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Biology subjects

Jassinskaja, M.

Publications and source records attributed to Jassinskaja, M..

3 recordsLinked to original sources

A scalable in vitro cell competition model identifies preleukemic super competitor clones

Preleukemic and leukemic conditions are frequently characterized by the acquisition of recurrent genetic mutations in hematopoietic stem cells (HSCs). One of the most frequently mutated genes in both clonal hematopoiesis and myeloid malignancies is the ten-eleven translocation 2 (TET2) gene, which encodes an epigenetic enzyme with a critical role in the regulation of gene transcription. While substantial work has shown that TET2 loss-of-function mutations lead to a clonal advantage, the underpinning cellular mechanism remains unclear, especially with respect to the early interactions with other cells. To study these early cell interactions of mutant and non-mutant cells, we developed an in vitro clonal competition platform where single-cell derived cultures are split into subclonal fractions which can be simultaneously cross-competed against multiple different clones of an opposing genotype. We identify a novel preleukemic cell phenotype that parallels the developmental biology phenomenon of super-competition, whereby ~10% of TET2-mutant clones actively and selectively suppress wild type (WT) cell expansion and, in some cases, completely eliminate WT clones. Molecular profiling and functional assays point to RAC1-GEF signalling inhibition as a specific WT cell vulnerability that is promoted, and tolerated, by neighbouring TET2-mutated clones. In addition to pinpointing selective drivers of non-mutant cell suppression, this clonal competition platform offers a broadly applicable new approach to study cell competition dynamics at an unprecedented scale.

cancer biology↗

Selection of pre-leukemic hematopoietic stem cells driven by distinct extracellular matrix molecules

Despite rapid advances in mapping genetic drivers and gene expression changes in hematopoietic stem cells (HSCs), there is a relative paucity of studies at the protein level. Here, we perform a deep, multi-omic characterization (epigenome, transcriptome and proteome) of HSCs carrying a loss-of-function mutation in Tet2, a key driver of increased self-renewal in blood cancers. Using state-of-the-art, multiplexed, low-input mass spectrometry (MS)-based proteomics, we profile wildtype (WT) and TET2-deficient (Tet2-/-) HSCs and show that the proteome captures previously unrecognized molecular processes which define the pre-leukemic HSC molecular landscape. Specifically, we obtain more accurate stratification of WT and Tet2-/- HSCs than transcriptomic approaches and identify extracellular matrix (ECM) molecules as novel points of dysregulation upon TET2 loss. HSC expansion assays using ECM-functionalized hydrogels confirm a selective effect on the expansion of Tet2-mutant HSCs. Taken together, our study represents a comprehensive molecular characterization of Tet2-mutant HSCs and identifies a previously unanticipated role of ECM molecules in regulating self-renewal of disease-driving HSCs.

cell biology↗

A highly efficient reporter system for identifying and characterizing in vitro expanded hematopoietic stem cells

Hematopoietic stem cells (HSCs) cultured outside the body are the fundamental component of a wide range of cellular and gene therapies. Recent efforts have achieved more than 200-fold expansion of functional HSCs, but their molecular characterization has not been possible due to the substantial majority of cells being non-HSCs and single cell-initiated cultures displaying substantial clone-to-clone variability. Using the Fgd5 reporter mouse in combination with the EPCR surface marker, we report exclusive identification of HSCs from non-HSCs in expansion cultures. Linking single clone functional transplantation data with single clone gene expression profiling, we show that the molecular profile of expanded HSCs is similar to actively cycling fetal liver HSCs and shares a gene expression signature with functional HSCs from all sources, including Prdm16, Fstl1 and Palld. This new tool can now be applied to a wide-range of functional screening and molecular experiments previously not possible due to limited HSC numbers.

cell biology↗