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Gene Review

RECQL4  -  RecQ protein-like 4

Homo sapiens

Synonyms: ATP-dependent DNA helicase Q4, DNA helicase, RecQ-like type 4, RECQ4, RTS, RecQ4
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Disease relevance of RECQL4


High impact information on RECQL4

  • Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome [6].
  • The fact that the mutated alleles were inherited from the parents in one affected family and were not found in ethnically matched controls suggests that mutation of RECQL4 at human chromosome 8q24.3 is responsible for at least some cases of RTS [1].
  • Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder caused by deleterious mutations in the RECQL4 gene on chromosome 8 [7].
  • The RECQL4 gene structure is unusual because it contains many small introns <100 bp [7].
  • It is caused by mutations in the RECQL4 gene and thus represents one of the three cancer-prone genetic diseases that are caused by mutations in a RecQ helicase-encoding gene [8].

Biological context of RECQL4

  • The RECQL4 gene was localized to mouse chromosome 15D3 distal-E1 and rat chromosome 7q34 proximal [9].
  • The RECQL4 gene is in a small genome of 6.5 kb and consists of 21 exons [3].
  • The mouse RECQL4 consists of 3651 base pairs coding 1216 amino acid residues and shares 63.4% of identical and 85.8% of homologous amino acid sequences with human RECQL4 [9].
  • In this study, we show the genomic organization of the RECQL4 gene, including the exon-intron boundaries, the transcription initiation sites, and the potential promoter sequences, which facilitates further mutation analysis of the RECQL4 gene and studies to elucidate the pathogenesis behind RTS [3].
  • These data suggest that p53-mediated repression of RECQ4 transcription during DNA damage results from the modulation of the promoter occupancy of transcription activators and repressors [10].

Anatomical context of RECQL4


Associations of RECQL4 with chemical compounds


Physical interactions of RECQL4

  • The simultaneous formation of a camptothecin-dependent p53-SP1 complex indicated its occurrence outside of the RECQ4 promoter [10].
  • Further work is needed to define the specific and shared functions of RECQL4 in relation to other RecQ helicases and to connect RECQL4 diseases to other genomic instability syndromes with birth defects and cancer predisposition [15].

Regulatory relationships of RECQL4


Other interactions of RECQL4

  • The function of RECQL4 remains unknown, but based on the domain homology it possesses ATP-dependent DNA helicase activity such as BLM and WRN [2].
  • The RECQL4 helicase gene is a member of the RECQL gene family, mutated in some Rothmund-Thomson syndrome (RTS) patients [2].
  • By comparative Northern blot analysis, we show that the RECQL4 transcripts are severely down-regulated in the cells from RTS patients, similar to our previous observation for WRN transcripts in cells from Werner patients [3].
  • The C-terminal portion of RECQL4 was found to be an in vitro substrate for PARP-1 [4].
  • Furthermore, we demonstrate that RECQL4 foci coincide with foci formed by human Rad51 and regions of single-stranded DNA after induction of DNA double-strand breaks [17].

Analytical, diagnostic and therapeutic context of RECQL4

  • Using a retrospective cohort study, we evaluated survival and mortality risk factors in our dialysis population at the Renal Unit, RTS Cauca--Nephrologic San Jose, Popaydn, Cauca, Colombia [18].


  1. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Kitao, S., Shimamoto, A., Goto, M., Miller, R.W., Smithson, W.A., Lindor, N.M., Furuichi, Y. Nat. Genet. (1999) [Pubmed]
  2. Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. Siitonen, H.A., Kopra, O., Kääriäinen, H., Haravuori, H., Winter, R.M., Säämänen, A.M., Peltonen, L., Kestilä, M. Hum. Mol. Genet. (2003) [Pubmed]
  3. Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products. Kitao, S., Lindor, N.M., Shiratori, M., Furuichi, Y., Shimamoto, A. Genomics (1999) [Pubmed]
  4. The Rothmund-Thomson gene product RECQL4 localizes to the nucleolus in response to oxidative stress. Woo, L.L., Futami, K., Shimamoto, A., Furuichi, Y., Frank, K.M. Exp. Cell Res. (2006) [Pubmed]
  5. RecQ4 facilitates UV light-induced DNA damage repair through interaction with nucleotide excision repair factor xeroderma pigmentosum group A (XPA). Fan, W., Luo, J. J. Biol. Chem. (2008) [Pubmed]
  6. Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome. Sangrithi, M.N., Bernal, J.A., Madine, M., Philpott, A., Lee, J., Dunphy, W.G., Venkitaraman, A.R. Cell (2005) [Pubmed]
  7. Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome. Wang, L.L., Worley, K., Gannavarapu, A., Chintagumpala, M.M., Levy, M.L., Plon, S.E. Am. J. Hum. Genet. (2002) [Pubmed]
  8. Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome. Mann, M.B., Hodges, C.A., Barnes, E., Vogel, H., Hassold, T.J., Luo, G. Hum. Mol. Genet. (2005) [Pubmed]
  9. Cloning, genomic structure and chromosomal localization of the gene encoding mouse DNA helicase RecQ helicase protein-like 4. Ohhata, T., Araki, R., Fukumura, R., Kuroiwa, A., Matsuda, Y., Tatsumi, K., Abe, M. Gene (2000) [Pubmed]
  10. Tumor suppressor p53 represses transcription of RECQ4 helicase. Sengupta, S., Shimamoto, A., Koshiji, M., Pedeux, R., Rusin, M., Spillare, E.A., Shen, J.C., Huang, L.E., Lindor, N.M., Furuichi, Y., Harris, C.C. Oncogene (2005) [Pubmed]
  11. RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. Yin, J., Kwon, Y.T., Varshavsky, A., Wang, W. Hum. Mol. Genet. (2004) [Pubmed]
  12. Mutation analysis of the RECQL4 gene in sporadic osteosarcomas. Nishijo, K., Nakayama, T., Aoyama, T., Okamoto, T., Ishibe, T., Yasura, K., Shima, Y., Shibata, K.R., Tsuboyama, T., Nakamura, T., Toguchida, J. Int. J. Cancer (2004) [Pubmed]
  13. Successful umbilical cord blood stem cell transplantation in a patient with Rothmund-Thomson syndrome and combined immunodeficiency. Broom, M.A., Wang, L.L., Otta, S.K., Knutsen, A.P., Siegfried, E., Batanian, J.R., Kelly, M.E., Shah, M. Clin. Genet. (2006) [Pubmed]
  14. Identification of two novel RECQL4exonic SNPs and genomic characterization of the IVS12 minisatellite. Roversi, G., Beghini, A., Zambruno, G., Paradisi, M., Larizza, L. J. Hum. Genet. (2003) [Pubmed]
  15. Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping. Larizza, L., Magnani, I., Roversi, G. Cancer Lett. (2006) [Pubmed]
  16. p300-mediated acetylation of the Rothmund-Thomson-syndrome gene product RECQL4 regulates its subcellular localization. Dietschy, T., Shevelev, I., Pena-Diaz, J., Hühn, D., Kuenzle, S., Mak, R., Miah, M.F., Hess, D., Fey, M., Hottiger, M.O., Janscak, P., Stagljar, I. J. Cell. Sci. (2009) [Pubmed]
  17. The human Rothmund-Thomson syndrome gene product, RECQL4, localizes to distinct nuclear foci that coincide with proteins involved in the maintenance of genome stability. Petkovic, M., Dietschy, T., Freire, R., Jiao, R., Stagljar, I. J. Cell. Sci. (2005) [Pubmed]
  18. Survival on chronic dialysis: 10 years' experience of a single Colombian center. Enríquez, J., Bastidas, M., Mosquera, M., Ceballos, O., Bastidas, B., Argote, E., Salazar, J., Delgado, M. Advances in peritoneal dialysis. Conference on Peritoneal Dialysis. (2005) [Pubmed]
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