Koschmann Carl, Lowenstein Pedro R, Castro Maria G
Department of Pediatrics, Division of Pediatric Hematology-Oncology, University of Michigan School of Medicine, Ann Arbor, MI, USA; Department of Neurosurgery and Department of Cell and Developmental Biology, University of Michigan School of Medicine, Ann Arbor, MI, USA.
Department of Neurosurgery and Department of Cell and Developmental Biology, University of Michigan School of Medicine , Ann Arbor, MI, USA.
Mol Cell Oncol. 2016 Apr 27;3(3):e1167158. doi: 10.1080/23723556.2016.1167158. eCollection 2016 May.
Alpha thalassemia/mental retardation syndrome X-linked (ATRX) is mutated in nearly a third of pediatric glioblastoma (GBM) patients. We developed an animal model of ATRX-deficient GBM. Using this model combined with analysis of multiple human glioma genome-wide datasets, we determined that ATRX mutation leads to genetic instability, impaired non-homologous end joining, and alternate lengthening of telomeres (ALT).
X连锁的α地中海贫血/智力迟钝综合征（ATRX）在近三分之一的儿童胶质母细胞瘤（GBM）患者中发生突变。我们建立了ATRX缺陷型GBM的动物模型。利用该模型并结合对多个人类胶质瘤全基因组数据集的分析，我们确定ATRX突变会导致基因不稳定、非同源末端连接受损以及端粒的替代延长（ALT）。
