Genomics

Dataset Information

59

Homo sapiens


ABSTRACT: Normalization of whole-genome SNP data from acute monocytic leukemia patients for exome sequencing

ORGANISM(S): Homo sapiens  

PROVIDER: PRJNA142067 | ENA |

REPOSITORIES: ENA

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Publications

Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia.

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]

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