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Gene Review

RECQL  -  RecQ helicase-like

Homo sapiens

Synonyms: ATP-dependent DNA helicase Q1, DNA helicase, RecQ-like type 1, DNA-dependent ATPase Q1, RECQ1, RECQL1, ...
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Disease relevance of RECQL

  • The RECQL4 helicase gene is a member of the RECQL gene family, mutated in some Rothmund-Thomson syndrome (RTS) patients [1].
  • Cloning and characterization of RECQL, a potential human homologue of the Escherichia coli DNA helicase RecQ [2].
  • The addition of these genes increases the total to five helicase genes in the human RecQ family, which includes helicases involved in Bloom and Werner syndromes, the genetic diseases manifesting the distinctive but overlapping clinical phenotypes of immunodeficiency, premature aging, and an enhanced risk of cancer [3].
  • Werner's syndrome (WS) is a rare autosomal recessive disorder that arises as a consequence of mutations in a gene coding for a protein that is a member of RecQ family of DNA helicases, WRN [4].
  • Characterization and mutational analysis of the RecQ core of the bloom syndrome protein [5].

High impact information on RECQL

  • To better understand the cellular role of the RecQ-like DNA helicases, sgs1 mutations were analyzed for their effect on genome rearrangements [6].
  • We recently cloned two new human helicase genes, RECQL4 at 8q24.3 and RECQL5 at 17q25, which encode members of the RecQ helicase family [7].
  • In this novel mapping method, cells were used from persons with BS that had undergone intragenic recombination within BLM. cDNA analysis of the candidate gene identified a 4437 bp cDNA that encodes a 1417 amino acid peptide with homology to the RecQ helicases, a subfamily of DExH box-containing DNA and RNA helicases [8].
  • In animals, genes that are homologous to RecQ protein, such as the human genes for Bloom's syndrome and Werner's syndrome, may also function in PTGS [9].
  • Posttranscriptional gene silencing in Neurospora by a RecQ DNA helicase [9].

Chemical compound and disease context of RECQL

  • To define the physical basis of RecQ enzyme function, we have determined a 1.8 A resolution crystal structure of the catalytic core of Escherichia coli RecQ in its unbound form and a 2.5 A resolution structure of the core bound to the ATP analog ATPgammaS [10].
  • Several RecQ family of helicases contain a putative zinc finger motif of the C4 type at the C terminus that has been identified in the crystalline structure of RecQ helicase from Escherichia coli [11].
  • One example is the RecQ helicase family, named after the RecQ protein of Escherichia coli, which was identified during a search for mutants sensitive to thymine starvation [12].

Biological context of RECQL


Anatomical context of RECQL

  • These antibodies demonstrated that RECQL is located predominantly in the nucleus of human fibroblasts [2].
  • A potential human DNA helicase, RECQL, was partially purified from HeLa cells, and a cDNA encoding this protein was subsequently cloned from a HeLa library [2].
  • Expression of the RECQL cDNA in reticulocyte lysates and in transiently transfected cells confirms the M(r) 72,000 of the protein; this protein reacted with antibodies raised against synthetic peptides comprising both the predicted amino- and carboxyl-terminal sequences [2].
  • We also roughly determined the number of copies per cell for the five RecQ helicase in B cells [15].
  • In addition, levels of the different RecQ helicases are modulated in different ways during the cell cycle of actively proliferating fibroblasts and umbilical endothelial cells [15].

Associations of RECQL with chemical compounds

  • RecQ helicase BLM-deficient cells are characteristically hypersensitive to 4-nitroquinoline-1-oxide (4NQO) [16].
  • Some were novel candidates, while others are involved in well-characterized mechanisms that could be relevant to cisplatin resistance, such as RECQL for DNA repair and MAP2K6 in the MAP pathway; all the genes were further validated by Real-time PCR [17].
  • In budding and fission yeasts, loss of RecQ helicase function confers sensitivity to inhibitors of DNA replication, such as hydroxyurea (HU), by failure to execute normal cell cycle progression following recovery from such an S-phase arrest [18].
  • In addition, mutation of Rad60 Ser(32) and Ser(34) to alanine is lethal in cells deleted for the RecQ DNA helicase Rqh1 [19].
  • Steady-state fluorescence anisotropy measurements of fluorescein-labeled oligonucleotides revealed that RecQ helicase bound to DNA with an apparent binding stoichiometry of 1 protein monomer/10 nucleotides [20].

Physical interactions of RECQL

  • The mapping analysis of protein interaction sites in WRN for most of its binding partners have revealed a common site of protein-protein interaction in the RecQ conserved (RQC) region of WRN [21].
  • 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 [22].

Other interactions of RECQL

  • Functional relation among RecQ family helicases RecQL1, RecQL5, and BLM in cell growth and sister chromatid exchange formation [23].
  • Currently, WRN is the only member of the widely distributed RecQ DNA helicase family with documented exonuclease activity [24].
  • A subset of DNA helicases, the RecQ family, has been found to be associated with the p53-mediated apoptotic pathway and is involved in maintaining genomic integrity [25].
  • Catenated DNA is the predominant product under conditions of molecular crowding; however, we also discovered that RecQ helicase and single-stranded DNA-binding protein greatly stimulated the intramolecular strand passage ("supercoiling") activity of Topo III, as revealed by changes in the linking number of uncatenated DNA [26].
  • Substrate-specific DNA binding activity was detected in three domains, one N-terminal and two different C-terminal WRN fragments (RecQ conserved domain and helicase RNase D conserved domain-containing domains) [27].

Analytical, diagnostic and therapeutic context of RECQL

  • Molecular cloning of a splicing variant of human RECQL helicase [28].
  • MATERIALS AND METHODS: The sequence alignment was performed for RecQ DNA helicases and Rep and PcrA helicases [29].
  • Titration data suggest that an intermediate of the RecQ helicase unwinding process, perhaps a RecQ helicase-DNA fork, is the target for Topo III action [26].
  • Here we directly assessed the structure of the catenated DNA species formed by RecQ helicase and Topo III using atomic force microscopy [26].
  • When we examined colocalization and co-immunoprecipitation of p53pSer15 and the RecQ helicase BLM with recombination surveillance and proapoptotic functions, we observed colocalization within a fraction of approximately 70% of the BLM foci and stable physical interactions until 6 h after replication arrest [30].


  1. 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]
  2. Cloning and characterization of RECQL, a potential human homologue of the Escherichia coli DNA helicase RecQ. Puranam, K.L., Blackshear, P.J. J. Biol. Chem. (1994) [Pubmed]
  3. Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes. Kitao, S., Ohsugi, I., Ichikawa, K., Goto, M., Furuichi, Y., Shimamoto, A. Genomics (1998) [Pubmed]
  4. Werner's syndrome protein is required for correct recovery after replication arrest and DNA damage induced in S-phase of cell cycle. Pichierri, P., Franchitto, A., Mosesso, P., Palitti, F. Mol. Biol. Cell (2001) [Pubmed]
  5. Characterization and mutational analysis of the RecQ core of the bloom syndrome protein. Janscak, P., Garcia, P.L., Hamburger, F., Makuta, Y., Shiraishi, K., Imai, Y., Ikeda, H., Bickle, T.A. J. Mol. Biol. (2003) [Pubmed]
  6. SGS1, the Saccharomyces cerevisiae homologue of BLM and WRN, suppresses genome instability and homeologous recombination. Myung, K., Datta, A., Chen, C., Kolodner, R.D. Nat. Genet. (2001) [Pubmed]
  7. 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]
  8. The Bloom's syndrome gene product is homologous to RecQ helicases. Ellis, N.A., Groden, J., Ye, T.Z., Straughen, J., Lennon, D.J., Ciocci, S., Proytcheva, M., German, J. Cell (1995) [Pubmed]
  9. Posttranscriptional gene silencing in Neurospora by a RecQ DNA helicase. Cogoni, C., Macino, G. Science (1999) [Pubmed]
  10. High-resolution structure of the E.coli RecQ helicase catalytic core. Bernstein, D.A., Zittel, M.C., Keck, J.L. EMBO J. (2003) [Pubmed]
  11. The zinc finger motif of Escherichia coli RecQ is implicated in both DNA binding and protein folding. Liu, J.L., Rigolet, P., Dou, S.X., Wang, P.Y., Xi, X.G. J. Biol. Chem. (2004) [Pubmed]
  12. RecQ helicases and genome stability: lessons from model organisms and human disease. Bjergbaek, L., Cobb, J.A., Gasser, S.M. Swiss medical weekly : official journal of the Swiss Society of Infectious Diseases, the Swiss Society of Internal Medicine, the Swiss Society of Pneumology. (2002) [Pubmed]
  13. Complex SNP-based haplotypes in three human helicases: implications for cancer association studies. Trikka, D., Fang, Z., Renwick, A., Jones, S.H., Chakraborty, R., Kimmel, M., Nelson, D.L. Genome Res. (2002) [Pubmed]
  14. Chromosomal localization of the gene encoding the human DNA helicase RECQL and its mouse homologue. Puranam, K.L., Kennington, E., Sait, S.N., Shows, T.B., Rochelle, J.M., Seldin, M.F., Blackshear, P.J. Genomics (1995) [Pubmed]
  15. Differential regulation of human RecQ family helicases in cell transformation and cell cycle. Kawabe, T., Tsuyama, N., Kitao, S., Nishikawa, K., Shimamoto, A., Shiratori, M., Matsumoto, T., Anno, K., Sato, T., Mitsui, Y., Seki, M., Enomoto, T., Goto, M., Ellis, N.A., Ide, T., Furuichi, Y., Sugimoto, M. Oncogene (2000) [Pubmed]
  16. 4-nitroquinoline-1-oxide induces the formation of cellular topoisomerase I-DNA cleavage complexes. Miao, Z.H., Rao, V.A., Agama, K., Antony, S., Kohn, K.W., Pommier, Y. Cancer Res. (2006) [Pubmed]
  17. Identification of genes associated with cisplatin resistance in human oral squamous cell carcinoma cell line. Zhang, P., Zhang, Z., Zhou, X., Qiu, W., Chen, F., Chen, W. BMC Cancer (2006) [Pubmed]
  18. Phosphorylation of the Bloom's syndrome helicase and its role in recovery from S-phase arrest. Davies, S.L., North, P.S., Dart, A., Lakin, N.D., Hickson, I.D. Mol. Cell. Biol. (2004) [Pubmed]
  19. SUMO-binding Motifs Mediate the Rad60-dependent Response to Replicative Stress and Self-association. Raffa, G.D., Wohlschlegel, J., Yates, J.R., Boddy, M.N. J. Biol. Chem. (2006) [Pubmed]
  20. The DNA binding properties of the Escherichia coli RecQ helicase. Dou, S.X., Wang, P.Y., Xu, H.Q., Xi, X.G. J. Biol. Chem. (2004) [Pubmed]
  21. Pathways and functions of the Werner syndrome protein. Lee, J.W., Harrigan, J., Opresko, P.L., Bohr, V.A. Mech. Ageing Dev. (2005) [Pubmed]
  22. Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping. Larizza, L., Magnani, I., Roversi, G. Cancer Lett. (2006) [Pubmed]
  23. Functional relation among RecQ family helicases RecQL1, RecQL5, and BLM in cell growth and sister chromatid exchange formation. Wang, W., Seki, M., Narita, Y., Nakagawa, T., Yoshimura, A., Otsuki, M., Kawabe, Y., Tada, S., Yagi, H., Ishii, Y., Enomoto, T. Mol. Cell. Biol. (2003) [Pubmed]
  24. Werner syndrome exonuclease catalyzes structure-dependent degradation of DNA. Shen, J.C., Loeb, L.A. Nucleic Acids Res. (2000) [Pubmed]
  25. Redundancy of DNA helicases in p53-mediated apoptosis. Spillare, E.A., Wang, X.W., von Kobbe, C., Bohr, V.A., Hickson, I.D., Harris, C.C. Oncogene (2006) [Pubmed]
  26. RecQ helicase stimulates both DNA catenation and changes in DNA topology by topoisomerase III. Harmon, F.G., Brockman, J.P., Kowalczykowski, S.C. J. Biol. Chem. (2003) [Pubmed]
  27. Werner syndrome protein contains three structure-specific DNA binding domains. von Kobbe, C., Thomä, N.H., Czyzewski, B.K., Pavletich, N.P., Bohr, V.A. J. Biol. Chem. (2003) [Pubmed]
  28. Molecular cloning of a splicing variant of human RECQL helicase. Zhang, A.H., Xi, X. Biochem. Biophys. Res. Commun. (2002) [Pubmed]
  29. Structural basis of Bloom syndrome (BS) causing mutations in the BLM helicase domain. Rong, S.B., Väliaho, J., Vihinen, M. Mol. Med. (2000) [Pubmed]
  30. Differences in the association of p53 phosphorylated on serine 15 and key enzymes of homologous recombination. Restle, A., Janz, C., Wiesmüller, L. Oncogene (2005) [Pubmed]
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