An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia (original) (raw)
References
Murphy, S., Peterson, P., Hand, H. & Laszlo, J. Experience of the Polycythemia Vera Study Group with essential thrombocythemia: a final report on diagnostic criteria, survival, and leukemic transition by treatment. Semin. Hematol.34, 29–39 (1997) CASPubMed Google Scholar
Pickers, M. & Speck, B. Thrombocythaemia: familial occurrence and transition into blastic crisis. Acta Haematol.51, 257–265 (1974) Article Google Scholar
Slee, P.H.T.J., van Everdingen, J.J.E., Geraedts, J.P.M., te Velde, J. & den Ottolander, G.J. Familial myeloproliferative disease. Acta Med. Scand.210, 321–327 (1981) ArticleCAS Google Scholar
Eyster, M.E. et al. Familial essential thrombocythemia. Am. J. Med.80, 497–502 (1986) ArticleCAS Google Scholar
Fernandez-Robles, E., Vermylen, C., Martiat, P., Ninane, J. & Cornu, G. Familial essential thrombocythemia. Pediatr. Hematol. Oncol.7, 373–376 (1990) ArticleCAS Google Scholar
Williams, E.G. & Shahidi, NT. Benign familial thrombocytosis. Am. J. Hematol.37, 124–125 (1991) ArticleCAS Google Scholar
Schlemper, R.J., van der Maas, A.P.C. & Eikenboom, J.C.J. Familial essential thrombocythemia: clinical characteristics of 11 cases in one family. Ann. Hematol.68, 153–158 (1994) ArticleCAS Google Scholar
Kikuchi, M. et al. Familial thrombocytosis. Br. J. Haematol.89, 900–902 (1995) ArticleCAS Google Scholar
Kaushansky, K. Thrombopoietin: understanding and manipulating platelet production. Annu. Rev. Med.48, 1–11 (1997) ArticleCAS Google Scholar
Eaton, D.L. & de Sauvage, F.J. Thrombopoietin: the primary regulator of megakaryocytopoiesis and thrombopoiesis. Exp. Hematol.25, 1–7 (1997) CASPubMed Google Scholar
van Dijken, P.J., Woldendorp, K.H. & van Wouwe, J.P. Familial thrombocytosis in infancy presenting with a leukaemoid reaction. Acta Paediatr.85, 1132–1134 (1996) ArticleCAS Google Scholar
Kaushansky, K. et al. Promotion of megakaryocyte progenitor expansion and differentiation by thec-MpI ligandthrombopoietin. Nature369, 568–571 (1994) ArticleCAS Google Scholar
Zhou, W., Toombs, C.F., Zou, T., Quo, J. & Robinson, M.O. Transgenic mice overexpressing human c-mpl ligand exhibit chronic thrombocytosis and display enhanced recovery from 5-fluorouracil or antiplatelet serum treatment. Blood89, 1551–1559 (1997) CASPubMed Google Scholar
Van, X.Q. et al. Chronic exposure to retroviral vector encoded MGDF (mpl-ligand) induces lineage-specific growth and differentiation of megakaryocytes in mice. Blood, 86, 4025–4033 (1995) Google Scholar
Tahara, T. et al. A sensitive sandwich ELISA for measuring thrombopoietin inhuman serum: serum thrombopoietin levels in healthy volunteers and in patients with haemopoietic disorders. Br. J. Haematol.93, 783–788 (1996) ArticleCAS Google Scholar
Krawczak, M., Reiss, J. & Cooper, D.N. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum. Genet.90, 41–54 (1992) ArticleCAS Google Scholar
Chang, M.S. et al. Cloning and characterization of the human megakaryocyte growth and development factor (mgdf) gene. J. Biol. Chem.270, 511–514 (1995) ArticleCAS Google Scholar
Sohma, Y. et al. Molecular cloning and chromosomal localization of the human thrombopoietin gene. FEBS Lett353, 57–61 (1994) ArticleCAS Google Scholar
Kamura, T., Handa, H., Hamasaki, N. & Kitaijma, S. Characterization of the human thrombopoietin gene promoter-a possible role of an Ets transcription factor, E4TF1/GABP. 7. Biol. Chem.272, 11361–11368(1997) ArticleCAS Google Scholar
Nielsen, H., Engelbrecht, E., Brunak, S. & von Heijne, G. Identification of prokaryotic and eukaryotic signal peptides and prediction of their cleavage sites. Protein Eng.10, 1–6 (1997) ArticleCAS Google Scholar
Stoffel, R., Wiestner, A. & Skoda, R.C. Thrombopoietin in thrombocytopenic mice: evidence against regulation at the mRNA level and for a direct regulatory role of platelets. Blood87, 567–573 (1996) CASPubMed Google Scholar
Sachs, A.B., Sarnow, P. & Hentze, M.W. Starting at the beginning, middle, and end: translation initiation in eukaryotes. Cell89, 831–838 (1997) ArticleCAS Google Scholar
Jackson, R.J. & Wickens, M. Translational controls impinging on the 5′-untranslated region and initiatio factor proteins. Curr. Opin. Genet. DeveL7, 233–241 (1997) ArticleCAS Google Scholar
D'Andrea, A.D. Cytokine receptors in congenital hematopoietic disease. N. Engl. J. Med.330, 839–846 (1994) ArticleCAS Google Scholar
Ott, J. A computer program for linkage analysis of general human pedigrees. Am. J. Hum. Genet.28, 528–529 (1967) Google Scholar
Chomczynski, P. & Sachhi, N. Single-step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction. Analyt. Biochem.162, 156–159 (1987) ArticleCAS Google Scholar
Seed, B. & Aruffo, A. Molecular cloning of the CD2 antigen, the T-cell erythrocyte receptor, by a rapid immunoselection procedure. Proc. Natl. Acad. Sci. USA84, 3365–3369 (1987) ArticleCAS Google Scholar
Berger, J., Hauber, J., Hauber, R., Geiger, R. & Cullen, B.R. Secreted placenta! alkaline phosphatase: a powerful new quantitative indicator of gene expression in eukaryotic cells. Gene66, 1–10 (1988) ArticleCAS Google Scholar