Ontology highlight
ABSTRACT:
SUBMITTER: Koschmann C
PROVIDER: S-EPMC5381643 | biostudies-literature | 2016 Mar
REPOSITORIES: biostudies-literature
Koschmann Carl C Calinescu Anda-Alexandra AA Nunez Felipe J FJ Mackay Alan A Fazal-Salom Janet J Thomas Daniel D Mendez Flor F Kamran Neha N Dzaman Marta M Mulpuri Lakshman L Krasinkiewicz Johnathon J Doherty Robert R Lemons Rosemary R Brosnan-Cashman Jacqueline A JA Li Youping Y Roh Soyeon S Zhao Lili L Appelman Henry H Ferguson David D Gorbunova Vera V Meeker Alan A Jones Chris C Lowenstein Pedro R PR Castro Maria G MG
Science translational medicine 20160301 328
Recent work in human glioblastoma (GBM) has documented recurrent mutations in the histone chaperone protein ATRX. We developed an animal model of ATRX-deficient GBM and showed that loss of ATRX reduces median survival and increases genetic instability. Further, analysis of genome-wide data for human gliomas showed that ATRX mutation is associated with increased mutation rate at the single-nucleotide variant (SNV) level. In mouse tumors, ATRX deficiency impairs nonhomologous end joining and incre ...[more]