ABSTRACT Mutations of the _GATA1_ gene on chromosome X have been found in almost all cases of transient myeloproliferative disorder and acute megakaryoblastic leukemia (AMKL) accompanying

Down syndrome (DS). Although most _GATA1_ mutations lead to the expression of GATA1s lacking the N-terminal activation domain, we recently found two novel GATA1 proteins with defects in

another N-terminal region. It has been suggested that loss of the N-terminal portion of GATA1 might interfere with physiological interactions with the critical megakaryocytic transcription

factor RUNX1, and this would imply that GATA1s is not able to interact properly with RUNX1. However, the interaction domain of GATA1 remains controversial. In this study, we show that GATA1

data indicate that physical interaction and synergy between GATA1 and RUNX1 are retained in DS-AMKL, although it is still possible that increased _RUNX1_ activity plays a role in the

development of leukemia in DS. Access through your institution Buy or subscribe This is a preview of subscription content, access via your institution ACCESS OPTIONS Access through your

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our FAQs * Contact customer support SIMILAR CONTENT BEING VIEWED BY OTHERS MECHANISM OF _KIT_ GENE REGULATION BY GATA1 LACKING THE N-TERMINAL DOMAIN IN DOWN SYNDROME–RELATED MYELOID

DISORDERS Article Open access 29 November 2022 FUNCTIONAL CHARACTERIZATION OF COOPERATING _MGA_ MUTATIONS IN _RUNX1::RUNX1T1_ ACUTE MYELOID LEUKEMIA Article Open access 07 March 2024

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Biol Chem_ 1997; 272: 26236–26246. Article  CAS  Google Scholar  Download references ACKNOWLEDGEMENTS This work was supported in part by Grants-in-Aid for Scientific Research, Grants-in-Aid

for Scientific Research on Priority Areas from the Ministry of Education, Science, Sports and Technology, and a Grant for Priority Research Designated by the President of Hirosaki

University. AUTHOR INFORMATION Author notes * G Xu and R Kanezaki: These authors contributed equally to this work AUTHORS AND AFFILIATIONS * Department of Pediatrics, Hirosaki University

School of Medicine, Hirosaki, Japan G Xu, R Kanezaki, T Toki, S Watanabe, Y Takahashi, K Terui & E Ito * Department of Anatomy, Hirosaki University School of Medicine, Hirosaki, Japan S

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RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Xu, G., Kanezaki, R., Toki, T. _et al._ Physical association of the patient-specific GATA1 mutants with

RUNX1 in acute megakaryoblastic leukemia accompanying Down syndrome. _Leukemia_ 20, 1002–1008 (2006). https://doi.org/10.1038/sj.leu.2404223 Download citation * Received: 25 January 2006 *

Accepted: 15 February 2006 * Published: 20 April 2006 * Issue Date: 01 June 2006 * DOI: https://doi.org/10.1038/sj.leu.2404223 SHARE THIS ARTICLE Anyone you share the following link with

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content-sharing initiative KEYWORDS * Down syndrome * transient myeloproliferative disorder * acute megakaryoblastic leukemia * GATA1 * RUNX1