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RecQ4 plays an important role in the conversion of pre-initiation complexes into active replisomes requiring the unwinding of origin DNA in vertebrates.
RecQL4 is loaded adjacent to Ku heterodimer-binding sites on damaged chromatin, and functions in the repair of double-stranded DNA breaks.
RecQ4 performs an essential role in the assembly of replication machinery through interaction with Cut5 in vertebrates.
The crystal structure of human RecQ4, encompassing the conserved ATPase core and a novel C-terminal domain that lacks resemblance to the RQC domain observed in other RecQ helicases.
Data suggest that RECQL4 DNA helicase (RECQL4) modulates the pathway choice of DNA end-joining repair and homologous recombination DNA repair in a cell cycle-dependent manner.
analysis of RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome
RECQL4 is an important participant in homologous recombination (HR)-dependent DNA double-strand break repair.
These results solidify Hrq1 as a true RecQ4 homolog and position it as the premier model to determine how RecQ4 mutations lead to genomic instability and disease.
High RECQL4 expression is associated with Cisplatin Resistance in Gastric Cancer.
Mutations in RECQL4 are responsible for the majority of cases of Rothmund-Thomson syndrome . RECQL4 is important not only in Cancer development but also in the aging process.
High RecQL4 expression is associated with osteosarcoma.
this study demonstrates for the first time that, owing to its mitochondrial functions, the accessory mitochondrial replication helicase RECQL4 prevents the invasive step in the neoplastic transformation process.
These results reveal novel possible roles of RecQ4 in DNA replication and genome stability.
RECQL4 is tumour promoting in established breast cancers
RecQL4-dependent association of Mcm10 and Ctf4 with replication origins appears to be the first important step controlled by S phase promoting kinases and checkpoint pathways for the initiation of DNA replication in human cells.
No RECQL4 mutations were found in the BGS group without poikiloderma, confirming that RECQL4 sequencing was not indicated in this phenotype.
This finding provided the key to unravel the correlation between the RECQL4 genotype and the mild phenotype of the two siblings of Rothmund-Thomson Syndrome.
The N-terminus of human RecQL4 acts as a complex moderator of DNA transactions that are mediated by multiple DNA-binding sites.
RECQL4 stimulates higher order DNA binding of Ku70/Ku80 to a blunt end DNA substrate. Taken together, these results implicate that RECQL4 participates in the NHEJ pathway of DSB repair via a functional interaction with the Ku70/Ku80 complex.
The highly cancer-prone RECQ4 ID mutant failed to interact with p32, leading to increases in mtDNA copy number and MT dysfunction.
Dysfunction of RECQL4 increases DNA damage and triggers premature senescence in both human and mouse cells, which may contribute to symptoms in Rothmund-Thompson syndrome patients.
Elevated expression of RECQL4 accompanies progression of the Rothmund-Thomson Syndrome into osteosarcoma in humans and mice.
Molecular analyses show the presence of a novel truncating mutation and of a known missense mutation, p.R1021W, located outside of the helicase domain, which has been found in several patients either in a compound heterozygous state or alone.
RECQL4 is essential for normal bone development. Animals with no Recql4 in bone cells did not develop osteosarcoma.
findings show that RECQL4 is critical for skeletal development by modulating p53 activity in vivo.
data indicate that RECQL4 participates in DNA replication rather than genome stability and identify RECQL4 as a regulator of hematopoiesis with a nonredundant role compared with other RecQ helicases
dysfunction of RECQL4 increases DNA damage and triggers premature senescence in both human and mouse cells, which may contribute to Rothmund-Thomson syndrome features in mice.
Recql4-deficient mice show growth retardation and skin abnormalities.
Recql4 functions as a regulatory protein during osteoprogenitor proliferation, a critical cellular event during skeleton development.
we define a small core bidirectional promoter that drives expression of the mouse genes Recql4, on one strand, and Lrrc14; a novel member of the LRR gene family, on the opposite strand
The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes.
ATP-dependent DNA helicase Q4
, RecQ protein-like 4
, ATP-dependent DNA helicase Q4-like
, DNA helicase, RecQ-like type 4
, DNA helicase, RecQ-like, type 4
, RecQ helicase protein-like 4