Browse
Submit Data
Databases
API
Help

Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

53 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

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

ACCESS DATA

Json Xml

Publications

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

Similar Datasets

Quantitative Analysis of the erythrocyte membrane proteins in polycythemia vera patients treated with hydroxycarbamide

Project description:Polycythemia vera (PV) is a myeloproliferative disorder arising in pluripotent stem cells that causes an abnormal erythrocyte mass. More than 90% of PV patients have a mutation in JAK2 protein that is closely associated with the erythrocyte membrane. We report findings on quantitative analysis of the erythrocyte membrane proteins differentially regulated in PV patients treated with hydroxycarbamide.</br>Kottahachchi et al., EuPA Open Proteomics 7, 43-53</br>Quantitative analysis of the erythrocyte membrane proteins in polycythemia vera patients treated with hydroxycarbamide</br>DOI:10.1016/j.euprot.2015.04.001</br><a href="http://www.sciencedirect.com/science/article/pii/S2212968515000100">http://www.sciencedirect.com/science/article/pii/S2212968515000100</a>

2015-05-11 | PXD001532 | Pride

Gene and miRNA expression profiles in Polycythemia Vera and Essential Thrombocythemia according to CALR and JAK2 mutations [miEP]

Project description:Polycythemia vera (PV) and essential thrombocythemia (ET) are Philadelphia-negative myeloproliferative neoplasms (MPNs) characterized by erythrocytosis and thrombocytosis, respectively. Approximately 95% of PV and 50–70% of ET patients harbour the V617F mutation in the exon 14 of JAK2 gene, while about 20-30% of ET patients carry CALRins5 or CALRdel52 mutations. These ET CARL-mutated subjects show higher platelet count and lower thrombotic risk compared to JAK2-mutated patients. Here we showed that CALR-mutated and JAK2V617F-positive CD34+ cells have different gene and miRNA expression profiles. Indeed, we highlighted several pathways differentially activated between JAK2V617F- and CALR-mutated progenitors, i.e. mTOR, MAPK/PI3K and MYC pathways. Furthermore, we unveiled that the expression of several genes involved in DNA repair, chromatin remodelling, splicing and chromatid cohesion are decreased in CALR-mutated cells. According to the low risk of thrombosis in CALR-mutated patients, we also found the down-regulation of several genes involved in thrombin signalling and platelet activation. As a whole, these data support the model in which CALR-mutated ET could be considered as a distinct disease entity from JAK2V617F-positive MPNs and may provide the molecular basis supporting the different clinical features of these patients.

2018-03-01 | GSE103238 | GEO

Gene and miRNA expression profiles in Polycythemia Vera and Essential Thrombocythemia according to CALR and JAK2 mutations [GEP]

2018-03-01 | GSE103237 | GEO

Transcriptome Study of CD34+ hematopoietic progenitor from patients reached of Primary Myelofibrosis

Project description:An increased number of circulating CD34+ hematopoietic progenitors (HP) and a prominent amplification of dystrophic megakaryocytes (MK) are observed in PMF patients. As transcriptome data from CD34+ hematopoietic progenitors showed modulations of FLT3 and MAP kinase expression independently of the JAK2V617F mutation status Transcriptome analysis was performed on circulating CD34+ cells from PMF patients using Agilent 22K microarray and compared to CD34+ cells from blood and bone marrow from un-mobilized healthy donors. Indirect map: each tested sample was hybridzed with reference probe

2008-07-29 | E-GEOD-12234 | biostudies-arrayexpress

Gene Expression Profiling in Polycythemia Vera (PV)

Project description:To define the molecular abnormalities at the stem cell level in polycythemia vera (PV), we examined global gene expression in circulating CD34+ cells from 19 JAK2 V617F-positive PV patients and 6 normal individuals using Affymetrix oligonucleotide microarray technology. We observed that CD34+ cell gene expression not only differed between the PV patients and the normal controls but also between men and women PV patients. Based on these gender-specific differences in gene expression, we were able to identify 102 genes differentially regulated concordantly by both men and women, which likely represent a core set of genes whose dysregulation is involved in the pathogenesis of PV. Gene expression was verified by Q-PCR of patient CD34+ cell RNA. Using the 102 gene set and unsupervised hierarchical clustering, the 19 PV patients could be separated in two groups that differed significantly with respect to hemoglobin level, thrombosis frequency, splenomegaly, splenectomy or chemotherapy exposure, leukemic transformation and overall survival. These results were confirmed using top scoring pairs, which identified a different set of 29 genes that independently segregated the 19 patients into the same two clinical groups: those with an aggressive form of the disease (7 patients), and those with an indolent form (12 patients).

2014-08-29 | GSE47018 | GEO

Gene Expression Profiling in Polycythemia Vera (PV)

2014-08-29 | E-GEOD-47018 | biostudies-arrayexpress

Depletion of Jak2V617F MPN-propagating stem cells by interferon-alpha in a murine model of polycythemia vera

Project description:Interferon alpha (IFNa) is an effective treatment for patients with myeloproliferative neoplasms (MPN). In addition to inducing hematological responses in most MPN patients, IFNa reduces the JAK2V617F allelic burden and can render the JAK2V617F mutant clone undetectable in some patients. The precise mechanism underlying these responses is incompletely understood and whether the molecular responses that are seen occur due to the effects of IFNa on JAK2V617F mutant stem cells is debated. Using a murine model of Jak2V617F MPN, we investigated the effects of IFNa on Jak2V617F MPN-propagating stem cells in vivo. We report that IFNa treatment induces hematological responses in the model and causes depletion of Jak2V617F MPN-propagating cells over time, impairing disease transplantation. We demonstrate that IFNa treatment induces cell-cycle activation of Jak2V617F mutant long-term hematopoietic stem cells (LT-HSC) and promotes a predetermined erythroid-lineage differentiation program. These findings provide insights into the differential effects of IFNa on Jak2V617F mutant and normal hematopoiesis and suggest that IFNa achieves molecular remissions in MPN patients through its effects on MPN stem cells. Furthermore, these results support combinatorial therapeutic approaches in MPN, by concurrently depleting dormant JAK2V617F MPN-propagating stem cells with IFNa and targeting the proliferating downstream progeny with JAK2-inhibitors or cytotoxic chemotherapy.

2013-03-09 | GSE44961 | GEO

Depletion of Jak2V617F MPN-propagating stem cells by interferon-alpha in a murine model of polycythemia vera

2013-03-09 | E-GEOD-44961 | biostudies-arrayexpress

Investigating the proteome of red blood cells and reticulocytes in Polycythemia Vera and Essential Thrombocythemia

Project description:The project aims at comparing the effect of the JAK2V617F mutation on protein expression in human erythroid cells in the context of Polycythemia Vera and Essential Thrombocythemia

2022-02-17 | PXD029965 | Pride

Expression data from patients with Essential Thrombocythemia (ET), Polycythemia Vera (PV), Primary Myelofibrosis (PMF)

Project description:Microarrays were used to assess gene expression in patients with ET, PV, and PMF before and after treatment with IFNalpha2 in a paired design.

2018-06-15 | GSE57793 | GEO

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data