Single-cell transcriptomics reveal synergistic and antagonistic effects of T21 and GATA1s on hematopoiesis
Kaoru Takasaki,
Eric K. Wafula,
Sara S. Kumar
et al.
Abstract:Trisomy 21 (T21), or Down syndrome (DS), is associated with baseline macrocytic erythrocytosis, thrombocytopenia, and neutrophilia, and transient abnormal myelopoiesis (TAM) and myeloid leukemia of DS (ML-DS). TAM and ML-DS blasts both arise from an aberrant megakaryocyte-erythroid progenitor and exclusively express GATA1s, the truncated isoform of GATA1, while germline GATA1s mutations in a non-T21 context lead to congenital cytopenias without a leukemic predisposition. This suggests that T21 and GATA1s pertu… Show more
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