What question did this study set out to answer?

To develop and validate GenoPrime-Perturb-seq for assessing individual GATA2 variants' functionality.

December 8, 2025Blood

Genoprime-Perturb-seq: Functional dissection of GATA2 variants via simultaneous Genotyping-coupled Prime-editing Perturb-seq

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Authors

YSYuichiro SembaKyushu University TYTakuya YamamotoHamamatsu University School of Medicine TTTaro TsujimuraKyoto University

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Implication

Novel GenoPrime-Perturb-seq technology assesses individual GATA2 variants in hematopoietic stem cells, indicating its potential to clarify variant pathogenicity.

Key Points

To develop and validate GenoPrime-Perturb-seq for assessing individual GATA2 variants' functionality.
Developed GenoPrime-Perturb-seq for single-cell genotyping and transcriptomic profiling.
Applied the platform to KU812 cells with GATA2 variant introductions.
Performed bulk prime editing screens on iPSC-to-hematopoietic progenitor cell differentiation models.
GenoPrime-Perturb-seq achieved high classification accuracy with AUC > 0.9 in ROC analysis.
Distinct transcriptomic profiles observed for R330* and L359V GATA2 mutations.
Some 'loss-of-function' variants enhanced HPC development contrary to expectations.

Cite This Study

Semba et al. (2025) studied this question.

synapsesocial.com/papers/69362f444fa91c937236d641 https://doi.org/10.1182/blood-2025-3215

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Implication

Novel GenoPrime-Perturb-seq technology assesses individual GATA2 variants in hematopoietic stem cells, indicating its potential to clarify variant pathogenicity.

Genoprime-Perturb-seq: Functional dissection of GATA2 variants via simultaneous Genotyping-coupled Prime-editing Perturb-seq

Discussion

Member takes

Implication

Key Points

Cite This Study

Genoprime-Perturb-seq: Functional dissection of GATA2 variants via simultaneous Genotyping-coupled Prime-editing Perturb-seq

Discussion

Member takes

Implication

Key Points

Cite This Study

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