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Blood, 15 October 2003, Vol. 102, No. 8, pp. 2960-2968. Prepublished online as a Blood First Edition Paper on June 19, 2003; DOI 10.1182/blood-2003-02-0390. This Article Full Text Full Text (PDF) All Versions of this Article: 2003-02-0390v1 102/8/2960    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 Xu, G. Articles by Ito, E. Search for Related Content PubMed PubMed Citation Articles by Xu, G. Articles by Ito, E. Related Collections Hematopoiesis and Stem Cells Neoplasia Gene Expression Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  NEOPLASIA Frequent mutations in the GATA-1 gene in the transient myeloproliferative disorder of Down syndrome Gang Xu, Masumi Nagano, Rika Kanezaki, Tsutomu Toki, Yasuhide Hayashi, Takeshi Taketani, Tomohiko Taki, Tetsuo Mitui, Kenichi Koike, Koji Kato, Masue Imaizumi, Isao Sekine, Yasuhiko Ikeda, Ryoji Hanada, Masahiro Sako, Kazuko Kudo, Seiji Kojima, Osamu Ohneda, Masayuki Yamamoto, and Etsuro Ito From the Department of Pediatrics, Hirosaki University School of Medicine, Hirosaki, Japan; the Center for TARA and Institute of Basic Science, University Tsukuba, Tsukuba, Japan; the Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan; the Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan; the Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan; the Department of Pediatrics, The First Nagoya Red Cross Hospital, Nagoya, Japan; the Department of Pediatric Hematology and Oncology, Tohoku University School of Medicine, Sendai, Japan; the Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan; the Department of Pediatrics, Aomori City Hospital, Aomori, Japan; the Division of Hematology/Oncology, The Saitama Children's Medical Center, Saitama, Japan; the Department of Pediatrics, Osaka City General Hospital, Osaka, Japan; and the Department of Pediatrics, Nagoya University School of Medicine, Nagoya, Japan. Transient myeloproliferative disorder (TMD) is a leukemoid reaction occurring occasionally in Down syndrome newborn infants. Acute megakaryocytic leukemia (AMKL) develops in approximately 20% to 30% of the cases with TMD. Recently, acquired mutations in the N-terminal activation domain of the GATA-1 gene, encoding the erythroid/megakaryocytic transcription factor GATA-1, have been reported in Down syndrome–related AMKL (DS-AMKL). To understand the multistep leukemogenesis in Down syndrome, GATA-1 mutations were investigated in patients with TMD. We show here that mutations in the GATA-1 gene were detected in 21 of 22 cases with TMD. Most of the mutations in TMD were located in the regions including exon 2 and were essentially identical to those observed in DS-AMKL. In the DS-AMKL cell line, MGS, which itself expresses only a truncated mutant of GATA-1, expression of full-length GATA-1 induced the differentiation toward the erythroid lineage. However, expression of the short form of GATA-1 did not induce erythroid differentiation. These results indicate that expression of GATA-1 with a defective N-terminal activation domain contributes to the expansion of TMD blast cells and that other genetic changes contribute to the development of AMKL in Down syndrome. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: S. Hoeller, M. P. Bihl, A. Tzankov, T. Kuehne, C. Potthoff, and E. Bruder New GATA1 mutation in codon 2 leads to the earliest known premature stop codon in transient myeloproliferative disorder Blood, October 22, 2009; 114(17): 3717 - 3718. [Full Text] [PDF] D. C. Cabelof, H. V. Patel, Q. Chen, H. van Remmen, L. H. Matherly, Y. Ge, and J. W. Taub Mutational spectrum at GATA1 provides insights into mutagenesis and leukemogenesis in Down syndrome Blood, September 24, 2009; 114(13): 2753 - 2763. [Abstract] [Full Text] [PDF] S. 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