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DOI 10.1016/j.stem.2026.04.014

Медицинская библиотека · Cell stem cell · 2026

Genotoxicity profiling reveals distinct platform-and cell type-specific effects in therapeutic gene editing for genetic hyperinflammation.

Lei Lei, Kaufmann Masako M, Lao Jessica, Thoulass Gudrun, Ammann Sandra, Xiao Hui, Rhiel Manuel, Dettmer-Monaco Viviane, Grünewald Julian, Andrieux Geoffroy, Alzubi Jamal, Miller Bret R, Weißert Kristoffer, Gräßel Linda, Schell Christoph, Illert Anna L, Joung J Keith, Boerries Melanie, Cornu Tatjana I, Ehl Stephan, Erlacher Miriam, Aichele Peter, Cathomen Toni

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Аннотация

Base editors enable precise correction of point mutations without requiring DNA double-strand breaks, yet platform- and cell type-specific genotoxicities remain incompletely characterized. Here, we applied cytosine base editing (CBE) to disrupt a cryptic splice-site mutation in the Unc13d locus of Jinx mice, a model of familial hemophagocytic lymphohistiocytosis type 3 (FHL3). Efficient editing (62%-89%) in fibroblasts, T cells, and hematopoietic stem cells (HSCs) restored Unc13d splicing, reconstituted cytotoxic T cell function, and protected mice from virus-triggered hyperinflammation after transplantation of edited HSCs. Comparative genotoxicity profiling revealed distinct platform- and cell type-specific patterns: hyperactive CBE induced broader off-target activity and more structural variants than CRISPR-Cas9. Although off-target sequence edits persisted, the stability of CBE-induced chromosomal translocations differed between cell types. These findings establish base editing as a therapeutic strategy for a genetically predisposed hyperinflammatory syndrome and underscore the importance of context-specific safety profiling to guide the clinical translation of genome editors.

Для цитирования: Lei Lei, Kaufmann Masako M, Lao Jessica, Thoulass Gudrun, Ammann Sandra, Xiao Hui, Rhiel Manuel, Dettmer-Monaco Viviane, Grünewald Julian, Andrieux Geoffroy, Alzubi Jamal, Miller Bret R, Weißert Kristoffer, Gräßel Linda, Schell Christoph, Illert Anna L, Joung J Keith, Boerries Melanie, Cornu Tatjana I, Ehl Stephan, Erlacher Miriam, Aichele Peter, Cathomen Toni. Genotoxicity profiling reveals distinct platform-and cell type-specific effects in therapeutic gene editing for genetic hyperinflammation.. Cell stem cell. 2026. DOI: 10.1016/j.stem.2026.04.014.

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