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This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Arcasoy, M. O. Articles by Forget, B. G. Search for Related Content PubMed PubMed Citation Articles by Arcasoy, M. O. Articles by Forget, B. G. Related Collections Hematopoiesis and Stem Cells Brief Reports Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, 15 April 2002, Vol. 99, No. 8, pp. 3066-3069 BRIEF REPORT A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis Murat O. Arcasoy, Aysen F. Karayal, Harvey M. Segal, Joseph G. Sinning, and Bernard G. Forget From the Department of Medicine, Duke University Medical Center, Durham, NC; Cancer Care of Maine, Bangor; and Department of Internal Medicine, Yale University School of Medicine, New Haven, CT. 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. © 2002 by The American Society of Hematology.   CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: A. Inthal, G. Krapf, D. Beck, R. Joas, M. O. Kauer, L. Orel, G. Fuka, G. Mann, and E. R. Panzer-Grumayer Role of the Erythropoietin Receptor in ETV6/RUNX1-Positive Acute Lymphoblastic Leukemia Clin. Cancer Res., November 15, 2008; 14(22): 7196 - 7204. [Abstract] [Full Text] [PDF] I. V. Libani, E. C. Guy, L. Melchiori, R. Schiro, P. Ramos, L. Breda, T. Scholzen, A. Chadburn, Y. Liu, M. Kernbach, et al. Decreased differentiation of erythroid cells exacerbates ineffective erythropoiesis in {beta}-thalassemia Blood, August 1, 2008; 112(3): 875 - 885. [Abstract] [Full Text] [PDF] J. Fang, M. Menon, W. Kapelle, O. Bogacheva, O. Bogachev, E. Houde, S. Browne, P. Sathyanarayana, and D. M. Wojchowski EPO modulation of cell-cycle regulatory genes, and cell division, in primary bone marrow erythroblasts Blood, October 1, 2007; 110(7): 2361 - 2370. [Abstract] [Full Text] [PDF] S. Rives, H. L. Pahl, L. Florensa, B. Bellosillo, A. Neusuess, J. Estella, K.-M. Debatin, E. Kohne, K. Schwarz, and H. Cario Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis Haematologica, May 1, 2007; 92(5): 674 - 677. [Abstract] [Full Text] [PDF] A. Tefferi Polycythemia Vera: A Comprehensive Review and Clinical Recommendations Mayo Clin. Proc., February 1, 2003; 78(2): 174 - 194. [Abstract] [PDF]

	Copyright © 2002 by American Society of Hematology         Online ISSN: 1528-0020