Stepwise GATA1 and SMC3 mutations alter megakaryocyte differentiation in a Down syndrome leukemia model.

doi:10.1172/JCI156290

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Article

Stepwise GATA1 and SMC3 mutations alter megakaryocyte differentiation in a Down syndrome leukemia model.

The Journal of clinical investigation - 15 Jul 2022

Arkoun Brahim, Robert Elie, Boudia Fabien, Mazzi Stefania, Dufour Virginie, Siret Aurélie, Mammasse Yasmine, Aid Zakia, Vieira Matthieu, Imanci Aygun, Aglave Marine, Cambot Marie, Petermann Rachel, Souquere Sylvie, Rameau Philippe, Catelain Cyril, Diot Romain, Tachdjian Gérard, Hermine Olivier, Droin Nathalie, Debili Najet, Plo Isabelle, Malinge Sébastien, Soler Eric, Raslova Hana, Mercher Thomas, Vainchenker William

Abstract excerpt

Acute megakaryoblastic leukemia of Down syndrome (DS-AMKL) is a model of clonal evolution from a preleukemic transient myeloproliferative disorder requiring both a trisomy 21 (T21) and a GATA1s mutation to a leukemia driven by additional driver mutations. We modeled the megakaryocyte differentiation defect through stepwise gene editing of GATA1s, SMC3+/-, and MPLW515K, providing 20 different T21 or disomy 21...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35587378
DOI: 10.1172/JCI156290
PMCID: PMC9282925

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