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Blood, 1 June 2004, Vol. 103, No. 11, pp. 4198-4200. Prepublished online as a Blood First Edition Paper on February 5, 2004; DOI 10.1182/blood-2003-10-3471. This Article Full Text Full Text (PDF) Supplemental Table All Versions of this Article: 2003-10-3471v1 103/11/4198    most recent 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 Ding, J. Articles by Ueda, R. Search for Related Content PubMed PubMed Citation Articles by Ding, J. Articles by Ueda, R. Related Collections Hematopoiesis and Stem Cells Hemostasis, Thrombosis, and Vascular Biology Signal Transduction Brief Reports Clinical Trials and Observations Related Article in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  HEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY Brief report Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin Jianmin Ding, Hirokazu Komatsu, Atsushi Wakita, Miyuki Kato-Uranishi, Masato Ito, Atsushi Satoh, Kazuya Tsuboi, Masakazu Nitta, Hiroshi Miyazaki, Shinsuke Iida, and Ryuzo Ueda From the Department of Internal Medicine and Molecular Science, Nagoya City University Graduate School of Medical Science, Nagoya, Japan; Division of Hematology, Department of Internal Medicine, Aichi Medical University School of Medicine, Aichi-gun, Japan; and Kirin Brewery Company Ltd, Tokyo, Japan. One Japanese pedigree of familial essential thrombocythemia (FET) inherited in an autosomal-dominant manner is presented. A unique point mutation, serine 505 to asparagine 505 (Ser505Asn), was identified in the transmembrane domain of the c-MPL gene in all of the 8 members with thrombocythemia, but in none of the other 8 unaffected members in this FET family. The Ba/F3 cells expressing the mutant Asn505 acquired interleukin 3 (IL-3)-independent survival capacity, whereas those expressing wild-type Ser505 did not. The autonomous phosphorylation of Mek1/2 and Stat5b was observed in the mutant Ba/F3 cells in the absence of IL-3. The former was also found in platelets derived from the affected individual in the absence of thrombopoietin. These results show that the Asn505 is an activating mutation with respect to the intracellular signaling and survival of the cells. This is the first report of FET deriving from a dominant-positive activating mutation of the c-MPL gene. 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