首页>
外国专利>
METHODS OF DETECTING INSULATOR DYSFUNCTION AND ONCOGENE ACTIVATION FOR SCREENING, DIAGNOSIS AND TREATMENT OF PATIENTS IN NEED THEREOF
METHODS OF DETECTING INSULATOR DYSFUNCTION AND ONCOGENE ACTIVATION FOR SCREENING, DIAGNOSIS AND TREATMENT OF PATIENTS IN NEED THEREOF
展开▼
机译:检测绝缘子功能失常和致癌物活化的方法,以便对其进行筛查,诊断和治疗
展开▼
页面导航
摘要
著录项
相似文献
摘要
The present application generally to the diagnosis and treatment of diseases resulting from the alteration of chromatin boundaries between topologically-associated domains. In particular, the present application relates to detection of mutations causing DNA hypermethylation phenotypes, CpG methylation within CTCF binding motifs, and aberrant gene expression caused by altered chromatin topology. Applicants show that IDH mutant gliomas exhibit hyper-methylation at CTCF binding sites, compromising binding of this methylation-sensitive insulator protein. Applicants also demonstrate that loss of CTCF at a domain boundary permits a constitutive enhancer to aberrantly interact with the receptor tyrosine kinase gene PDGFRA, a prominent glioma oncogene. Thus, Applicants have uncovered that IDH mutations may promote gliomagenesis by disrupting chromosomal topology and allowing aberrant regulatory interactions that induce oncogene expression.
展开▼