表观遗传学与人类疾病的研究进展.pdfVIP

遗 传 HEREDITAS( Beijing) 27( 3): 466~ 472, 2005 张永彪, 褚嘉祐 (中国医学科学院中国协和医科大学 医学生物学研究所遗传室, 昆明 650118) : 在过去的几年里, 人们对表观遗传疾病的机理有了新的认识, 这些疾病与染色质重塑、基因组印记、X染色 体失活以及非编码RNA调控这 4个表观遗传过程相关。这 4个过程通过调节染色质结构, 在染色体或基因簇水平 上对基因表达进行调控; 异常调控导致复杂的突变且表现为出生前后生长发育和神经功能的异常。对这些疾病的 探讨为表观遗传机制的研究提供了很好的模型, 进而有助于生物医学的研究。文章就表观遗传学和表观遗传疾病 机制的研究进展做一综述。 : 表观遗传; 组蛋白修饰; DNA 甲基化;基因组印记; X染色体失活; 非编码 RNA : R394 : A : 0253- 9772( 2005) 03- 0466- 07 Progress ofResearch on Ep igenetic and H man D isease ZHANG Yong2B iao, CHU Jia2Yo (Deparmt ent of Genetics, Institute ofMedicalBiology, P eking UnionMedical College, Kunming 650118, China) Abstract: In the past few fears, there has been a nascent convergence of scien tific nderstand ing ofh m an disease with ep 2i genetic. Identified ep igenetic processes involved in h m an disease incl de chrom atin remodeling, genomic mi printing, X chromosom e inactivation, and noncod ing RNAs reg lation. These processes infl ence chrom atin str ct re and thereby reg 2 late gene expression on the chromosom e level or a cl ster of linked genes leve.l Dereg lation of these processes res lt in lots of disease wh ich are characterized by comp lex patterns ofm tations and associated phenotypes affecting pre2 and postnatal growth, developm ent, and ne rological f nction. Ep igenetic d iseases are ill strated by the array ofm lti2system disorders and neoplasias and investigations of these diseases have an mi pact on b iomed icalresearch and provide interestingmodels for f nctions andm echan ism s of epigenetic gene control. Key words: ep igenetic; h istone mod ification; DNA m ethylation; genom ic mi pr