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Article

Minute amounts of helicase-deficient truncated RECQL4 are sufficient for DNA replication.

EMBO reports - 1 Apr 2026

Buco Paula Armina V, Castillo-Tandazo Wilson, Chalk Alistair M, Pilcher Courtney, Holien Jessica K, Heierhorst Jörg, Tan Tiong Y, Koren Amnon, Smeets Monique F, Walkley Carl R

Abstract excerpt

RECQL4, a RecQ family helicase, is essential for DNA replication and genome stability. Mutations in RECQL4 cause severe human disorders yet we do not fully understand its functions, particularly regarding ATP-dependent helicase activity. To understand RECQL4's functions further, we performed a genome-wide forward genetic screen using a murine model harbouring patient-like RECQL4 mutations. We identify KLHDC3, a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41807760
DOI: 10.1038/s44319-026-00727-2
PMCID: PMC13076768

Genes

RECQL4
KLHDC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

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Minute amounts of helicase-deficient truncated RECQL4 are sufficient for DNA replication.PMID 41807760Read ↗

Minute amounts of helicase-deficient truncated RECQL4 are sufficient for DNA replicationSemantic proximity Read ↗

The versatile RECQL4.Semantic proximity Read ↗

The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis.Semantic proximity Read ↗

RECQL4 is not critical for firing of human DNA replication originsSemantic proximity Read ↗

Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells.Semantic proximity Read ↗

RECQL4 is essential for the transport of p53 to mitochondria in normal human cells in the absence of exogenous stressSemantic proximity Read ↗

Dual DNA unwinding activities of the Rothmund-Thomson syndrome protein, RECQ4.Semantic proximity Read ↗

Senescence induced by RECQL4 dysfunction contributes to Rothmund-Thomson syndrome features in mice.Semantic proximity Read ↗

Interaction of RECQ4 and MCM10 is important for efficient DNA replication origin firing in human cellsSemantic proximity Read ↗

The helicase and ATPase activities of RECQL4 are compromised by mutations reported in three human patients.Semantic proximity Read ↗

Human RecQ Helicases in DNA Double-Strand Break RepairSemantic proximity Read ↗

The RECQL4 protein, deficient in Rothmund–Thomson syndrome is active on telomeric D-loops containing DNA metabolism blocking lesionsSemantic proximity Read ↗

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