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Available structures
PDB Ortholog search: PDBe RCSB
Aliases RECQL4, RECQ4, RecQ like helicase 4
External IDs MGI: 1931028 HomoloGene: 3144 GeneCards: RECQL4
RNA expression pattern
PBB GE RECQL4 213520 at fs.png
More reference expression data
Species Human Mouse
RefSeq (mRNA)



RefSeq (protein)



Location (UCSC) Chr 8: 144.51 – 144.52 Mb Chr 15: 76.7 – 76.71 Mb
PubMed search [1] [2]
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ATP-dependent DNA helicase Q4 is an enzyme that in humans is encoded by the RECQL4 gene.[3][4][5]

Mutations in RECQL4 are associated with the autosomal recessive disease Rothmund-Thomson Syndrome, a disorder that has features of premature aging.[6][7] In addition to the Rothmund-Thomson syndrome, RECQL4 mutations are also associated with RAPADILINO and Baller-Gerold syndromes.[8] 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).[9] RECQL4 gets it 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.[10]

DNA repair[edit]

Double-strand breaks in DNA are potentially lethal to a cell and need to be repaired. Repair of double-strand breaks by homologous recombination (HR) is an important cellular mechanism for avoiding this lethality. RECQL4 has a crucial role in the first step of HR, referred to as end resection.[11] When RECQL4 is deficient, end resection, and thus HR, is reduced. Evidence suggests that other forms of DNA repair including non-homologous end joining, nucleotide excision repair and base excision repair also depend on RECQL4 function.[7] In the Rothmund-Thomson syndrome, the association of deficient RECQL4-mediated DNA repair and premature aging is consistent with the DNA damage theory of aging.


  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ "Entrez Gene: RECQL4 RecQ protein-like 4". 
  6. ^ 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: e1226. doi:10.1038/cddis.2014.168. PMC 4047874Freely accessible. PMID 24832598. 
  7. ^ a b 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. 
  8. ^ 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 4216052Freely accessible. PMID 24942867. 
  9. ^ 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. 
  10. ^ 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. 
  11. ^ Lu H, Shamanna RA, Keijzers G, Anand R, Rasmussen LJ, Cejka P, Croteau DL, Bohr VA (2016). "RECQL4 Promotes DNA End Resection in Repair of DNA Double-Strand Breaks". Cell Rep. 16 (1): 161–73. doi:10.1016/j.celrep.2016.05.079. PMID 27320928. 

External links[edit]

Further reading[edit]