Affinage

RECQL4

ATP-dependent DNA helicase Q4 · UniProt O94761

Length
1208 aa
Mass
133.1 kDa
Annotated
2026-06-10
100 papers in source corpus 54 papers cited in narrative 53 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 9/9 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

RECQL4 is a multifunctional RecQ-family enzyme that couples DNA replication initiation to genome maintenance through functionally separable N-terminal and helicase/C-terminal modules (PMID:15960976, PMID:19177149, PMID:21256165). Its N-terminal Sld2-like domain is the engine of origin firing: it is essential for replication initiation in egg extracts, loading onto chromatin after pre-RC assembly but before replicative polymerases, where it physically engages TopBP1/Cut5 through a homeodomain-like fold in its first 54 residues and drives chromatin loading of DNA polymerase alpha (PMID:15960976, PMID:16782873, PMID:22730300). In human cells RECQL4 associates with replication origins in a cell-cycle- and CDK/DDK-regulated manner, is required for assembly of the CMG (Cdc45-MCM2-7-GINS) helicase and for origin recruitment of MCM10 and Ctf4/And-1, and promotes efficient origin firing (PMID:19696745, PMID:19805216, PMID:20065033, PMID:25602958, PMID:26588054, PMID:31519754). The conserved central domain confers ATP-dependent 3'-5' helicase activity that unwinds duplex and branched substrates, while a structurally distinct C-terminal region containing zinc clusters and winged-helix elements contributes to DNA binding and unwinding (PMID:19177149, PMID:20451470, PMID:28653661, PMID:27998982); the disordered N-terminus carries multiple DNA-binding sites mediating strand annealing, strand exchange, and high-affinity recognition of G-quadruplex and Holliday-junction structures (PMID:25336622, PMID:25769792, PMID:37875529). RECQL4 participates broadly in DNA repair, promoting end resection in homologous recombination through interactions with the MRN complex and CtIP (PMID:27320928), supporting non-homologous end joining via Ku70/Ku80 and DNA-PKcs (PMID:24942867, PMID:35580045), assisting nucleotide excision repair through XPA (PMID:18693251), and stimulating base excision repair enzymes APE1, pol beta, FEN1, and OGG1 (PMID:19567405, PMID:32432680). It also localizes to telomeres, where it resolves D-loops in cooperation with shelterin proteins and WRN (PMID:22039056), and to mitochondria, where it maintains mtDNA integrity as an accessory factor for polymerase gamma and shuttles p53 to mitochondrial nucleoids (PMID:22296597, PMID:22357944, PMID:24067899). A separate, replication- and repair-independent role positions RECQL4 on the mitotic spindle as a microtubule-associated protein required for chromosome alignment (PMID:30718377). RECQL4 activity and localization are governed by post-translational modification, including p300 acetylation that controls nuclear-cytoplasmic shuttling, DNA-PKcs phosphorylation that promotes NHEJ-factor stabilization, RNF8 and UBE2O/USP7 ubiquitination that control DSB dissociation and HR capacity, and SIRT1 deacetylation that tunes OGG1-dependent base excision repair (PMID:19299466, PMID:32432680, PMID:34921745, PMID:33674555, PMID:35580045). Genetic models establish that the helicase activity is dispensable for viability and hematopoiesis whereas the non-helicase N-terminal and C-terminal functions are essential, with C-terminal truncations causing bone marrow failure (PMID:31276497, PMID:24960165), and that RECQL4 loss is epistatic to p53 activation during skeletogenesis (PMID:25556649).

Mechanistic history

Synthesis pass · year-by-year structured walk · 12 steps
  1. 2005 High

    Established that RECQL4 functions in DNA replication initiation rather than acting solely as a repair helicase, by placing it temporally between pre-RC assembly and origin unwinding.

    Evidence Xenopus egg extract immunodepletion/add-back with chromatin fractionation epistasis (xRTS homolog)

    PMID:15960976

    Open questions at the time
    • Did not identify the molecular partners mediating origin recruitment
    • Left open which domain carries the essential initiation activity
  2. 2006 High

    Localized the essential replication-initiation activity to the N-terminal non-helicase domain and identified TopBP1/Cut5 as its physical partner, defining a Sld2-like origin-firing module distinct from the helicase.

    Evidence Xenopus extract domain rescue, co-IP with Cut5, polymerase alpha loading assay; later refined by NMR of the first 54 residues binding TopBP1 and branched DNA

    PMID:16782873 PMID:22730300

    Open questions at the time
    • Did not resolve the full set of replicative factors downstream of TopBP1 binding
    • Structural basis of polymerase alpha loading unresolved
  3. 2009 High

    Resolved the long-standing question of whether RECQL4 is a true helicase and tied it mechanistically to the replicative machinery, showing it is required for CMG assembly and MCM10/Ctf4 origin recruitment.

    Evidence In vitro helicase assays with purified protein and domain/Walker A mutants; co-IP and ChIP placing RECQL4 in a chromatin complex with MCM2-7/CDC45/GINS/MCM10; BiFC and ChIP at human origins with CDK/DDK inhibition

    PMID:19177149 PMID:19696745 PMID:19759018 PMID:19805216 PMID:20065033 PMID:20451470 PMID:25602958

    Open questions at the time
    • Conflicting early reports on helicase activity reflect substrate/preparation dependence
    • How CMG assembly is coordinated with helicase catalysis at origins not fully defined
  4. 2011 High

    Extended RECQL4 function to repair and telomere maintenance, demonstrating direct partnerships with HR/repair factors and shelterin and biochemical stimulation of repair enzymes.

    Evidence Co-IP and colocalization with RAD51, XPA, APE1/pol beta/FEN1; in vitro D-loop unwinding with TRF1/TRF2/POT1 and WRN; telomere FISH and ChIP

    PMID:16141230 PMID:18693251 PMID:19567405 PMID:22039056 PMID:22544709

    Open questions at the time
    • Relative contribution of each repair pathway in vivo not quantified
    • Whether helicase catalysis vs. scaffolding drives each interaction unclear
  5. 2012 High

    Defined a mitochondrial role for RECQL4, including a p53-shuttling function and modulation of polymerase gamma, expanding its genome-maintenance activity beyond the nucleus.

    Evidence Mitochondrial fractionation/microscopy, mtDNA damage and replication assays, mitochondrial localization-signal mapping, and in vitro Pol gamma binding/activity assays in patient and complemented cells

    PMID:22296597 PMID:22357944 PMID:22824301 PMID:24067899 PMID:24746816

    Open questions at the time
    • How nuclear vs. mitochondrial pools are balanced under physiological conditions not fully resolved
    • Direct enzymatic role of RECQL4 in mtDNA replication versus accessory stimulation of Pol gamma not separated
  6. 2012 Medium

    Connected RECQL4 helicase and C-terminal domains to replication-stress responses and provided the biochemical basis for disease alleles by characterizing the RAPADILINO mutant.

    Evidence Isogenic RECQL4 delta-C cells with IR-specific fork stalling and DNA fiber assays; in vitro characterization of the RAPADILINO exon-7 deletion mutant

    PMID:22508716 PMID:22885111

    Open questions at the time
    • The IR-specific fork-protection mechanism is not molecularly defined
    • Genotype-phenotype mapping across RECQL4 syndromes incomplete
  7. 2014 High

    Mapped the biochemical and structural logic of the N-terminus, showing intrinsically disordered DNA-binding modules confer strand annealing and exceptional G4 affinity.

    Evidence Purified N-terminal fragments in annealing/strand-exchange and quantitative binding assays; Holliday-junction binding mapping; NMR of a Zn-knuckle domain

    PMID:25336622 PMID:25769792 PMID:26888063

    Open questions at the time
    • Cellular substrates of the G4/branched-DNA binding activities not established
    • How these binding modes integrate with helicase catalysis unknown
  8. 2016 High

    Demonstrated that RECQL4 actively promotes DSB end resection in HR by recruiting CtIP to the MRN complex, separating its catalytic and scaffolding contributions.

    Evidence Co-IP with MRN and CtIP, laser-DSB imaging, HR reporter and resection assays, helicase-inactive mutant

    PMID:27320928

    Open questions at the time
    • Order of MRN/CtIP/RECQL4 assembly during resection not fully resolved
    • Single-lab finding without independent reconstitution
  9. 2017 High

    Provided high-resolution structural insight into the RECQL4 catalytic core and C-terminal architecture, revealing a non-canonical RQC and a mechanism more akin to bacterial RecQ.

    Evidence X-ray crystallography of the ATPase core plus C-terminal domain, SAXS, ICP-AES zinc detection, and active-site mutagenesis with in vitro helicase assays

    PMID:27998982 PMID:28653661

    Open questions at the time
    • No full-length structure including the disordered N-terminus
    • Structural basis of substrate selectivity in cells unresolved
  10. 2019 High

    Genetically dissected which RECQL4 activities are essential in vivo, establishing that helicase catalysis is dispensable whereas non-helicase C-terminal functions are required for survival and hematopoiesis.

    Evidence CRISPR knock-in mice (K525A helicase-dead vs. truncating alleles), DT40 domain-rescue, and conditional hematopoietic knockout with helicase-inactive complementation

    PMID:21256165 PMID:24960165 PMID:31276497 PMID:31519754

    Open questions at the time
    • The essential C-terminal molecular activity remains undefined
    • Why helicase-dead protein suffices in some tissues but not after exogenous damage unclear
  11. 2019 High

    Uncovered a replication- and repair-independent mitotic function, identifying RECQL4 as a spindle microtubule-associated protein required for chromosome alignment.

    Evidence Spindle immunofluorescence, Xenopus extract and HeLa depletion, kinetochore-distance measurement, patient fibroblasts, live-cell imaging

    PMID:30718377

    Open questions at the time
    • Microtubule-binding interface not mapped
    • Mechanistic link between RECQL4 and kinetochore tension unresolved
  12. 2022 Medium

    Defined a post-translational regulatory network controlling RECQL4 localization, stability, and DSB dynamics through acetylation, phosphorylation, and ubiquitination.

    Evidence p300 acetylation and SIRT1 deacetylation assays with localization/OGG1 readouts; RNF8 and UBE2O ubiquitination plus USP7 deubiquitination with HR reporters; DNA-PKcs phosphorylation with NHEJ assays

    PMID:19299466 PMID:32432680 PMID:33674555 PMID:34921745 PMID:35580045

    Open questions at the time
    • Crosstalk and hierarchy among the modifications not integrated
    • Several modification-pathway findings rest on single-lab co-IP and reporter data

Open questions

Synthesis pass · forward-looking unresolved questions
  • The molecular identity of the essential helicase-independent C-terminal function — required for viability and hematopoiesis yet biochemically uncharacterized — remains the central open question.
  • No defined biochemical activity or essential partner attributed to the C-terminal essential function
  • Unclear how the spindle, mitochondrial, and replication roles are partitioned in vivo

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0003677 DNA binding 4 GO:0098772 molecular function regulator activity 4 GO:0140097 catalytic activity, acting on DNA 4 GO:0140657 ATP-dependent activity 4 GO:0016787 hydrolase activity 3 GO:0008092 cytoskeletal protein binding 1
Localization
GO:0005739 mitochondrion 3 GO:0005654 nucleoplasm 2 GO:0000228 nuclear chromosome 1 GO:0005730 nucleolus 1
Pathway
R-HSA-69306 DNA Replication 6 R-HSA-73894 DNA Repair 6 R-HSA-1852241 Organelle biogenesis and maintenance 3 R-HSA-1640170 Cell Cycle 1
Partners
CTIPDNA-PKCSKU70MCM10OGG1POLGTOPBP1TRF2
Complex memberships
CMG (Cdc45-MCM2-7-GINS) replication helicaseKu70/Ku80-DNA-PKcs (NHEJ)MRN (MRE11-RAD50-NBS1) complexshelterin (TRF1/TRF2/POT1)

Evidence

Reading pass · 53 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1999 RECQL4 protein localizes to the nucleus (nucleoplasm) in HeLa cells, as determined by immunocytochemical analysis. Immunocytochemistry in HeLa cells Genomics Medium 10552928
2005 The Xenopus RECQL4 homolog (xRTS) is essential for DNA replication initiation in egg extracts; it loads onto chromatin after pre-RC proteins but before replicative polymerases, and its depletion prevents RPA loading at origins, placing it between pre-RC assembly and origin unwinding. Xenopus egg extract depletion/add-back, chromatin fractionation, immunodepletion epistasis Cell High 15960976
2006 The N-terminal non-helicase domain of Xenopus RecQ4 is necessary and sufficient for DNA replication initiation in egg extracts; it physically interacts with Cut5 (TopBP1/Dpb11 ortholog) and is required for chromatin loading of DNA polymerase alpha. Xenopus egg extract depletion/rescue with N-terminal fragments, co-immunoprecipitation with Cut5, antibody inhibition assays Molecular and cellular biology High 16782873
2005 Purified human RECQ4 has DNA-stimulated ATPase activity (preferentially activated by ssDNA requiring ≥60 nt for maximal stimulation; minimal binding site 20–40 nt), and strand-annealing activity inhibited by RPA; no DNA helicase activity was detected. In vitro ATPase assay, strand-annealing assay, helicase assay with purified recombinant RECQ4 DNA repair High 16214424
2009 RECQL4 exhibits two distinct ATP-dependent DNA unwinding activities: one from the conserved helicase motifs and one from the Sld2-like N-terminal domain, each capable of independently promoting strand separation. In vitro helicase assay with purified recombinant RECQL4 and domain deletion mutants The EMBO journal High 19177149
2009 RECQL4 co-purifies in a chromatin-bound complex with MCM2-7, CDC45, GINS, and MCM10 from human cells; MCM10 directly interacts with RECQL4, regulates its DNA unwinding activity, and is essential for RECQL4-MCM complex integrity; complex formation and origin association are cell-cycle regulated. Biochemical purification from human cell extracts, co-IP, chromatin immunoprecipitation (ChIP), cell-cycle fractionation The EMBO journal High 19696745
2009 Assembly of the CMG (Cdc45-MCM2-7-GINS) complex in human cells requires RecQL4 (as well as Ctf4/And-1 and Mcm10); stable CMG association was detected only after G1/S transition and required CDK and Cdc7 kinase activities. Bimolecular fluorescence complementation (BiFC) in HeLa cells, siRNA depletion, CDK/DDK inhibitor treatment Proceedings of the National Academy of Sciences of the United States of America High 19805216
2009 Purified RECQL4 expressed in insect cells exhibits 3'-5' DNA helicase activity (displaces annealed oligonucleotides in an ATP/Mg-dependent manner) and forms homo-multimers. Baculovirus expression, glycerol-gradient sedimentation, in vitro helicase and ATPase assay Journal of biochemistry Medium 19451148
2010 RecQ4's ATP-dependent helicase activity resides in the conserved helicase domain (Walker A K→A mutation abolishes helicase and ATPase but not annealing); helicase activity is stimulated by RPA; unwinding is independent of strand annealing and does not require excess ssDNA. In vitro helicase/ATPase/annealing assays with purified RecQ4 and Walker A point mutant DNA repair High 20451470
2009 Drosophila RecQ4 has a 3'-5' DNA helicase activity dependent on ATP hydrolysis; a Walker A K→A point mutation abolishes helicase and ATPase but retains annealing; helicase-dead transgenes fail to rescue a recq4 null lethal mutation in flies, demonstrating helicase activity is essential in vivo. Baculovirus expression, in vitro ATPase/helicase/annealing assays, site-directed mutagenesis, Drosophila genetic complementation The Journal of biological chemistry High 19759018
2010 RECQL4 (but not the other three RecQ helicases tested) associates with human replication origins in a cell-cycle-regulated manner: recruited at late G1 after ORC/MCM assembly, augmented at S-phase onset, and lost after initiation; RECQL4 depletion reduces origin firing frequency and nascent-strand DNA synthesis. Chromatin immunoprecipitation (ChIP) at defined replication origins, cell-cycle synchronization, DNA fiber assay, siRNA depletion Molecular and cellular biology High 20065033
2005 Endogenous RECQL4 forms discrete nuclear foci that colocalize with PML bodies; after DSB induction it colocalizes with RAD51 foci and ssDNA, and co-immunoprecipitates with RAD51, implicating RECQL4 in homologous recombination-mediated DSB repair. Immunofluorescence, siRNA knockdown, Co-IP in human cells, laser-induced DSB Journal of cell science Medium 16141230
2008 RecQ4 directly interacts with XPA (nucleotide excision repair factor); this interaction is stimulated by UV irradiation; RecQ4 forms UV-specific nuclear foci colocalizing with XPA and is required for efficient removal of UV-induced lesions. Co-IP, immunofluorescence colocalization, cellular fractionation, NER functional assay (UV survival/lesion removal in RecQ4-deficient cells) The Journal of biological chemistry Medium 18693251
2009 RECQL4 stimulates the apurinic endonuclease activity of APE1, the strand displacement activity of DNA polymerase β, and FEN1 flap endonuclease activity in vitro; in cells RECQL4 colocalizes with APE1 and FEN1 after H2O2 treatment, supporting a direct role in base excision repair. In vitro enzymatic stimulation assays, immunofluorescence colocalization in oxidatively stressed cells, RECQL4-deficient primary fibroblasts Human molecular genetics High 19567405
2004 RECQL4 forms a stable complex with ubiquitin ligases UBR1 and UBR2 (N-end rule pathway) in HeLa cells; the complex retains DNA-stimulated ATPase activity but lacks detectable helicase/translocase activity; RECQL4 in the complex is not ubiquitylated and is a long-lived protein. Affinity purification/co-IP from HeLa cell extracts, in vitro ATPase and helicase assays with complex Human molecular genetics Medium 15317757
2006 A nuclear localization domain resides within amino acids 363–492 of RECQL4 (N-terminus); a 22-aa basic region (365–386) is sufficient for nuclear import of a GFP reporter, and exon 7 (aa 420–463, RAPADILINO deletion) encodes a nuclear retention domain containing a conserved VLPLY motif. GFP fusion constructs in mammalian cells, leptomycin B treatment, deletion mapping Gene Medium 17250975
2006 RECQL4 accumulates in nucleoli specifically in response to oxidative stress (H2O2 or streptonigrin); it interacts with PARP-1 (identified by T7 phage display and confirmed biochemically), and PARP-1 inhibition blocks nucleolar relocalization; the C-terminal portion of RECQL4 is an in vitro substrate for PARP-1. Live-cell imaging with GFP fusions, phage display screen, in vitro PARP-1 substrate assay, PARP-1 inhibitor treatment Experimental cell research Medium 16949575
2009 p300 histone acetyltransferase directly interacts with RECQL4 in vivo and in vitro and acetylates RECQL4 at lysine residues 376, 380, 382, 385, and/or 386 within its nuclear localization motif; acetylation by p300 causes redistribution of RECQL4 from nucleus to cytoplasm by preventing nuclear import. Co-IP (in vivo and in vitro), site-directed mutagenesis of acetylation sites, subcellular fractionation, acetylation assay Journal of cell science High 19299466
2010 RECQL4 is recruited rapidly to laser-induced DSBs in live cells and the N-terminal domain (aa 363–492) mediates DSB recruitment; recruitment is independent of WRN, BLM, or ATM. RECQL4-deficient fibroblasts accumulate more γH2AX and 53BP1 foci after γ-irradiation. Real-time laser confocal microscopy in live cells, domain mapping with deletion constructs, γH2AX/53BP1 immunofluorescence in RECQL4-deficient fibroblasts Aging cell Medium 20222902
2012 RECQL4 localizes to mitochondria in human and mouse cells (confirmed by microscopy and cellular fractionation); RECQL4-deficient cells accumulate mtDNA damage and show reduced mitochondrial reserve capacity; mitochondrial polymerase γ inhibits RECQL4 helicase activity in biochemical assays. Fluorescence microscopy, cellular fractionation, Q-PCR for mtDNA damage, Seahorse bioenergetics assay, in vitro helicase inhibition assay Aging cell High 22296597
2012 RECQL4 physically interacts with p53 exclusively in the absence of DNA damage; N-terminal amino acids 1–84 of RECQL4 encode a mitochondrial localization signal that transports the RECQL4-p53 complex to mitochondria, masking the p53 NLS; DNA damage disrupts the interaction, allowing nuclear p53 accumulation. RECQL4 also promotes de novo mtDNA replication. Co-IP, deletion mapping, mitochondrial fractionation, immunofluorescence, de novo mtDNA replication assay in patient and complemented cells Journal of cell science High 22357944
2011 RECQL4 localizes to telomeres and physically associates with shelterin proteins TRF1 and TRF2; purified RECQL4 resolves telomeric D-loop structures, stimulated by TRF1, TRF2, and POT1; it cooperates synergistically with WRN in D-loop unwinding. RECQL4-depleted cells accumulate telomeric fragile sites, sister chromosome exchanges, and DSBs. Co-IP/pulldown with recombinant shelterin proteins, in vitro D-loop unwinding assay, telomere FISH, ChIP at telomeres The Journal of biological chemistry High 22039056
2012 RECQL4 physically and functionally interacts with BLM; the interaction maps to RECQL4 aa 361–478 (N-terminus) and BLM aa 1–902; RECQL4 stimulates BLM helicase activity on fork substrates in vitro; interaction is enhanced in S phase and after ionizing radiation; RECQL4 depletion in BLM-deficient cells increases SCE frequency. Co-IP (in vivo and in vitro), in vitro helicase stimulation assay, cell-cycle synchronization, SCE assay Nucleic acids research High 22544709
2013 Both RECQL4 and p53 interact with mitochondrial polymerase γ (PolγA/B2) subunits; RECQL4 binds exonuclease and polymerase domains of PolγA and enhances PolγA DNA binding, thereby potentiating its exonuclease and polymerization activities. Co-IP/pulldown with recombinant proteins, kinetic binding analysis, in vitro polymerase and exonuclease activity assays Carcinogenesis High 24067899
2014 RECQL4 participates in NHEJ: it interacts with Ku70/Ku80 heterodimer via its N-terminal domain, stimulates higher-order DNA binding of Ku70/Ku80 to blunt-ended DNA in vitro, and its depletion reduces end-joining activity both in cell extracts (in vitro NHEJ assay) and on a GFP reporter in vivo. Co-IP (RECQL4-Ku70/Ku80), in vitro NHEJ assay, GFP reporter NHEJ assay in cells, siRNA knockdown, γH2AX/53BP1 foci Carcinogenesis High 24942867
2016 RECQL4 promotes DNA end resection in HR-mediated DSB repair: it physically interacts with MRE11-RAD50-NBS1 (MRN) complex and with CtIP (via its N-terminal domain); MRE11 exonuclease activity regulates RECQL4 retention at DSBs; RECQL4 promotes CtIP recruitment to MRN at DSBs; helicase-inactive RECQL4 impairs end processing without affecting MRE11/CtIP binding. Co-IP in cells, laser-induced DSB imaging, HR reporter assay, resection assay, helicase-inactive mutant, siRNA depletion Cell reports High 27320928
2016 RECQL4 physically interacts with transcription factor YB1 and promotes MDR1 transcription through an AKT-YB1-MDR1 axis; RECQL4 knockdown suppresses YB1 phosphorylation and MDR1 expression, re-sensitizing cisplatin-resistant gastric cancer cells. Co-IP (RECQL4-YB1), siRNA/ectopic expression, Western blot for pYB1 and MDR1, cisplatin sensitivity assay Cancer research Medium 27013200
2012 Two nuclear export signals (NES; pNES2 and pNES3) at the C-terminus of RecQL4 mediate its cytoplasmic/mitochondrial localization; deletion of pNES2 markedly reduces cytoplasmic RecQL4; NES-mediated cytoplasmic RecQL4 is required for maintenance of mtDNA copy number and protection against mitochondrial oxidative DNA damage. GFP-tagged deletion constructs, subcellular fractionation, immunofluorescence, mtDNA copy number assay, mitochondrial superoxide measurement The international journal of biochemistry & cell biology Medium 22824301
2011 The N-terminal region of RECQL4 (aa 1–496), lacking the helicase domain, is both necessary and sufficient for vertebrate cell viability in DT40 cells; smaller N-terminal fragments do not rescue; cells complemented only with this N-terminal region show increased sensitivity to DSB-inducing and crosslink agents, indicating the helicase domain contributes to repair. Conditional DT40 RECQL4 knockout (doxycycline-inducible), rescue with domain truncation constructs, cell viability and DNA damage sensitivity assays Biochimica et biophysica acta High 21256165
2014 The N-terminal intrinsically disordered region of RecQL4 mediates strong strand-annealing activity, ATP-independent strand exchange, and exhibits remarkably high affinity for G-quadruplex (G4) DNA (≥60-fold preference over other structures); multiple DNA-binding sites exist within this domain. Purified N-terminal RecQL4 fragments from E. coli, in vitro annealing/strand-exchange assays, fluorescence binding assays, biophysical characterization Nucleic acids research High 25336622
2012 The first 54 amino acids of RecQL4 form a homeodomain-like fold (structure solved by NMR; PDB 2KMU) and constitute the minimum interaction region with TopBP1; this domain binds branched DNA preferentially over dsDNA or ssDNA. NMR structure determination, pulldown/binding assays with TopBP1, DNA binding assays with various substrates Nucleic acids research High 22730300
2014 A region of RECQL4 (aa 322–400) has very high affinity for Holliday junctions among branched DNA substrates; the N-terminus contains two additional DNA-binding sites that cooperate to promote strand annealing; these activities may contribute to processing replication/recombination intermediates. Purified recombinant RECQL4 fragments, in vitro DNA-binding assays (EMSA), annealing assays DNA repair Medium 25769792
2015 RecQL4 is required for origin-associated binding of Mcm10 and Ctf4 in human cells; CDK and DDK activity is needed for this association; RECQL4-dependent Mcm10/Ctf4 origin recruitment is checkpoint-sensitive; the RECQL4–MCM10 interaction is important for efficient origin firing (demonstrated with MCM10-binding-deficient RECQL4 mutants) but is not required for vertebrate cell viability. ChIP at replication origins, siRNA/dominant-negative experiments, CDK/DDK inhibitors, interaction-deficient RECQL4 mutants in DT40 cells Cell cycle (Georgetown, Tex.) / Oncotarget High 25602958 26588054
2017 Crystal structure of human RecQ4 (ATPase core + novel C-terminal domain) reveals a zinc-binding site and two winged-helix domains distinct from canonical RQC; functional analysis shows these WH domains are not required for DNA binding or helicase activity, suggesting a helicase mechanism more related to bacterial RecQ than to other human family members. X-ray crystallography, site-directed mutagenesis, in vitro helicase/ATPase assays Nature communications High 28653661
2016 Human RecQ4 contains a functional RecQ C-terminal region (RQC) with two zinc clusters and a winged-helix domain; mutagenesis of conserved RQC residues (zinc ligands, β-hairpin aromatic residue) reduces DNA binding, unwinding, and annealing; SAXS indicates a DNA-interaction mode similar to RecQ1. Inductively coupled plasma-AES (zinc detection), site-directed mutagenesis, in vitro helicase/ATPase/annealing assays, SAXS The Journal of biological chemistry High 27998982
2018 RECQL4 physically interacts with Aurora B kinase (AURKB) via its N-terminus (binding to the AURKB catalytic domain) and stabilizes AURKB by inhibiting its ubiquitination; RECQL4 suppression reduces AURKB levels leading to mitotic irregularities and apoptosis; ectopic AURKB rescues these defects. Co-IP (RECQL4-AURKB), domain mapping, ubiquitination assay, siRNA knockdown, rescue with ectopic AURKB, flow cytometry, microscopy Oncogenesis Medium 30206236
2019 RECQL4 is a microtubule-associated protein (MAP) that localizes to the mitotic spindle; its depletion in Xenopus egg extracts and HeLa cells causes chromosome misalignment, increased inter-kinetochore distance, and delayed mitotic progression without affecting spindle assembly; these mitotic roles are independent of RECQL4's DNA replication and repair functions. Immunofluorescence (spindle localization), Xenopus egg extract depletion, kinetochore distance measurement, RECQL4 patient fibroblasts, HeLa siRNA knockdown, live-cell imaging Life science alliance High 30718377
2019 ATP-dependent helicase activity of Recql4 (Walker A K525A knock-in) is dispensable for embryonic development, hematopoiesis, body weight, and physiological DNA damage repair in mice; in contrast, C-terminal truncation mutations that abolish the helicase and C-terminal domain cause profound bone marrow failure, demonstrating that non-helicase C-terminal functions are essential. CRISPR/knock-in mouse (K525A helicase-dead), truncating knock-in alleles (G522Efs, R347*), hematopoietic phenotyping, DNA damage assays PLoS genetics High 31276497
2019 Tethering of RecQL4 (or its N-terminus) to pre-replicative complexes via Orc4 fusion induces early activation of late origins; CDK phosphorylation of the RecQL4 N-terminus is required for And-1/GINS recruitment to origins, but not for Cdc45 recruitment; forced origin activation causes replication stress (ssDNA accumulation) exacerbated by transcription-replication conflicts. Orc4-RecQL4 fusion tethering, CDK inhibitor experiments, ChIP for replication factors, DNA fiber assay, ssDNA detection The Journal of biological chemistry Medium 31519754
2020 RECQL4 physically and functionally interacts with OGG1 (8-oxoG glycosylase); RECQL4 promotes OGG1 catalytic activity; RECQL4 deficiency impairs 8-oxoG repair; oxidative stress increases RECQL4 acetylation and its interaction with OGG1; SIRT1 deacetylates RECQL4 in vitro and in cells, thereby controlling RECQL4-OGG1 interaction and BER of 8-oxoG. Co-IP (RECQL4-OGG1), in vitro OGG1 activity assay, genomic 8-oxoG quantification, acetylation assay, in vitro SIRT1 deacetylation assay, cell-based SIRT1 experiments Nucleic acids research High 32432680
2022 UBE2O mediates multi-monoubiquitination of RECQL4, leading to its proteasomal degradation; ubiquitination attenuates RECQL4 interactions with MRN and CtIP, thereby inhibiting HR-mediated DSB repair; USP7 deubiquitinase counteracts UBE2O by stabilizing RECQL4 and restoring HR function. Co-IP (RECQL4-UBE2O and RECQL4-USP7), ubiquitination assay in cells, HR reporter assay, interaction mapping with MRN/CtIP FASEB journal Medium 34921745
2021 RNF8 (RING finger ubiquitin E3 ligase) directly interacts with RECQL4 and ubiquitinates RECQL4 at K876, K1048, and K1101, facilitating RECQL4 dissociation from DSB sites; a RECQL4 ubiquitination-site mutant shows prolonged DSB retention and blocks CtIP/Ku80 recruitment; WRAP53β enhances the RECQL4-RNF8 interaction and promotes RNF8 recruitment to DSBs. Co-IP, in vitro/in vivo ubiquitination assay, laser DSB imaging, site-directed mutagenesis of ubiquitin acceptor sites, siRNA knockdown Oncogenesis Medium 33674555
2022 RECQL4 directly interacts with DNA-PKcs (interaction increases after IR); RECQL4 promotes DNA end bridging by DNA-PKcs and Ku70/80 in vitro and stabilizes NHEJ factors at DSBs in vivo; DNA-PKcs phosphorylates RECQL4 at six S/T residues; blocking these phosphorylation sites reduces RECQL4 DSB recruitment, weakens NHEJ complex interactions, and decreases NHEJ efficiency. Co-IP, in vitro end-bridging assay, in vitro kinase assay (DNA-PKcs phosphorylation of RECQL4), phospho-site mutagenesis, NHEJ reporter assay, NHEJ factor colocalization at DSBs Nucleic acids research High 35580045
2014 RECQ4 forms protein complexes with PP2A and NPM in the nucleus, and with mitochondrial p32 in the cytoplasm; p32 interaction negatively controls transport of RECQ4 and MCM10 from nucleus to mitochondria; a RAPADILINO cancer-associated RECQ4 deletion mutant cannot bind p32, accumulates in mitochondria, interacts with mitochondrial helicase PEO1, and induces abnormally high mtDNA synthesis. Co-IP/biochemical fractionation, subcellular localization assays, mtDNA synthesis measurement, interaction mapping with deletion mutants Cell reports Medium 24746816
2012 The RAPADILINO RECQL4 mutant protein (exon 7 deletion, p.Ala420-Ala463del) retains strand annealing activity but completely lacks helicase and ssDNA-stimulated ATPase activity, providing biochemical basis for genotype-phenotype relationships in RECQL4 syndromes. Bacterial expression and purification of RAPADILINO mutant protein, in vitro strand annealing, helicase, and ATPase assays Biochimica et biophysica acta High 22885111
2016 Structural and biochemical characterization of the Zn knuckle domain within the N-terminal region of RecQL4 (Xenopus and human): the Xenopus fragment forms a canonical Zn knuckle fold (by NMR); both human and Xenopus fragments bind various nucleic acid substrates with mild RNA preference; an upstream conserved positively charged region strongly enhances nucleic acid binding. NMR spectroscopy (Xenopus fragment structure), in vitro nucleic acid binding assays, domain analysis Scientific reports Medium 26888063
2023 A positively charged intrinsically disordered region (IDR) in human RECQ4 forms coacervates specifically with G-quadruplex (G4) DNA via charge-driven polyelectrolyte complexation; the IDR also forms a distinct ordered complex with RPA, and the two binding modes are mutually exclusive, suggesting regulatory molecular handoffs. In vitro binding/coacervation assays, global kinetic/thermodynamic modeling, fluorescence titration, NMR Nature communications High 37875529
2014 Yeast Hrq1 (budding yeast RecQ4 ortholog) is a robust 3'-5' DNA helicase with DEAH-box ATPase activity; it forms heptameric rings; helicase activity is required for ICL repair but not for suppression of de novo telomere addition; Hrq1 affects telomere length by a non-catalytic mechanism and binds telomeres in vivo. In vitro helicase/ATPase assays, EM structural analysis, genetic epistasis in yeast, ChIP at telomeres, telomere length assays Cell reports High 24440721
2005 p53 represses RECQL4 transcription in a HDAC1-dependent manner: wild-type (but not tumor-derived mutant) p53 represses RECQL4 promoter activity; repression correlates with HDAC1 accumulation and loss of SP1 and p53 binding at the RECQL4 promoter; TSA (HDAC inhibitor) attenuates repression. RECQL4 promoter-reporter assays, chromatin immunoprecipitation (ChIP) for HDAC1/SP1/p53 at promoter, TSA treatment, comparison of wild-type vs. mutant p53 Oncogene Medium 15674334
2015 Loss of Recql4 in skeletal progenitors activates p53 in affected tissues; genetic inactivation of Trp53 rescues the skeletal phenotypes (limb abnormalities, craniosynostosis, growth plate defects) in Recql4 conditional knockout mice, establishing an epistatic in vivo interaction between RECQL4 and p53 during skeletogenesis. Conditional knockout mice (Prx1-Cre and Col2a1-Cre), double Recql4/Trp53 knockout, histology, p53 target gene expression Journal of bone and mineral research High 25556649
2016 RECQL4 mitochondrial functions are required for normal F1F0-ATP synthase activity, mitochondrial membrane potential, and ROS homeostasis; loss of mitochondrial RECQL4 leads to aerobic glycolysis and increased cell invasiveness; the mechanism involves diminished SIRT3 activity and accumulation of catalytically inactive SOD2. Isogenic cell lines with/without mitochondrial RECQL4 localization, ATP synthase activity assay, membrane potential measurement, ROS measurement, SIRT3/SOD2 activity assays, invasion assay Journal of cell science Medium 26906415
2014 Somatic deletion of Recql4 in mouse hematopoietic cells causes rapid bone marrow failure with increased apoptosis in multipotent progenitors, failed HSC transplantability, and impaired cell-cycle progression; concurrent p53 deletion (which rescues BLM deficiency) does not rescue Recql4 loss; a helicase-inactive RECQL4 variant fully rescues hematopoietic defects, demonstrating the essential function is helicase-independent. Conditional Recql4 knockout mice (hematopoietic Cre), bone marrow transplantation, Recql4/Trp53 double KO, complementation with helicase-inactive RECQL4, flow cytometry, cell-cycle analysis The Journal of clinical investigation High 24960165
2012 The helicase domain and C-terminus of human RECQL4 are required for efficient replication elongation on ionizing-radiation-damaged templates; RECQL4ΔC/ΔC cells show IR hypersensitivity and premature replication fork stalling specifically after IR but not after hydroxyurea, distinguishing RECQL4's role from that of BLM. Targeted gene disruption (RECQL4ΔC/ΔC Nalm-6 cells), cell survival assay, DNA fiber assay, S-phase progression analysis Carcinogenesis Medium 22508716

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1999 Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nature genetics 550 10319867
2005 Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome. Cell 244 15960976
2003 Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. Journal of the National Cancer Institute 232 12734318
2008 The mutation spectrum in RECQL4 diseases. European journal of human genetics : EJHG 169 18716613
2005 Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. Journal of medical genetics 166 15964893
2009 Assembly of the Cdc45-Mcm2-7-GINS complex in human cells requires the Ctf4/And-1, RecQL4, and Mcm10 proteins. Proceedings of the National Academy of Sciences of the United States of America 162 19805216
2006 The N-terminal noncatalytic region of Xenopus RecQ4 is required for chromatin binding of DNA polymerase alpha in the initiation of DNA replication. Molecular and cellular biology 155 16782873
1999 Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products. Genomics 136 10552928
2005 Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome. DNA repair 129 16214424
2000 Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. American journal of medical genetics 125 10678659
2010 Human RECQ1 and RECQ4 helicases play distinct roles in DNA replication initiation. Molecular and cellular biology 120 20065033
2009 MCM10 mediates RECQ4 association with MCM2-7 helicase complex during DNA replication. The EMBO journal 119 19696745
2009 Dual DNA unwinding activities of the Rothmund-Thomson syndrome protein, RECQ4. The EMBO journal 110 19177149
2005 The human Rothmund-Thomson syndrome gene product, RECQL4, localizes to distinct nuclear foci that coincide with proteins involved in the maintenance of genome stability. Journal of cell science 107 16141230
2012 RECQL4 localizes to mitochondria and preserves mitochondrial DNA integrity. Aging cell 103 22296597
2011 RECQL4, the protein mutated in Rothmund-Thomson syndrome, functions in telomere maintenance. The Journal of biological chemistry 97 22039056
2003 Growth retardation and skin abnormalities of the Recql4-deficient mouse. Human molecular genetics 92 12915449
2012 RECQL4 is essential for the transport of p53 to mitochondria in normal human cells in the absence of exogenous stress. Journal of cell science 91 22357944
2004 RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. Human molecular genetics 89 15317757
2016 Human Helicase RECQL4 Drives Cisplatin Resistance in Gastric Cancer by Activating an AKT-YB1-MDR1 Signaling Pathway. Cancer research 86 27013200
2016 RECQL4 Promotes DNA End Resection in Repair of DNA Double-Strand Breaks. Cell reports 85 27320928
2010 The involvement of human RECQL4 in DNA double-strand break repair. Aging cell 82 20222902
2009 Direct and indirect roles of RECQL4 in modulating base excision repair capacity. Human molecular genetics 76 19567405
2010 Conserved helicase domain of human RecQ4 is required for strand annealing-independent DNA unwinding. DNA repair 67 20451470
2006 The Rothmund-Thomson gene product RECQL4 localizes to the nucleolus in response to oxidative stress. Experimental cell research 65 16949575
2005 Tumor suppressor p53 represses transcription of RECQ4 helicase. Oncogene 63 15674334
2005 Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping. Cancer letters 63 16271439
2008 Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents. Human genetics 62 18504617
2010 Human RecQL4 helicase plays critical roles in prostate carcinogenesis. Cancer research 61 21045146
2006 RECQL4-deficient cells are hypersensitive to oxidative stress/damage: Insights for osteosarcoma prevalence and heterogeneity in Rothmund-Thomson syndrome. Biochemical and biophysical research communications 61 16678792
2014 The intrinsically disordered amino-terminal region of human RecQL4: multiple DNA-binding domains confer annealing, strand exchange and G4 DNA binding. Nucleic acids research 59 25336622
2012 RECQL4 in genomic instability and aging. Trends in genetics : TIG 59 22940096
2008 RecQ4 facilitates UV light-induced DNA damage repair through interaction with nucleotide excision repair factor xeroderma pigmentosum group A (XPA). The Journal of biological chemistry 59 18693251
2011 The N-terminal region of RECQL4 lacking the helicase domain is both essential and sufficient for the viability of vertebrate cells. Role of the N-terminal region of RECQL4 in cells. Biochimica et biophysica acta 56 21256165
2013 RECQL4 and p53 potentiate the activity of polymerase γ and maintain the integrity of the human mitochondrial genome. Carcinogenesis 52 24067899
2016 RECQL4 helicase has oncogenic potential in sporadic breast cancers. The Journal of pathology 51 26690729
2017 Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells. Cancer letters 50 29080750
2012 The human RecQ helicases BLM and RECQL4 cooperate to preserve genome stability. Nucleic acids research 50 22544709
2014 Digital expression profiling identifies RUNX2, CDC5L, MDM2, RECQL4, and CDK4 as potential predictive biomarkers for neo-adjuvant chemotherapy response in paediatric osteosarcoma. PloS one 49 24835790
2014 Senescence induced by RECQL4 dysfunction contributes to Rothmund-Thomson syndrome features in mice. Cell death & disease 47 24832598
2014 RECQ helicase RECQL4 participates in non-homologous end joining and interacts with the Ku complex. Carcinogenesis 47 24942867
2006 Nuclear import and retention domains in the amino terminus of RECQL4. Gene 43 17250975
2014 Hrq1, a homolog of the human RecQ4 helicase, acts catalytically and structurally to promote genome integrity. Cell reports 42 24440721
2012 RecQL4 cytoplasmic localization: implications in mitochondrial DNA oxidative damage repair. The international journal of biochemistry & cell biology 42 22824301
2009 p300-mediated acetylation of the Rothmund-Thomson-syndrome gene product RECQL4 regulates its subcellular localization. Journal of cell science 42 19299466
2014 The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis. The Journal of clinical investigation 41 24960165
2013 RecQL4 helicase amplification is involved in human breast tumorigenesis. PloS one 40 23894508
2009 DNA helicase activity in purified human RECQL4 protein. Journal of biochemistry 40 19451148
2010 Rothmund-Thomson syndrome helicase, RECQ4: on the crossroad between DNA replication and repair. DNA repair 39 20096650
2008 Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status. AJR. American journal of roentgenology 38 18647888
2017 Yeast Hrq1 shares structural and functional homology with the disease-linked human RecQ4 helicase. Nucleic acids research 37 28334827
2007 Possible involvement of RecQL4 in the repair of double-strand DNA breaks in Xenopus egg extracts. Biochimica et biophysica acta 37 17320201
2017 The structural and functional characterization of human RecQ4 reveals insights into its helicase mechanism. Nature communications 36 28653661
2015 The DNA helicase recql4 is required for normal osteoblast expansion and osteosarcoma formation. PLoS genetics 35 25859855
2007 The molecular role of the Rothmund-Thomson-, RAPADILINO- and Baller-Gerold-gene product, RECQL4: recent progress. Cellular and molecular life sciences : CMLS 34 17364146
2019 CRISPR/Cas inactivation of RECQ4 increases homeologous crossovers in an interspecific tomato hybrid. Plant biotechnology journal 33 31483929
2016 Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders. Ageing research reviews 33 27287744
2010 Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review. American journal of medical genetics. Part A 33 20503338
2009 Drosophila RecQ4 has a 3'-5' DNA helicase activity that is essential for viability. The Journal of biological chemistry 33 19759018
2015 RecQL4 is required for the association of Mcm10 and Ctf4 with replication origins in human cells. Cell cycle (Georgetown, Tex.) 32 25602958
2015 RECQL4 Regulates p53 Function In Vivo During Skeletogenesis. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 31 25556649
2012 The N-terminus of the human RecQL4 helicase is a homeodomain-like DNA interaction motif. Nucleic acids research 31 22730300
2021 Role and Regulation of the RECQL4 Family during Genomic Integrity Maintenance. Genes 30 34946868
2020 RECQL4, Negatively Regulated by miR-10a-5p, Facilitates Cell Proliferation and Invasion via MAFB in Ovarian Cancer. Frontiers in oncology 30 33014878
2002 An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome. Mutation research 30 12379465
2015 Interaction of RECQ4 and MCM10 is important for efficient DNA replication origin firing in human cells. Oncotarget 29 26588054
2008 In silico analyses of a new group of fungal and plant RecQ4-homologous proteins. Computational biology and chemistry 29 18701350
2020 Interaction between RECQL4 and OGG1 promotes repair of oxidative base lesion 8-oxoG and is regulated by SIRT1 deacetylase. Nucleic acids research 28 32432680
2011 The RecQ4 orthologue Hrq1 is critical for DNA interstrand cross-link repair and genome stability in fission yeast. Molecular and cellular biology 28 22064477
2024 RECQL4 Inhibits Radiation-Induced Tumor Immune Awakening via Suppressing the cGAS-STING Pathway in Hepatocellular Carcinoma. Advanced science (Weinheim, Baden-Wurttemberg, Germany) 27 38381090
2006 A positive involvement of RecQL4 in UV-induced S-phase arrest. DNA and cell biology 27 17184169
2012 The helicase domain and C-terminus of human RecQL4 facilitate replication elongation on DNA templates damaged by ionizing radiation. Carcinogenesis 26 22508716
2010 RecQ4: the second replicative helicase? Critical reviews in biochemistry and molecular biology 26 20429771
2003 RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient. American journal of medical genetics. Part A 26 12838562
2014 Impaired p32 regulation caused by the lymphoma-prone RECQ4 mutation drives mitochondrial dysfunction. Cell reports 25 24746816
2008 Identification of new RECQL4 mutations in Caucasian Rothmund-Thomson patients and analysis of sensitivity to a wide range of genotoxic agents. Mutation research 25 18616953
2004 Mutation analysis of the RECQL4 gene in sporadic osteosarcomas. International journal of cancer 25 15221963
2018 RecQL4-Aurora B kinase axis is essential for cellular proliferation, cell cycle progression, and mitotic integrity. Oncogenesis 24 30206236
2006 The versatile RECQL4. Genetics in medicine : official journal of the American College of Medical Genetics 24 16617241
2020 Aberrantly Expressed RECQL4 Helicase Supports Proliferation and Drug Resistance of Human Glioma Cells and Glioma Stem Cells. Cancers 22 33050631
2019 ATP-dependent helicase activity is dispensable for the physiological functions of Recql4. PLoS genetics 22 31276497
2022 UBE2O and USP7 co-regulate RECQL4 ubiquitinylation and homologous recombination-mediated DNA repair. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 21 34921745
2021 Molecular Mechanisms of the RECQ4 Pathogenic Mutations. Frontiers in molecular biosciences 21 34869606
2019 Chromosome alignment maintenance requires the MAP RECQL4, mutated in the Rothmund-Thomson syndrome. Life science alliance 21 30718377
2013 The RECQL4 protein, deficient in Rothmund-Thomson syndrome is active on telomeric D-loops containing DNA metabolism blocking lesions. DNA repair 21 23683351
2014 Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes. Clinical genetics 20 24635570
2019 RecQL4 tethering on the pre-replicative complex induces unscheduled origin activation and replication stress in human cells. The Journal of biological chemistry 19 31519754
2019 Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma. Cold Spring Harbor molecular case studies 19 31604778
2016 Structural and biochemical characterization of an RNA/DNA binding motif in the N-terminal domain of RecQ4 helicases. Scientific reports 19 26888063
2012 RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity. Biochimica et biophysica acta 19 22885111
2016 Mitochondrial functions of RECQL4 are required for the prevention of aerobic glycolysis-dependent cell invasion. Journal of cell science 17 26906415
2022 DNA-PKcs-dependent phosphorylation of RECQL4 promotes NHEJ by stabilizing the NHEJ machinery at DNA double-strand breaks. Nucleic acids research 16 35580045
2021 Human RecQL4 as a Novel Molecular Target for Cancer Therapy. Cytogenetic and genome research 16 34474412
2019 Human RECQL4 represses the RAD52-mediated single-strand annealing pathway after ionizing radiation or cisplatin treatment. International journal of cancer 16 31495919
2021 RECQL4 regulates DNA damage response and redox homeostasis in esophageal cancer. Cancer biology & medicine 15 33628589
2021 RNF8 ubiquitinates RecQL4 and promotes its dissociation from DNA double strand breaks. Oncogenesis 15 33674555
2007 Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes. European journal of pediatrics 15 17372760
2023 Recognition and coacervation of G-quadruplexes by a multifunctional disordered region in RECQ4 helicase. Nature communications 14 37875529
2016 The Human RecQ4 Helicase Contains a Functional RecQ C-terminal Region (RQC) That Is Essential for Activity. The Journal of biological chemistry 13 27998982
2015 RECQ4 selectively recognizes Holliday junctions. DNA repair 13 25769792

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