Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
SUBMITTER: Zhaohui Gu
PROVIDER: E-GEOD-27187 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Yan Xiao-Jing XJ Xu Jie J Gu Zhao-Hui ZH Pan Chun-Ming CM Lu Gang G Shen Yang Y Shi Jing-Yi JY Zhu Yong-Mei YM Tang Lin L Zhang Xiao-Wei XW Liang Wen-Xue WX Mi Jian-Qing JQ Song Huai-Dong HD Li Ke-Qin KQ Chen Zhu Z Chen Sai-Juan SJ
Nature genetics 20110313 4
Abnormal epigenetic regulation has been implicated in oncogenesis. We report here the identification of somatic mutations by exome sequencing in acute monocytic leukemia, the M5 subtype of acute myeloid leukemia (AML-M5). We discovered mutations in DNMT3A (encoding DNA methyltransferase 3A) in 23 of 112 (20.5%) cases. The DNMT3A mutants showed reduced enzymatic activity or aberrant affinity to histone H3 in vitro. Notably, there were alterations of DNA methylation patterns and/or gene expression ...[more]