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Transcriptional profiling of normal and JAK2V617F-positive erythroblasts of polycythemia vera and essential thrombocythemia

ABSTRACT: This experiment was designed to identify genes differentially expressed in association with the JAK2V617F mutation in polycythemia vera (PV) and essential thrombocythemia (ET). Peripheral blood was obtained from 20 ET and 16 PV patients and erythroid progenitors were grown in semi-solid methylcellulose media supplemented with 0.01 U/ml erythropoietin. Individual clones were plucked and genotyped for the presence of the JAK2V617F mutation, and up to 20 normal and mutant colonies were pooled from each patient, and subjected to expression profiling. In total, 72 expression profiling datasets were generated, representing paired samples of normal and mutant cells from 36 patients.

ORGANISM(S): Homo sapiens

DISEASE(S): polycythemia vera

SUBMITTER: Edwin Chen

PROVIDER: E-MTAB-384 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Distinct clinical phenotypes associated with JAK2V617F reflect differential STAT1 signaling.

Chen Edwin E Beer Philip A PA Godfrey Anna L AL Ortmann Christina A CA Li Juan J Costa-Pereira Ana P AP Ingle Catherine E CE Dermitzakis Emmanouil T ET Campbell Peter J PJ Green Anthony R AR

Cancer cell 20101101 5

The JAK2V617F mutation is associated with distinct myeloproliferative neoplasms, including polycythemia vera (PV) and essential thrombocythemia (ET), but it remains unclear how it generates disparate disorders. By comparing clonally-derived mutant and wild-type cells from individual patients, we demonstrate that the transcriptional consequences of JAK2V617F are subtle, and that JAK2V617F-heterozygous erythroid cells from ET and PV patients exhibit differential interferon signaling and STAT1 phos ...[more]

PMID: 21074499

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