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bioRxiv · 10.1101/2024.07.05.602247

Cell sorting based on single nucleotide variation enables characterization of mutation-dependent transcriptome and chromatin states.

Salatino, R.·Franco, M.·Romero-Toledo, A.·Wang, Y.·Tsuda, S.·Szentirmai, O.·Janiszewska, M.
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Abstract

Single nucleotide variants (SNVs) contribute to cancer by altering the coding and the non-coding regions of the genome. Connecting SNVs to transcriptomic and epigenetic changes at the single-cell level remains challenging. To enable studies of rare cell populations harboring specific point mutations, we developed STAR-FACS, Specific-To-Allele PCR-FACS, to sort cells based on genomic allele alterations. We show that STAR-FACS can separate cells based on TERT promoter mutation status and is compatible with bulk and single-cell transcriptomic and epigenetic profiling. We demonstrate that glioblastoma cell lines derived from the same tumor but harboring distinct TERT promoter SNVs have different transcriptional programs.

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Salatino, R., Franco, M., Romero-Toledo, A., Wang, Y., Tsuda, S., Szentirmai, O., Janiszewska, M.. 2024-07-08. Cell sorting based on single nucleotide variation enables characterization of mutation-dependent transcriptome and chromatin states.. https://doi.org/10.1101/2024.07.05.602247

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