Single-cell analysis of megakaryopoiesis in peripheral CD34+ cells: insights into ETV6-related thrombocytopenia
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ABSTRACT: Using single-cell RNA sequencing (scRNAseq), we investigated ETV6-variant (P214L and F417LTer4) carriers who are affected by constitutional thrombopenia. We demonstrate that ETV6-variant carriers presented transcriptomic aberrant populations of megakaryocytes (MK) and mega-erythroid progenitors (MEP) with affected pathways. We confirmed this bioinformatic analyzes by functional assays. We also demonstrate a bypass of common myeloid progenitors (CMP) during physiologic differentiation from hematopoietic stem/progenitors cells (HSPC) to MK and we identified a new population of MK-primed CMP in our culture model. We raise this analysis as a new exploratory modus operandi for constitutional diseases.
ORGANISM(S): Homo sapiens
PROVIDER: GSE206089 | GEO | 2023/06/15
REPOSITORIES: GEO
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