Insulator dysfunction and oncogene activation in IDH mutant gliomas

William A. Flavahan, Yotam Drier, Brian B. Liau, Shawn M. Gillespie, Andrew S. Venteicher, Anat O. Stemmer-Rachamimov, Mario L. Suvà and Bradley E. Bernstein ()
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William A. Flavahan: Massachusetts General Hospital and Harvard Medical School
Yotam Drier: Massachusetts General Hospital and Harvard Medical School
Brian B. Liau: Massachusetts General Hospital and Harvard Medical School
Shawn M. Gillespie: Massachusetts General Hospital and Harvard Medical School
Andrew S. Venteicher: Massachusetts General Hospital and Harvard Medical School
Anat O. Stemmer-Rachamimov: Massachusetts General Hospital and Harvard Medical School
Mario L. Suvà: Massachusetts General Hospital and Harvard Medical School
Bradley E. Bernstein: Massachusetts General Hospital and Harvard Medical School

Nature, 2016, vol. 529, issue 7584, 110-114

Abstract: An epigenetic mechanism in which gain-of-function IDH mutations promote gliomagenesis by disrupting chromosomal topology is presented, with IDH mutations causing the binding sites of the methylation-sensitive insulator CTCF to become hypermethylated; disruption of a CTCF boundary near the glioma oncogene PDGFRA allows a constitutive enhancer to contact and activate the oncogene aberrantly.

Date: 2016
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DOI: 10.1038/nature16490

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