Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

0

High Density custom Agilent 44K CGH array analysis of 7q and TET2 region in myelodysplastic/myeloproliferative neoplasms

ABSTRACT: Abnormalities of chromosome 7q are common in myeloid malignancies. Agilent CGH arrays targeted to 7q and Affymetrix SNP 6.0 arrays were used to characterise 7q aUPD and deletions. Sample #017 in this data series showed a microdeletion encompassing EZH2. Screening of a total of 614 cases with myeloid disorders revealed 49 monoallelic or biallelic EZH2 mutations in 42 individuals, most commonly myelodysplastic/myeloproliferative neoplasms (27/219; 12%) and myelofibrosis (4/30; 13%). EZH2 encodes the catalytic subunit of the Polycomb repressive complex 2 (PRC2), the highly conserved histone H3 lysine 27 methyltransferase that influences stem cell renewal by epigenetic repression of genes involved in cell fate decisions. EZH2 has oncogenic activity and its overexpression has been causally linked to differentiation blocks in epithelial tumors. Unexpectedly, the mutations we identified resulted in premature chain termination or direct abrogation of histone methyltransferase activity, suggesting that EZH2 acts as a tumor suppressor for myeloid malignancies. High density CGH array analysis of 7q and the TET2 region in 8 atypical myeloproliferative neoplasms

ORGANISM(S): Homo sapiens

SUBMITTER: Andy Chase 

PROVIDER: E-GEOD-21948 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

Json Xml
altmetric image

Publications

Abnormalities of chromosome 7q are common in myeloid malignancies, but no specific target genes have yet been identified. Here, we describe the finding of homozygous EZH2 mutations in 9 of 12 individuals with 7q acquired uniparental disomy. Screening of a total of 614 individuals with myeloid disorders revealed 49 monoallelic or biallelic EZH2 mutations in 42 individuals; the mutations were found most commonly in those with myelodysplastic/myeloproliferative neoplasms (27 out of 219 individuals,  ...[more]

Similar Datasets

Unknown High Density custom Agilent 44K CGH array analysis of 7q and TET2 region in myelodysplastic/myeloproliferative neoplasms
2010-06-30 | GSE21948 | GEO
Unknown Affymetrix SNP 6.0 array data for myelodysplastic/myeloproliferative neoplasms
2010-06-30 | GSE21990 | GEO
Transcriptomics Myelodysplastic/myeloproliferative neoplasms
2010-06-30 | E-GEOD-21991 | biostudies-arrayexpress
Transcriptomics Copy number analysis in de novo and therapy-related myeloproliferative neoplasms
2012-11-24 | E-GEOD-42482 | biostudies-arrayexpress
Unknown Copy number analysis in de novo and therapy-related myeloproliferative neoplasms
2012-11-24 | GSE42482 | GEO
Transcriptomics Expression data from Tet2-hypomorph (knockdown) and/or Ezh2-null Lineage-Sca-1+c-Kit+ (LSK) cells and granulocyte-macrophage progenitors (GMPs)
2013-08-01 | E-GEOD-42666 | biostudies-arrayexpress
Unknown Gene dosage effect of CUX1 in a murine model disrupts HSC homeostasis and controls the severity and mortality of MDS.
2018-07-03 | GSE101300 | GEO
Genomic Spectrum of Mutations in Myeloid Neoplasms
| phs000759 | dbGaP
Unknown Whole exome sequencing analysis of bone marrow c-Kit+ leukemia cells in Nras-G12D with Ezh2 KO (E2-KO) mice
2019-09-01 | GSE122585 | GEO
Unknown RNA-seq analysis of transcriptomic changes in bone marrow LSK cells in WT, G12D, Ezh2-KO and G12D with Ezh2-KO (G12D_Ezh2-KO) mice [RNA-seq]
2019-06-17 | GSE132079 | GEO