RGD Reference Report - Selective expression of mRNA coding for the truncated form of erythropoietin receptor in hematopoietic cells and its decrease in patients with polycythemia vera. - Rat Genome Database

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Selective expression of mRNA coding for the truncated form of erythropoietin receptor in hematopoietic cells and its decrease in patients with polycythemia vera.

Authors: Chiba, S  Takahashi, T  Takeshita, K  Minowada, J  Yazaki, Y  Ruddle, FH  Hirai, H 
Citation: Chiba S, etal., Blood. 1997 Jul 1;90(1):97-104.
RGD ID: 11041603
Pubmed: PMID:9207443   (View Abstract at PubMed)

The mRNA encoding full-length erythropoietin (EPO) receptor (EPOR-F) comprises exons I through VIII. Another membrane-bound EPOR (EPOR-T) isoform has a truncated cytoplasmic region and is encoded by the mRNA containing unspliced intron VII (EPOR-T mRNA). EPOR-T is believed to have a dominantly negative function against EPOR-F. We show that EPOR-T mRNA is markedly decreased in the blood cells of patients with polycythemia vera (PV). We also show that EPOR-T mRNA is not detected in erythroid/megakaryocytic leukemia cell lines, but is expressed in nonerythroid/nonmegakaryocytic lines, suggesting the presence of a cell type-specific system by which intron VII of the EPOR transcript is spliced. Deregulation of this splicing system in early hematopoietic progenitors possibly explains the profound decrease in EPOR-T mRNA and consequent pathophysiology of PV.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
polycythemia vera  IEP 11041603mRNA:decreased expression:blood cell:RGD 
polycythemia vera  ISOEPOR (Homo sapiens)11041603; 11041603mRNA:decreased expression:blood cell:RGD 

Objects Annotated

Genes (Rattus norvegicus)
Epor  (erythropoietin receptor)

Genes (Mus musculus)
Epor  (erythropoietin receptor)

Genes (Homo sapiens)
EPOR  (erythropoietin receptor)


Additional Information