double-strand break repair via homologous recombination
DNA recombination
DNA replication
DNA duplex unwinding
telomeric D-loop disassembly
telomere maintenance
positive regulation of cell population proliferation
positive regulation of G2/M transition of mitotic cell cycle
positive regulation of DNA replication
DNA unwinding involved in DNA replication
Sources:Amigo / QuickGO
Orthologs
Species
Human
Mouse
Entrez
9401
79456
Ensembl
ENSG00000160957
ENSMUSG00000033762
UniProt
O94761
Q75NR7
RefSeq (mRNA)
NM_004260
NM_058214
RefSeq (protein)
NP_004251
NP_478121
Location (UCSC)
Chr 8: 144.51 – 144.52 Mb
Chr 15: 76.59 – 76.59 Mb
PubMed search
[3]
[4]
Wikidata
View/Edit Human
View/Edit Mouse
ATP-dependent DNA helicase Q4 is an enzyme that in humans is encoded by the RECQL4 gene.[5][6][7]
Mutations in RECQL4 are associated with the autosomal recessive disease Rothmund–Thomson syndrome, a disorder that has features of premature aging.[8][9] In addition to the Rothmund–Thomson syndrome, RECQL4 mutations are also associated with RAPADILINO and Baller–Gerold syndromes.[10] There are two types of Rothmund Thomson syndrome and it is Type 2 that occurs in patients carrying deleterious mutations in both copies of the RECQL4 gene. This condition is associated with a high risk of developing osteosarcoma (malignant tumor of the bone).[11]RECQL4 gets its name from being homologous (sharing sequence) with other members of the RecQ helicase family. Two other genetic diseases are due to mutations in other RECQ helicases. Bloom syndrome is associated with mutations in the BLM gene and Werner syndrome is associated with mutations in the WRN gene.[12]
^ abcGRCh38: Ensembl release 89: ENSG00000160957 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000033762 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Kitao S, Ohsugi I, Ichikawa K, Goto M, Furuichi Y, Shimamoto A (Feb 1999). "Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes". Genomics. 54 (3): 443–52. doi:10.1006/geno.1998.5595. PMID 9878247.
^Sangrithi MN, Bernal JA, Madine M, Philpott A, Lee J, Dunphy WG, Venkitaraman AR (Jun 2005). "Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome". Cell. 121 (6): 887–98. doi:10.1016/j.cell.2005.05.015. PMID 15960976. S2CID 15064074.
^"Entrez Gene: RECQL4 RecQ protein-like 4".
^Lu H, Fang EF, Sykora P, Kulikowicz T, Zhang Y, Becker KG, Croteau DL, Bohr VA (2014). "Senescence induced by RECQL4 dysfunction contributes to Rothmund–Thomson syndrome features in mice". Cell Death Dis. 5 (5): e1226. doi:10.1038/cddis.2014.168. PMC 4047874. PMID 24832598.
^Lu L, Jin W, Wang LL (2017). "Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders". Ageing Res. Rev. 33: 30–35. doi:10.1016/j.arr.2016.06.002. PMID 27287744. S2CID 28321025.
^Shamanna RA, Singh DK, Lu H, Mirey G, Keijzers G, Salles B, Croteau DL, Bohr VA (2014). "RECQ helicase RECQL4 participates in non-homologous end joining and interacts with the Ku complex". Carcinogenesis. 35 (11): 2415–24. doi:10.1093/carcin/bgu137. PMC 4216052. PMID 24942867.
^Wang LL, Gannavarapu A, Kozinetz CA, et al. (2003). "Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome". J. Natl. Cancer Inst. 95 (9): 669–74. doi:10.1093/jnci/95.9.669. PMID 12734318.
^Kitao S, Lindor NM, Shiratori M, et al. (2000). "Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products". Genomics. 61 (3): 268–76. doi:10.1006/geno.1999.5959. PMID 10552928.
helicase Q4 is an enzyme that in humans is encoded by the RECQL4 gene. Mutations in RECQL4 are associated with the autosomal recessive disease Rothmund–Thomson...
WRN gene in Werner syndrome (WS), BLM gene in Bloom syndrome (BS), and RECQL4 in Rothmund–Thomson syndrome. These syndromes are characterized by premature...
functions. N-terminal homeodomain-like domain of metazoan RecQ protein-like 4 (RecQL4_SLD2_NTD) - involved in various cellular process, including DNA replication...
Mutations in genes encoding other members of this family, namely WRN and RECQL4, are associated with the clinical entities Werner syndrome and Rothmund–Thomson...
decreased ability to proliferate. Mutations in RecQ family helicases BLM, RECQL4, and WRN, which play a role in regulating homologous recombination, have...
develops in early adulthood. RAPADILINO syndrome is caused by RECQL4 gene mutations. The RECQL4 gene gives instructions to produce a member of a protein family...
Rothmund–Thomson syndrome, a genetic disorder associated with the DNA helicase RECQL4 on chromosome 8q24.3. The syndrome is "characterized by skin atrophy, telangiectasia...
encoding protein Purine-rich element binding protein G PVT1: Pvt1 oncogene RECQL4: RecQ protein-like 4 RNF5P1: ring finger protein 5 pseudogene 1 RRS1: ribosome...
Jin W, Wang LL (2017). "Aging in Rothmund–Thomson syndrome and related RECQL4 genetic disorders". Ageing Res. Rev. 33: 30–35. doi:10.1016/j.arr.2016.06...
genes involved in the regulation of homologous recombination: BLM, WRN and RECQL4, respectively. In the cells of Bloom's syndrome patients, who lack a working...
encoding RecQ in humans (RECQ1-5), and defects in RECQL2/WRN, RECQL3/BLM and RECQL4 lead to Werner syndrome (WS), Bloom syndrome (BS), and Rothmund–Thomson...
There is documentation of a case of pili annulati linked to a mutation in RECQL4, which causes Rothmund-Thomson syndrome. A distinctive look with alternating...
(WRN) DNA helicase Werner syndrome RecQL3 (BLM) DNA helicase Bloom syndrome RecQL4 DNA helicase Rothmund–Thomson syndrome RET MEN2A, MEN2B SAMD9 Familial tumoral...
1038/ng1285. PMID 14702039. Yin J, Kwon YT, Varshavsky A, Wang W (2005). "RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with...
PMC 514446. PMID 15302935. Yin J, Kwon YT, Varshavsky A, Wang W (2005). "RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with...
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