|
| Status |
Public on Jun 30, 2010 |
| Title |
Affymetrix SNP 6.0 array data for myelodysplastic/myeloproliferative neoplasms |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
SNP genotyping by SNP array
|
| Summary |
Abnormalities of chromosome 7q are common in myeloid malignancies but no specific target genes have been identified. Here we describe the finding of homozygous EZH2 mutations in 9 of 12 cases with 7q acquired uniparental disomy. 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.
|
| |
|
| Overall design |
Affymetrix SNP 6.0 arrays were performed according to the manufacturer's directions on DNA extracted from bone marrow or peripheral blood samples.
Copy number and acquired UPD analysis of Affymetrix SNP 6.0 arrays was performed for 148 atypical myeloproliferative neoplasms.
|
| |
|
| Contributor(s) |
Chase A, Ernst T, Cross NC |
| Citation(s) |
20601953 |
| Submission date |
May 25, 2010 |
| Last update date |
Nov 27, 2018 |
| Contact name |
Andy Chase |
| E-mail(s) |
achase@soton.ac.uk
|
| Organization name |
Wessex Regional Genetics Laboratory
|
| Street address |
Salisbury District Hospital
|
| City |
Salisbury |
| ZIP/Postal code |
SP2 8BJ |
| Country |
United Kingdom |
| |
|
| Platforms (1) |
| GPL6801 |
[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array |
|
| Samples (148)
|
|
| This SubSeries is part of SuperSeries: |
| GSE21991 |
Myelodysplastic/myeloproliferative neoplasms |
|
| Relations |
| BioProject |
PRJNA129383 |
Less...
More...