非孟德尔遗传模式：表观遗传学及其应用研究进展

doi:10.11924/j.issn.1000-6850.casb15100062

摘要/Abstract

摘要： 为了阐明表观遗传学在人类疾病发生发展过程中的应用，首先阐释表观遗传学主要研究内容。然后对肿瘤、阿尔兹海默病、动脉粥样硬化及糖尿病等疾病过程中DNA甲基化、组蛋白修饰、染色质重塑以及非编码RNA等表观遗传修饰的分子机制进行了总结概括。该研究对进一步理解相关疾病的发病机理及其分子调控机制有重要意义。

关键词: 肉鸡, 肉鸡, 维拉帕米, 低温, 肺血管重塑

Abstract: To clarify the application of epigenetics in the process of human disease development, research content of epigenetics was reviewed. Then the molecular regulation mechanism of DNA methylation, histone modification, chromatin remodeling and non-coding RNA in the process of related diseases including cancer, alzheimer’s disease, atherosclerosis, and diabetes and other human diseases were reviewed. The results will help to further understand the pathogenesis of related diseases and its molecular regulation mechanism.

王杰,徐友信,刁其玉,张乃锋. 非孟德尔遗传模式：表观遗传学及其应用研究进展[J]. 中国农学通报, 2016, 32(14): 37-43.

Wang Jie,Xu Youxin,Diao Qiyu and Zhang Naifeng. Non-Mendelian Inheritance Patterns: Advances in Epigenetics and Its Application[J]. Chinese Agricultural Science Bulletin, 2016, 32(14): 37-43.

参考文献

[1] Boissonnas CC, Jouannet P, Jammes H. Epigenetic disorders and male subfertility[J].Fertil Steril,2013,99(3):6246-6231.
[2] Bird A. Perceptions of epigenetics[J].Nature,2007,447(7143):396-398.
[3] Gastelo-Branco G, Bannister A J. The epigenetics of cancer: from noncoding RNAs to chromatin and beyond[J].Brief Funct Genomics,2013,12(3):161-163.
[4] Toriello H V. What is new in the field of genetics[J].Adolesc Med State Art Rev,2013,24(1):43-56.
[5] Brasset E, Chambeyron S. Epigenetics and transgenerational inheritance[J].Genome Biol,2013,14(5):306.
[6] Bird A. DNA methylation patterns and epigenetic memory[J].Genes Dev,2002,16(1):6-21.
[7] Goll M G, Bestor T H. Eukaryotic cytosine methyltrans-ferases[J].Annu Rev Biochem,2005,74:481-514.
[8] Long H K, Blackledge N P, Klose R J. ZF-CxxC domain-containing proteins, CpG islands and the chromatin connection[J].Biochem Soc Trans,2013,41(3):727-740.
[9] Nelissen E C, van Montfoot A P, Dumoulin J C, et al. Epigenetics and the placenta[J].Human Reproduction Update,2011,17(3):397-417.
[10] Gokul G, Khosla S. DNA methylation and cancer[J].Subcell Biochem,2012,61(3):597-625.
[11] Lee H S, Kim B H, Cho N Y, et al. Prognostic implications of and relationship between CpG island hypermethylation and repetitive DNA hypomethylation in hepatocellular carcinoma[J].Clin Cancer Res,2009,15:812-820.
[12] Kamiyama H, Suzuki K, Maeda T, et al. DNA demethylation in normal colon tissue predicts predisposition to multiple cancers[J].Oncogene,2012,31(48):5029-5037.
[13] Shao C, Sun W, Tan M, et al. Integrated, genome-wide screening for hypomethylated oncogenes in salivary gland adenoid cystic carcinoma[J].Clin Cancer Res,2011,17(13):4320-4330.
[14] Ooi S K T, Bestor T H. The colorful history of active DNA demethylation[J].Cell,2008,133(7):1145-1148.
[15] De Faveri L E, Hurst C D, Platt F M, et al. Putative tumour suppressor gene necdin is hypermethylated and mutated in human cancer[J].Br J Cancer,2013,108(6):1368-1377.
[16] Waldmann T, Schneider R. Targeting histone modifications-epigenetics in cancer[J].Cell Biology,2013,25(2):184-189.
[17] Mar B G, Bullinger L, Basu E, et al. Sequencing histone-modifying enzymes identifies UTX mutations in acute lymphoblastic leukemia[J].Leukemia,2012,26(8):1881-1883.
[18] Strahl B D, Allis C D. The language of covalent histone modifications[J].Nature,2000,403(6765):41-45.
[19] Jenuwein T, Allis C D. Translating the histone code[J].Science,2001,293(5532):1074-1080.
[20] Theisen J W, Gucwa J S, Yusufzai T, et al. Biochemical analysis of histone deacetylase-independent transcriptional repression by MeCP2[J].The Journal of Biological Chemistry,2013,288(10):7096-7104.
[21] Furumatsu T, Ozaki T. Epigenetic regulation in chondrogenesis[J].Acta Medica Okayama,2010,64(3):155-161.
[22] 蒋智文,刘新光,周中军.组蛋白修饰调节机制的研究进展[J].生物化学与生物物理进展,2009(10):1252-1259.
[23] Wolffe A P, Hayes J J. Chromatin disruption and modification[J].Nucleic Acids Research,1999,27(3):711-720.
[24] David P F, Matthew J S. HDACs and their inhibitors in immunology: teaching anticancer drugs new tricks[J].Immunology and cell biology,2012,90(1):3-5.
[25] Gupta S, Kim S Y, Artis S, et al. Histone methylation regulates memory formation[J].Journal of Neuroscience,2010,30(10):3589-3599.
[26] Nilanjana C, Divya S, Mekonnen LD, et al. Histone H3 tail acetylation modulates ATP-dependent remodeling through multiple mechanisms[J].Nucleic Acids Research,2011,39(19):8378-8391.
[27] Jiaxue Wu, Michael S Y. Huen, Lin-Yu Lu, et al. Histone ubiquitination associates with BRCA1–dependent DNA damage response[J].Molecular and Cellular Biology,2009,29(3):849-860.
[28] Priscilla N, Peter C. Histone code pathway involving H3S28 phosphorylation and K27 acetylation activates transcription and antagonizes polycomb silencing[J]. Proc Natl Acad Sci USA,2011,108(7):2801-2806.
[29] Banerjee T, Chakravarti D. A peek into the complex realm of histone phosphorylation[J].Molecular and Cellular Biology,2011,31(24):4858-4873.
[30] Riddihough G, Pennisi E. The evolution of epigenetics[J].Science,2001,293(5532):1063.
[31] Racki L R, Narlikar G J. ATP-dependent chromatin remodeling enzymes: two heads are not better, just different[J].Curr Opin Genet Dev,2008,18(2):137-144.
[32] Wang GG, Allis CD, Chi P. Chromatin remodeling and cancer, part I: covalent histone modifications[J].Trends Mol Med,2007,13(9):363-372.
[33] Barrett RM, Wood MA. Beyond transcription factors: The role of chromatin modifying enzymes in regulating transcription required for memory[J].Learn Mem,2008,15(7):460-467.
[34] Taverna S D, Li H, Ruthenburg A J, et al. How chromatin-binding modules interpret histone modifications: Lessons from professional pocket pickers[J].Nat Struct Mol Biol,2007,14(11):1025-1040.
[35] Kouzarides T. Chromatin modifications and their function[J].Cell, 2007,128(4):693-705.
[36] Li B, Carey M, Workman J L. The role of chromatin during transcription[J].Cell,2007,128(4):707-719.
[37] Gangaraju V K, Bartholomew B. Mechanisms of ATP dependent chromatin remodeling[J].Mutat Res,2007,618(1-2):3-17.
[38] Peterson C L, Herskowitz I. Characterization of the yeast SWI1, SWI2, and SWI3 genes, which encode a global activator of transcription[J].Cell,1992,68(3):573-583.
[39] Ponting C P, Oliver P L, Reik W. Evolution and functions of long noncoding RNAs[J].Cell,2009,136(4):629-641.
[40] Zaratiegui M, Irvine D V, Martienssen R A. Noncoding RNAs and gene silencing[J].Cell,2007,128(4):763-776.
[41] Mohammad F, Mondal T, Kanduri C. Epigenetics of imprinted long noncoding RNAs[J].Epigenetics,2009,4(5):277-286.
[42] Ruvkun G. Molecular biology. Glimpses of a tiny RNA world[J].Science,2001,294(5543):797-799.
[43] Ichimura A, Ruike Y, Terasawa K, et al. MicroRNAs and regulation of cell signaling[J]. Febs J,2011,278:1610-1618.
[44] Ono K, Kuwabara Y, Han J H. MicroRNAs and cardiovascular disease[J]. Febs J,2011,278(10):1619-1633.
[45] Pencheva N, Tavazoie S F. Control of metastatic progression by microRNA regulatory networks[J].Nat Cell Biol,2013,15(6):546-554.
[46] Monroig P D, Calin G A. MicroRNA and epigenetics: diagnostic and therapeutic opportunities[J].Curr Pathobiol Rep,2013,1(1):43-52.
[47] Jinek M, Doudna J A. A three-dimensional view of the molecular machinery of RNA interference[J].Nature, 2009,457(7228):405-412.
[48] Moazed D. Small RNAs in transcriptional gene silencing and genome defense[J].Nature,2009,457(7228):413-420.
[49] Bayne E H, Allshire R C. RNA-directed transcriptional gene silencing in mammals[J].Trends Genet,2005,21(7):370-373.
[50] Kawasaki H, Taira K, Morris K V. siRNA induced transcriptional gene silencing in mammalian cells[J].Cell Cycle,2005,4(3):442-448.
[51] Jones PA, Baylin S B. The fundamental role of epigenetic events in cancer[J].Nature reviews genetics,2002,3(6):415-428.
[52] Jaenisch R, Bird A. Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals[J].Nature genetics,2003,33(4):245-254.
[53] 徐硕琪.表观遗传学与肿瘤[J].畜牧与饲料科学,2010,31(2):144-145.
[54] Kawasaki H, Abe H. Epigenetics in cancer and inflammation[J].Personalized Medicine Universe,2012,26(1):7-12.
[55] Blelloch R, Gutkind J S. Epigenetics, noncoding RNAs, and cell signaling-crossroads in the regulation of cell fate decisions[J].Cell Biology,2013,25(2):149-151.
[56] Schulz W A, Elo J P, Florl A R, et al. Genomewide DNA hypomethylation is associated with alterations on chromosome 8 in prostate carcinoma[J].Genes Chromosomes Cancer,2002,35(1):58-65.
[57] Lee S H, Kim J, Kim W H, et al. Hypoxic silencing of tumor suppressor RUNX3 by histone modification in gastric cancer cells[J].Oncogene,2009,28(2):184-194.
[58] 林刚,鲍时来,林巍,等.蛋白质甲基转移酶的结合蛋白在肺癌组织中的表达[J].中国热带医学,2010,10(12):1503-1504.
[59] Widschwendter A, Mller H M, Fiegl H, et al. DNA methylation in serum and tumors of cervical cancer patients[J].Clin Cancer Res,2004,10(2):565-571.
[60] Gu X, Sun J, Li S, et al. Oxidative stress induces DNA demethylation and histone acetylation in SH-SY5Y cells: potential epigenetic mechanisms in gene transcription in Aβ production[J].Neurobiol Aging,2013,34:1069-1079.
[61] Migliore L, Coppedè F. Environmental-induced oxidative stress in neurodegenerative disorders and aging[J].Mutat Res,2009,674:73-84.
[62] Mastroeni D, Grover A, Delvaux E, et al. Epigenetic mechanisms in Alzheimer’s disease[J].Neurobiol Aging,2011,32:1161-1180.
[63] Leszek J, Sochocka M, G?siorowski K. Vascular factors and epigenetic modifications in the pathogenesis of Alzheimer''s disease[J].J Neurol Sci,2012,323:25-32.
[64] Chouliaras L, Rutten B P, Kenis G, et al. Epigenetic regulation in the pathophysiology of Alzheimer’s disease[J]. Prog Neurobiol,2010,90(4):498-510.
[65] Urdinquio R G, Sanchez-Mut J V, Esteller M. Epigenetic mechanisms in neurological diseases: genes, syndromes and therapies[J].Lancet Neurol,2009,8(11):1056-1072.
[66] Wang S C, Oelze B, Schumacher A. Age-specific epigenetic drift in late-onset Alzheimer''s disease[J].PLoS One,2008,3(7):e2698.
[67] Arab L, Sabbagh M N. Are certain lifestyle habits associated with lower Alzheimer’s disease risk? [J].J Alzheimers Dis,2010,20(3):785-794.
[68] Choi S W, Mason J B. Folate status: effects on pathways of colorectal carcinogenesis[J].J Nutr, 2002,132(8):2413s-2418s.
[69] Fuso A, Nicolia V, Cavallaro R A, et al. B-vitamin deprivation induces hyperhomocysteinemia and brain S-adenosylhomocysteine, depletes brain S-adenosylmethionine, and enhances PS1 and BACE expression and amyloid-beta deposition in mice[J].Mol Cell Neurosci,2008,37(4):731-746.
[70] Lithner C U, Lacor P N, Zhao W Q, et al. Disruption of neocortical histone H3 homeostasis by soluble Ab: implications for Alzheimer ''s disease[J]. Neurobiol Aging,2013,34(9):2081-2090.
[71] Weber C, Noels H. Atherosclerosis: current pathogenesis and therapeutic options[J].Nat Med,2011,17(11):1410-1422.
[72] Mikaela M B, Ross T M, Anthony W R. Epigenetic modulation in the treatment of atherosclerotic disease[J].Fronries in Genetics,2014,364:1-7.
[73] Hiltunen M O, Turunen M P, kinen T P, et al. DNA hypomethylation and methyltransferase expression in atherosclerotic lesions[J].Vasc Med,2002,7(1):5-11.
[74] Castro R, Rivera I, Blom H J, et al. Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: An overview[J].J Inherit Metab Dis,2006,29:3-20.
[75] Libby P, Okamoto Y, Rocha V Z, et al. Inflammation in atherosclerosis: transition from theory to practice[J].Circ J,2010,74(2):213-220.
[76] Jia L, Zhu L, Wang J Z, et al. Methylation of FOXP3 in regulatory T cells is related to the severity of coronary artery disease[J].Atherosclerosis,2013,228(2):346-352.
[77] Zaina S, Heyn H, Carmona F J, et al. A DNA methylation map of human Atherosclerosis[J]. Circ Cardiovasc Genet,2014,7(5):692-700.
[78] Leader J E, Wang C, Popov V M, et al. Epigenetics and the estrogen receptor[J].Ann N Y Acad Sci,2006,1089(1):73-87.
[79] Myzak M C, Tong P, Dashwood W M, et al. Sulforaphane retards the growth of human PC-3 xenografts and inhibits HDAC activity in human subjects[J].Exp Biol Med(Maywood),2007,232(2):227-234.
[80] Coban D, Milenkovic D, Chanet A, et al. Dietary curcumin inhibits atherosclerosis by affecting the expression of genes involved in leukocyte adhesion and transendothelial migration[J]. Mol Nutr Food Res,2012,56(8):1270-1281.
[81] Dean L, McEntyre J. The Genetic Landscape of diabetes[J]. Bethesda(MD):National Center for Biotechnology Information 9US0,2004:1-135.
[82] Singh A K, Sinha B. Advances in basal insulin therapy: lessons from current evidence[J].J Indian Med Assoc,2013,111(11):735-736,738-742.
[83] Brietake S A. Oral antihyperglycemic treatment options for type 2 diabetes mellitus[J].Med Clin North Am,2015, 99(1):87-106.
[84] Chakrabarti S K, Francis JM, Ziesmann SM, et al. Covalent histone modifications underlie the developmental regulation of insulin gene transcription in pancreatic beta cells[J].J Biol Chem,2003,278(26):23617-23623.
[85] Fu L, Liu X, Niu Y, et al. Effects of high-fat diet and regular aerobic exercise on global gene expression in skeletal muscle of C57BL/6 mice[J].Metabolism,2012,61(2):146-152.
[86] Shimizu K, Onishi M, Sugata E, et al. Disturbance of DNA methy1ation patterns in the early phase of hepatocarcinogenesis induced by a choline-deficient L-amino acid-defined diet in rats[J].Cancer sci,2007,98(9):1318-1322.
[87] Ling C, Del Guerra S, Lupi R, et al. Epigenetic regulation of PPARGC1A in human type 2 diabetic islets and effect on insulin secretion[J]. Diabetologia,2008,51(4):615-622
[88] Francis J M, Chakrabarti S K, Garmey J, et al. Pdx-1 links histone H3-Lys-4 methylation to RNA polymerase Ⅱelongation during activation of insulin transcription[J]. J Bid Chem,2005,280(43):36244-36253.