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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Transcription profiling of acute monocytic leukemia (AML-M5) patients with DNMT3A mutations

ABSTRACT: To understand the pathogenesis of DNMT3A in acute monocytic leukemia (AML-M5), we identified genes that are expressed differently in leukemia cells from AML-M5 patients collected at diagnosis with DNMT3A mutations (6 cases) compared to those without the mutations (4 cases). Differences of expression level were observed in 889 out of 20,723 (4.3%) annotated genes by using Affymetrix microarray with 469 genes upregulated and 420 genes downregulated. Leukemia cells in bone marrow of acute monocytic leukemia patients were collected at diagnosis for RNA extraction and hybridization on Affymetrix microarrays. 6 cases of AML-M5 samples with DNMT3A mutations and 4 cases of AML-M5 samples wihtout DNMT3A mutations were used.

ORGANISM(S): Homo sapiens

SUBMITTER: Zhaohui Gu

PROVIDER: E-GEOD-27187 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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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]

PMID: 21399634

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