健康与疾病中的DNA甲基化

DNA methylation in health and disease.

作者信息

Robertson K D, Wolffe A P

机构信息

Epigenetic Gene Regulation and Cancer Section, NCI, NIH, Building 41, 41 Library Drive, Bethesda, Maryland 20892-5431, USA.

出版信息

Nat Rev Genet. 2000 Oct;1(1):11-9. doi: 10.1038/35049533.

DOI:10.1038/35049533

PMID:11262868

Abstract

DNA methylation has recently moved to centre stage in the aetiology of human neurodevelopmental syndromes such as the fragile X, ICF and Rett syndromes. These diseases result from the misregulation of genes that occurs with the loss of appropriate epigenetic controls during neuronal development. Recent advances have connected DNA methylation to chromatin-remodelling enzymes, and understanding this link will be central to the design of new therapeutic tools.

摘要

DNA甲基化最近在人类神经发育综合征（如脆性X综合征、ICF综合征和雷特综合征）的病因学中占据了核心地位。这些疾病是由于在神经元发育过程中，随着适当的表观遗传控制缺失而发生的基因调控异常所致。最近的进展已将DNA甲基化与染色质重塑酶联系起来，而理解这种联系对于新治疗工具的设计至关重要。