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Article

Interface-guided phenotyping of coding variants in the transcription factor RUNX1.

Cell reports - 23 Jul 2024

Ozturk Kivilcim, Panwala Rebecca, Sheen Jeanna, Ford Kyle, Jayne Nathan, Portell Andrew, Zhang Dong-Er, Hutter Stephan, Haferlach Torsten, Ideker Trey, Mali Prashant, Carter Hannah

Abstract excerpt

Single-gene missense mutations remain challenging to interpret. Here, we deploy scalable functional screening by sequencing (SEUSS), a Perturb-seq method, to generate mutations at protein interfaces of RUNX1 and quantify their effect on activities of downstream cellular programs. We evaluate single-cell RNA profiles of 115 mutations in myelogenous leukemia cells and categorize them into three functionally...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38968069
DOI: 10.1016/j.celrep.2024.114436
PMCID: PMC11345852

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