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Article

Pathogenic variants in MAEA disrupt DNA replication fork stability and are associated with developmental abnormalities in humans.

Science advances - 29 Aug 2025

Zeinali Elham, Mashayekhi Fatemeh, Farraj Rabih Abou, Hasanni Talah, Caron Marie-Christine, Coulombe Yan, Fitieh Amira, Glover J N Mark, Masson Jean-Yves, Ismail Ismail Hassan

Abstract excerpt

Replication stress (RS) poses a threat to genome stability and drives genomic rearrangements. The homologous recombination (HR) pathway repairs stalled replication forks (RFs) and prevents such instability. Through an E3 ubiquitin ligase screen aimed at identifying regulators of RAD51, we identified macrophage erythroblast attacher (MAEA), a core component of C-terminal to Lish (CTLH) E3 ubiquitin ligase complex,...

Read the complete abstract on PubMed

Topics

Humans
DNA Replication
Rad51 Recombinase
Genomic Instability
Ku Autoantigen
Ubiquitin-Protein Ligases

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Animals

Ubiquitination

Mice

Mutation

Homologous Recombination

Source

Open in PubMed Open full text

Identifiers

PMID: 40880485
DOI: 10.1126/sciadv.adv0381
PMCID: PMC12396331

Genes

MAEA
RAD51

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 18 Oct 2026.

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Pathogenic variants in MAEA disrupt DNA replication fork stability and are associated with developmental abnormalities in humans.PMID 40880485Read ↗

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