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Article

RECQL4, the protein mutated in Rothmund-Thomson syndrome, functions in telomere maintenance.

The Journal of biological chemistry - 2 Jan 2012

Ghosh Avik K, Rossi Marie L, Singh Dharmendra Kumar, Dunn Christopher, Ramamoorthy Mahesh, Croteau Deborah L, Liu Yie, Bohr Vilhelm A

Abstract excerpt

Telomeres are structures at the ends of chromosomes and are composed of long tracks of short tandem repeat DNA sequences bound by a unique set of proteins (shelterin). Telomeric DNA is believed to form G-quadruplex and D-loop structures, which presents a challenge to the DNA replication and repair machinery. Although the RecQ helicases WRN and BLM are implicated in the resolution of telomeric secondary...

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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: 22039056
DOI: 10.1074/jbc.M111.295063
PMCID: PMC3249070

Genes

RECQL4
WRN
BLM
POT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

RECQL4, the protein mutated in Rothmund-Thomson syndrome, functions in telomere maintenance.PMID 22039056Read ↗

The human Rothmund-Thomson syndrome gene product, RECQL4, localizes to distinct nuclear foci that coincide with proteins involved in the maintenance of genome stabilitySemantic proximity Read ↗

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

The involvement of human RECQL4 in DNA double‐strand break repairSemantic proximity Read ↗

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

RECQL4 Promotes DNA End Resection in Repair of DNA Double-Strand BreaksSemantic proximity Read ↗

Human RECQL1 participates in telomere maintenanceSemantic proximity Read ↗

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

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

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

The versatile RECQL4.Semantic proximity Read ↗

An overview of RecQ helicases and related diseases.Semantic proximity Read ↗

Telomere ResQue and preservation—Roles for the Werner syndrome protein and other RecQ helicasesSemantic proximity Read ↗

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