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Article

Differential expression of a disease-associated MRE11 variant reveals distinct phenotypic outcomes.

Human molecular genetics - 18 Nov 2025

DeFoer McKenna B, Mostafa Ahmed M, Hartlerode Andrea J, Orban Steven K, McDonough Keegan, Quirk Sophie, Ferguson Brianna K L, Ferguson David O, Sekiguchi JoAnn M

Abstract excerpt

The MRE11 DNA nuclease plays central roles in the repair of DNA double-strand breaks (DSBs) as a core component of the MRE11-RAD50-NBS1 (MRN) complex. MRN localizes to chromosomal DSBs and recruits and activates the DSB repair protein kinase, ATM, which phosphorylates downstream substrates to elicit cellular DNA damage responses. Pathogenic variants in MRE11 cause the genome instability disorder...

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Source

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Identifiers

PMID: 41075274
DOI: 10.1093/hmg/ddaf154
PMCID: PMC13377461

Genes

MRE11
ATM
RAD50

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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