ERCC6L2 ensures repair fidelity for staggered-end DNA double-strand breaks

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Authors: Eric J. Aird, Almudena Serrano-Benitez, Sebastian M. Siegner, Elda Cannavò, Rimma Belotserkovskaya, Nadia Gueorguieva, John Fielden, Grégoire Cullot, Sandra Ammann, Aldo S. Bader, Vipul Gupta, Geoffroy Andrieux
+6 more Rebecca Raab, Monica del Rey Gonzalez, Toni Cathomen, Petr Cejka, Jacob E. Corn, Stephen P. Jackson
Cited by: 3
References: 73

Abstract

DNA double-strand breaks (DSBs) both pose threats to genome integrity and are commonly used for genome editing applications. Structural features of DSB ends play key roles in determining DNA repair pathway usage and outcomes during genome editing, but the cellular factors involved in these processes are only partially known. Through genome-wide CRISPRi screening, we identify ERCC6L2 as critical for repairing Cas12a-induced staggered DSBs but irrelevant for Cas9-induced blunt DSBs. We show that ERCC6L2 acts as a protection factor for staggered DSBs with either 5' or 3' polarity, preventing large deletions and translocations stemming from DNA damage induced by Cas12a, TALENs, or dual Cas9 nicks. Furthermore, ERCC6L2 loss hyper-sensitizes cells to multiple staggered DSBs induced by promiscuous Cas12a activity or etoposide-induced TOP2 trapping. By combining genetics and biochemical reconstitution, we find that ERCC6L2 counteracts MRE11-RAD50-NBS1 (MRN)-mediated resection by binding and melting staggered DNA ends, thereby promoting accurate end joining. Our data reveal a protective role of ERCC6L2 in staggered-end DSB repair, which suggests the molecular underpinnings of pathology in patients with ERCC6L2 mutations and cautions against using overhang-inducing genome editing tools for their treatment.

Fields of Study & Subjects

CRISPR and Genetic Engineering DNA Repair Mechanisms Genetic Neurodegenerative Diseases

Publication details

Journal / source
Nature Communications
Publisher
Springer Science and Business Media LLC
Volume
17
Issue
1
Publication date
25 February 2026
Language
EN