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A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis.

Publication ,  Journal Article
Arcasoy, MO; Karayal, AF; Segal, HM; Sinning, JG; Forget, BG
Published in: Blood
April 15, 2002

Primary familial erythrocytosis (familial polycythemia) is a rare myeloproliferative disorder with an autosomal dominant mode of inheritance. We studied a new kindred with autosomal dominantly inherited familial erythrocytosis. The molecular basis for the observed phenotype of isolated erythrocytosis is heterozygosity for a novel nonsense mutation affecting codon 399 in exon 8 of the erythropoietin receptor (EPOR) gene, encoding an EpoR peptide that is truncated by 110 amino acids at its C-terminus. The new EPOR gene mutation 5881G>T was found to segregate with isolated erythrocytosis in the affected family and this mutation represents the most extensive EpoR truncation reported to date, associated with familial erythrocytosis. Erythroid progenitors from an affected individual displayed Epo hypersensitivity in in vitro methylcellulose cultures, as indicated by more numerous erythroid burst-forming unit-derived colonies in low Epo concentrations compared to normal controls. Expression of mutant EpoR in interleukin 3-dependent hematopoietic cells was associated with Epo hyperresponsiveness compared to cells expressing wild-type EpoR.

Duke Scholars

Published In

Blood

DOI

ISSN

0006-4971

Publication Date

April 15, 2002

Volume

99

Issue

8

Start / End Page

3066 / 3069

Location

United States

Related Subject Headings

  • Transfection
  • Receptors, Erythropoietin
  • Polycythemia
  • Pedigree
  • Mice
  • Male
  • Immunology
  • Humans
  • Heterozygote
  • Hematopoietic Stem Cells
 

Citation

APA
Chicago
ICMJE
MLA
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Arcasoy, M. O., Karayal, A. F., Segal, H. M., Sinning, J. G., & Forget, B. G. (2002). A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis. Blood, 99(8), 3066–3069. https://doi.org/10.1182/blood.v99.8.3066
Arcasoy, Murat O., Aysen F. Karayal, Harvey M. Segal, Joseph G. Sinning, and Bernard G. Forget. “A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis.Blood 99, no. 8 (April 15, 2002): 3066–69. https://doi.org/10.1182/blood.v99.8.3066.
Arcasoy MO, Karayal AF, Segal HM, Sinning JG, Forget BG. A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis. Blood. 2002 Apr 15;99(8):3066–9.
Arcasoy, Murat O., et al. “A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis.Blood, vol. 99, no. 8, Apr. 2002, pp. 3066–69. Pubmed, doi:10.1182/blood.v99.8.3066.
Arcasoy MO, Karayal AF, Segal HM, Sinning JG, Forget BG. A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis. Blood. 2002 Apr 15;99(8):3066–3069.

Published In

Blood

DOI

ISSN

0006-4971

Publication Date

April 15, 2002

Volume

99

Issue

8

Start / End Page

3066 / 3069

Location

United States

Related Subject Headings

  • Transfection
  • Receptors, Erythropoietin
  • Polycythemia
  • Pedigree
  • Mice
  • Male
  • Immunology
  • Humans
  • Heterozygote
  • Hematopoietic Stem Cells