S,et al.Melanin pigmentation in mammalian skin and its hormonal regulation[J].Physiological Reviews,2004,84(4):1155-1228.
[3]Hou L,Pavan W J.Transcriptional and signaling regulation in neural crest stem cell-derived melanocyte development:do all roads lead to Mitf[J].Cell Research,2008,18(12):1163-1176.
[4]Arnheiter H.The discovery of the microphthalmia locus and its gene,Mitf[J].Pigment Cell&Melanoma Research,2010,23(6):729-735.
[5]Hodgkinson C A,Moore K J,Nakayama A,et al.Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein[J].Cell,1993,74(2):395-404.
[6]Tachibana M,Perez-Jurado L A,Nakayama A,et al.Cloning of MITF,the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3[J].Human Molecular Genetics,1994,3(4):553-557.
[7]Tassabehji M,Newton V E,Read A P.Waardenburg syndrome type 2caused by mutations in the human microphthalmia(MITF)gene[J].Nature Genetics,1994,8(3):251-255.
[8]刘栋,朱文元.MITF与黑素细胞的发育、分化和功能调节[J].中国细胞生物学学报,2002,24(6):346-351.
[9]马家芳,孔燕,郭军.MITF在黑素瘤中的研究现状及进展[J].肿瘤,2013,33(12):1130-1134.
[10]Barch G S.What controls variation in human skin color[J].PLo S Biology,2003,1(1):19-22.
[11]于云柱,何奕多,刘丽,等.黑素皮质素受体1(MC1R)基因的研究进展[J].中国畜牧兽医,2010,37(6):232-233.
[12]Javelaud D,Alexaki V I,Pierrat M J,et al.GLI2 and M-MITF transcription factors control exclusive gene expression programs and inversely regulate invasion in human melanoma cells[J].Pigment Cell&Melanoma Research,2011,24(5):932-943.
[13]Pierrat M J,Marsaud V,Mauviel A,et al.Expression of microphthalmiaassociated transcription factor(MITF),which is critical for melanoma progression,is inhibited by both transcription factor GLI2 and transforming growth factor-β[J].Journal of Biological Chemistry,2012,287(22):17996-18004.
[14]李诚让,朱文元.Agouti信号蛋白对黑素细胞的影响[J].国际皮肤性病学杂志,2005,31(4):262-264.
[15]Kobayashi T,Vieira W D,Potterf B,et al.Modulation of melanogenic protein expression during the switch from eu-to pheomelanogenesis[J].Journal of Cell Science,1995,108(6):2301-2309.
[16]刘丽红.AngⅡ对黑素合成的作用及其机制的研究[D].重庆:第三军医大学,2015.
[17]Wu M,Hemesath T J,Takemoto C M,et al.c-Kit triggers dual phosphorylations,which couple activation and degradation of the essential melanocyte factor Mi[J].Genes&Development,2000,14(3):301-312.
[18]Wellbrock C,Weisser C,Geissinger E,et al.Activation of p59(Fyn)leads to melanocyte dedifferentiation by influencing MKP-1-regulated mitogen-activated protein kinase signaling[J].J Biol Chem,2002,277:6443-6454.
[19]Vance K W,Goding C R.The transcription network regulating melanocyte development and melanoma[J].Pigment Cell Research,2004,17(4):318-325.
[20]Smith M P,Sanchez-Laorden B,O'Brien K,et al.The immune microenvironment confers resistance to MAPK pathway inhibitors through macrophage-derived TNFα[J].Cancer Discovery,2014,4(10):1214-1229.
[21]Wellbrock C,Arozarena I.Microphthalmia-associated transcription factor in melanoma development and MAP-kinase pathway targeted therapy[J].Pigment Cell&Melanoma Research,2015,28(4):390-406.
[22]张华,常尚揆,冯永,等.PAX3对靶基因MITF转录活性调控的实验研究[J].听力学及言语疾病杂志,2015(5):505-509.
[23]Kubic J D,Young K P,Plummer R S,et al.Pigmentation PAX-ways:the role of Pax3 in melanogenesis,melanocyte stem cell maintenance,and disease[J].Pigment Cell&Melanoma Research,2008,21(6):627-645.
[24]Baker C V H,Bronner-Fraser M.The origins of the neural crest.Part I:Embryonic induction[J].Mechanisms of Development,1997,69:3-11.
[25]Huber W E,Price E R,Widlund H R,et al.A tissue-restricted c AMP transcriptional response:SOX10 modulates alpha-melanocyte-stimulating hormone-triggered expression of microphthalmia-associated transcription factor in melanocytes[J].Journal of Biological Chemistry,2003,278(46):45224-45230.
[26]Hou L,Arnheiter H,Pavan W J.Interspecies difference in the regulation of melanocyte development by SOX10 and MITF[J].Proceedings of the National Academy of Sciences,2006,103(24):9081-10005.
[27]Goding C.Genesis and nemesis[J].Pigment Cell&Melanoma Research,2008,21(6):591.
[28]Goodall J,Carreira S,Denat L,et al.Brn-2 represses microphthalmiaassociated transcription factor expression and marks a distinct subpopulation of microphthalmia-associated transcription factornegative melanoma cells[J].Cancer Research,2008,68(19):7788-7794.
[29]Cook A L,Smith A G,Smit D J,et al.Co-expression of SOX9 and SOX10 during melanocytic differentiation in vitro[J].Experimental Cell Research,2005,308(1):222-235.
[30]Ploper D,Taelman V F,Taelman,et al.MITF drives endolysosomal biogenesis and potentiates Wnt signaling in melanoma cells[J].Proceedings of the National Academy of Sciences of the United States of America,2015,112(5):420-429.
[31]Shiohara M,Shigemura T,Suzuki T,et al.MITF-CM,a newly identified isoform of microphthalmia-associated transcription factor,is expressed in cultured mast cells[J].International journal of laboratory hematology,2009,31(2):215-226.
[32]Steingrímsson E,Copeland N G,Jenkins N A.Melanocytes and the microphthalmia transcription factor network[J].Annu Rev Genet,2004,38:365-411.
[33]Hershey C L,Fisher D E.Genomic analysis of the microphthalmia locus and identification of the MITF-J/Mitf-J isoform[J].Gene,2005,347(1):73-82.
[34]Shibahara S,Yasumoto K,Amae S,et al.Regulation of pigment cellspecific gene expression by MITF[J].Pigment Cell Research,2000,13:98-102.
[35]Yasumoto K,Yokoyama K,Takahashi K,et al.Functional analysis of microphthalmia-associated transcription factor in pigment cellspecific transcription of the human tyrosinase family genes[J].Journal of Biological Chemistry,1997,272(1):503-509.
[36]Haq R,Yokoyama S,Hawryluk E B,et al.BCL2A1 is a lineage-specific antiapoptotic melanoma oncogene that confers resistance to BRAF inhibition[J].Proceedings of the National Academy of Sciences,2013,110(11):4321-4326.
[37]姬长友,谢治年,陈继川,等.RNA干扰抑制c-Met表达对喉癌Hep-2细胞体内外生长的影响[J].中华耳鼻咽喉头颈外科杂志,2010,45(1):61-67.
[38]Carreira S,Goodall J,Denat L,et al.Mitf regulation of Dia1 controls melanoma proliferation and invasivenesss[J].Genes&Development,2006,20(24):3426-3439.
[39]Mc Gill G G,Haq R,Nishimura E K,et al.c-Met expression is regulated by Mitf in the melanocyte lineage[J].Journal of Biological Chemistry,2006,281(15):10365-10373.
[40]Beuret L,Flori E,Denoyelle C,et al.Up-regulation of MET expression by alpha-melanocyte-stimulating hormone and MITF allows hepatocyte growth factor to protect melanocytes and melanoma cells from apoptosis[J].Journal of Biological Chemistry,2007,282(19):14140-14147.
[41]Arozarena I,Sanchez-Laorden B,Packer L,et al.Oncogenic BRAF induces melanoma cell invasion by downregulating the c GMP-specific phosphodiesterase PDE5A[J].Cancer Cell,2011,19(1):45-57.
[42]黎钊,王平,洪为松,等.正常人黑素细胞MITF对酪氨酸酶相关蛋白的转录调控研究[J].医学研究杂志,2013,42(3):58-62.
[43]段炼.防晒产品未来发展趋势[J].日用化学品科学,2009,32(7):15-18.
[44]Zhao X,Fiske B P,Kawakami A,et al.Regulation of MITF stability by the USP13 deubiquitinase[J].Nature Communications,2011,2:414.
[45]赵广,殷勤伟,孟如松,等.外用0.5%MITF-siRNA霜治疗黄褐斑临床疗效及安全性观察[J].中国皮肤性病学杂志,2010,24(8):692-695.
[46]李剑,傅雯雯,付文焕,等.芪白合剂对培养的人黑素细胞生长及酪氨酸酶、MITF基因表达的影响[J].中华皮肤科杂志,2007,40(7):406-408.
[47]王平,洪为松,章菊,等.白癜风表皮黑素细胞超微结构及小眼畸形相关转录因子转录调控研究[J].中华皮肤科杂志,2010,43(7):485-488.
[48]Kochhar A,Hildebrand M S,Smith R J H.Clinical aspects of hereditary hearing loss[J].Genetics in Medicine,2007,9(7):393-408.
[49]Smith S D,Kelley P M,Kenyon J B,et al.Tietz syndrome(hypopigmentation/deafness)caused by mutation of MITF[J].Journal of Medical Genetics,2000,37(6):446-448.
[50]夏建新.MITF、S-100蛋白、HMB45在黑素瘤及色素痣中的表达及意义[C].广州:中华医学会第16次全国皮肤性病学术年会摘要集,2010.
[51]Shen J,Lei Q Q,Chen X,et al.Diagnostic performance of micropthalmia transcription factor for melanoma:a systematic review and metaanalysis[J].European Review for Medical and Pharmacological Sciences,2013,18(6):798-805.
[2]Slominski A,Tobin D J,Shibahara S,et al.Melanin pigmentation in mammalian skin and its hormonal regulation[J].Physiological Reviews,2004,84(4):1155-1228.
[3]Hou L,Pavan W J.Transcriptional and signaling regulation in neural crest stem cell-derived melanocyte development:do all roads lead to Mitf[J].Cell Research,2008,18(12):1163-1176.
[4]Arnheiter H.The discovery of the microphthalmia locus and its gene,Mitf[J].Pigment Cell&Melanoma Research,2010,23(6):729-735.
[5]Hodgkinson C A,Moore K J,Nakayama A,et al.Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein[J].Cell,1993,74(2):395-404.
[6]Tachibana M,Perez-Jurado L A,Nakayama A,et al.Cloning of MITF,the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3[J].Human Molecular Genetics,1994,3(4):553-557.
[7]Tassabehji M,Newton V E,Read A P.Waardenburg syndrome type 2caused by mutations in the human microphthalmia(MITF)gene[J].Nature Genetics,1994,8(3):251-255.
[8]刘栋,朱文元.MITF与黑素细胞的发育、分化和功能调节[J].中国细胞生物学学报,2002,24(6):346-351.
[9]马家芳,孔燕,郭军.MITF在黑素瘤中的研究现状及进展[J].肿瘤,2013,33(12):1130-1134.
[10]Barch G S.What controls variation in human skin color[J].PLo S Biology,2003,1(1):19-22.
[11]于云柱,何奕多,刘丽,等.黑素皮质素受体1(MC1R)基因的研究进展[J].中国畜牧兽医,2010,37(6):232-233.
[12]Javelaud D,Alexaki V I,Pierrat M J,et al.GLI2 and M-MITF transcription factors control exclusive gene expression programs and inversely regulate invasion in human melanoma cells[J].Pigment Cell&Melanoma Research,2011,24(5):932-943.
[13]Pierrat M J,Marsaud V,Mauviel A,et al.Expression of microphthalmiaassociated transcription factor(MITF),which is critical for melanoma progression,is inhibited by both transcription factor GLI2 and transforming growth factor-β[J].Journal of Biological Chemistry,2012,287(22):17996-18004.
[14]李诚让,朱文元.Agouti信号蛋白对黑素细胞的影响[J].国际皮肤性病学杂志,2005,31(4):262-264.
[15]Kobayashi T,Vieira W D,Potterf B,et al.Modulation of melanogenic protein expression during the switch from eu-to pheomelanogenesis[J].Journal of Cell Science,1995,108(6):2301-2309.
[16]刘丽红.AngⅡ对黑素合成的作用及其机制的研究[D].重庆:第三军医大学,2015.
[17]Wu M,Hemesath T J,Takemoto C M,et al.c-Kit triggers dual phosphorylations,which couple activation and degradation of the essential melanocyte factor Mi[J].Genes&Development,2000,14(3):301-312.
[18]Wellbrock C,Weisser C,Geissinger E,et al.Activation of p59(Fyn)leads to melanocyte dedifferentiation by influencing MKP-1-regulated mitogen-activated protein kinase signaling[J].J Biol Chem,2002,277:6443-6454.
[19]Vance K W,Goding C R.The transcription network regulating melanocyte development and melanoma[J].Pigment Cell Research,2004,17(4):318-325.
[20]Smith M P,Sanchez-Laorden B,O'Brien K,et al.The immune microenvironment confers resistance to MAPK pathway inhibitors through macrophage-derived TNFα[J].Cancer Discovery,2014,4(10):1214-1229.
[21]Wellbrock C,Arozarena I.Microphthalmia-associated transcription factor in melanoma development and MAP-kinase pathway targeted therapy[J].Pigment Cell&Melanoma Research,2015,28(4):390-406.
[22]张华,常尚揆,冯永,等.PAX3对靶基因MITF转录活性调控的实验研究[J].听力学及言语疾病杂志,2015(5):505-509.
[23]Kubic J D,Young K P,Plummer R S,et al.Pigmentation PAX-ways:the role of Pax3 in melanogenesis,melanocyte stem cell maintenance,and disease[J].Pigment Cell&Melanoma Research,2008,21(6):627-645.
[24]Baker C V H,Bronner-Fraser M.The origins of the neural crest.Part I:Embryonic induction[J].Mechanisms of Development,1997,69:3-11.
[25]Huber W E,Price E R,Widlund H R,et al.A tissue-restricted c AMP transcriptional response:SOX10 modulates alpha-melanocyte-stimulating hormone-triggered expression of microphthalmia-associated transcription factor in melanocytes[J].Journal of Biological Chemistry,2003,278(46):45224-45230.
[26]Hou L,Arnheiter H,Pavan W J.Interspecies difference in the regulation of melanocyte development by SOX10 and MITF[J].Proceedings of the National Academy of Sciences,2006,103(24):9081-10005.
[27]Goding C.Genesis and nemesis[J].Pigment Cell&Melanoma Research,2008,21(6):591.
[28]Goodall J,Carreira S,Denat L,et al.Brn-2 represses microphthalmiaassociated transcription factor expression and marks a distinct subpopulation of microphthalmia-associated transcription factornegative melanoma cells[J].Cancer Research,2008,68(19):7788-7794.
[29]Cook A L,Smith A G,Smit D J,et al.Co-expression of SOX9 and SOX10 during melanocytic differentiation in vitro[J].Experimental Cell Research,2005,308(1):222-235.
[30]Ploper D,Taelman V F,Taelman,et al.MITF drives endolysosomal biogenesis and potentiates Wnt signaling in melanoma cells[J].Proceedings of the National Academy of Sciences of the United States of America,2015,112(5):420-429.
[31]Shiohara M,Shigemura T,Suzuki T,et al.MITF-CM,a newly identified isoform of microphthalmia-associated transcription factor,is expressed in cultured mast cells[J].International journal of laboratory hematology,2009,31(2):215-226.
[32]Steingrímsson E,Copeland N G,Jenkins N A.Melanocytes and the microphthalmia transcription factor network[J].Annu Rev Genet,2004,38:365-411.
[33]Hershey C L,Fisher D E.Genomic analysis of the microphthalmia locus and identification of the MITF-J/Mitf-J isoform[J].Gene,2005,347(1):73-82.
[34]Shibahara S,Yasumoto K,Amae S,et al.Regulation of pigment cellspecific gene expression by MITF[J].Pigment Cell Research,2000,13:98-102.
[35]Yasumoto K,Yokoyama K,Takahashi K,et al.Functional analysis of microphthalmia-associated transcription factor in pigment cellspecific transcription of the human tyrosinase family genes[J].Journal of Biological Chemistry,1997,272(1):503-509.
[36]Haq R,Yokoyama S,Hawryluk E B,et al.BCL2A1 is a lineage-specific antiapoptotic melanoma oncogene that confers resistance to BRAF inhibition[J].Proceedings of the National Academy of Sciences,2013,110(11):4321-4326.
[37]姬长友,谢治年,陈继川,等.RNA干扰抑制c-Met表达对喉癌Hep-2细胞体内外生长的影响[J].中华耳鼻咽喉头颈外科杂志,2010,45(1):61-67.
[38]Carreira S,Goodall J,Denat L,et al.Mitf regulation of Dia1 controls melanoma proliferation and invasivenesss[J].Genes&Development,2006,20(24):3426-3439.
[39]Mc Gill G G,Haq R,Nishimura E K,et al.c-Met expression is regulated by Mitf in the melanocyte lineage[J].Journal of Biological Chemistry,2006,281(15):10365-10373.
[40]Beuret L,Flori E,Denoyelle C,et al.Up-regulation of MET expression by alpha-melanocyte-stimulating hormone and MITF allows hepatocyte growth factor to protect melanocytes and melanoma cells from apoptosis[J].Journal of Biological Chemistry,2007,282(19):14140-14147.
[41]Arozarena I,Sanchez-Laorden B,Packer L,et al.Oncogenic BRAF induces melanoma cell invasion by downregulating the c GMP-specific phosphodiesterase PDE5A[J].Cancer Cell,2011,19(1):45-57.
[42]黎钊,王平,洪为松,等.正常人黑素细胞MITF对酪氨酸酶相关蛋白的转录调控研究[J].医学研究杂志,2013,42(3):58-62.
[43]段炼.防晒产品未来发展趋势[J].日用化学品科学,2009,32(7):15-18.
[44]Zhao X,Fiske B P,Kawakami A,et al.Regulation of MITF stability by the USP13 deubiquitinase[J].Nature Communications,2011,2:414.
[45]赵广,殷勤伟,孟如松,等.外用0.5%MITF-siRNA霜治疗黄褐斑临床疗效及安全性观察[J].中国皮肤性病学杂志,2010,24(8):692-695.
[46]李剑,傅雯雯,付文焕,等.芪白合剂对培养的人黑素细胞生长及酪氨酸酶、MITF基因表达的影响[J].中华皮肤科杂志,2007,40(7):406-408.
[47]王平,洪为松,章菊,等.白癜风表皮黑素细胞超微结构及小眼畸形相关转录因子转录调控研究[J].中华皮肤科杂志,2010,43(7):485-488.
[48]Kochhar A,Hildebrand M S,Smith R J H.Clinical aspects of hereditary hearing loss[J].Genetics in Medicine,2007,9(7):393-408.
[49]Smith S D,Kelley P M,Kenyon J B,et al.Tietz syndrome(hypopigmentation/deafness)caused by mutation of MITF[J].Journal of Medical Genetics,2000,37(6):446-448.
[50]夏建新.MITF、S-100蛋白、HMB45在黑素瘤及色素痣中的表达及意义[C].广州:中华医学会第16次全国皮肤性病学术年会摘要集,2010.
[51]Shen J,Lei Q Q,Chen X,et al.Diagnostic performance of micropthalmia transcription factor for melanoma:a systematic review and metaanalysis[J].European Review for Medical and Pharmacological Sciences,2013,18(6):798-805.