Molecular genetics of RecQ helicase disorders - PubMed (original) (raw)
Review
Molecular genetics of RecQ helicase disorders
K Hanada et al. Cell Mol Life Sci. 2007 Sep.
Abstract
The RecQ helicases belong to the Superfamily II group of DNA helicases, and are defined by amino acid motifs that show sequence similarity to the catalytic domain of Escherichia coli RecQ. RecQ helicases have crucial roles in the maintenance of genome stability. In humans, there are five RecQ helicases and deficiencies in three of them cause genetic disorders characterised by cancer predisposition, premature aging and/or developmental abnormalities. RecQ helicase-deficient cells exhibit aberrant genetic recombination and/or DNA replication, which result in chromosomal instability and a decreased potential for proliferation. Here, we review the current knowledge of the molecular genetics of RecQ helicases, focusing on the human RecQ helicase disorders and mouse models of these conditions.
Similar articles
- Premature aging and predisposition to cancers caused by mutations in RecQ family helicases.
Furuichi Y. Furuichi Y. Ann N Y Acad Sci. 2001 Apr;928:121-31. doi: 10.1111/j.1749-6632.2001.tb05642.x. Ann N Y Acad Sci. 2001. PMID: 11795503 Review. - Human diseases deficient in RecQ helicases.
Harrigan JA, Bohr VA. Harrigan JA, et al. Biochimie. 2003 Nov;85(11):1185-93. doi: 10.1016/j.biochi.2003.10.006. Biochimie. 2003. PMID: 14726023 - DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders.
Mohaghegh P, Hickson ID. Mohaghegh P, et al. Hum Mol Genet. 2001 Apr;10(7):741-6. doi: 10.1093/hmg/10.7.741. Hum Mol Genet. 2001. PMID: 11257107 Review. - RecQ helicases: caretakers of the genome.
Hickson ID. Hickson ID. Nat Rev Cancer. 2003 Mar;3(3):169-78. doi: 10.1038/nrc1012. Nat Rev Cancer. 2003. PMID: 12612652 Review. - Roles of the Bloom's syndrome helicase in the maintenance of genome stability.
Cheok CF, Bachrati CZ, Chan KL, Ralf C, Wu L, Hickson ID. Cheok CF, et al. Biochem Soc Trans. 2005 Dec;33(Pt 6):1456-9. doi: 10.1042/BST0331456. Biochem Soc Trans. 2005. PMID: 16246145 Review.
Cited by
- Mutator Phenotype and DNA Double-Strand Break Repair in BLM Helicase-Deficient Human Cells.
Suzuki T, Yasui M, Honma M. Suzuki T, et al. Mol Cell Biol. 2016 Nov 14;36(23):2877-2889. doi: 10.1128/MCB.00443-16. Print 2016 Dec 1. Mol Cell Biol. 2016. PMID: 27601585 Free PMC article. - Human premature aging, DNA repair and RecQ helicases.
Brosh RM Jr, Bohr VA. Brosh RM Jr, et al. Nucleic Acids Res. 2007;35(22):7527-44. doi: 10.1093/nar/gkm1008. Epub 2007 Nov 15. Nucleic Acids Res. 2007. PMID: 18006573 Free PMC article. Review. - Roles of RECQ helicases in recombination based DNA repair, genomic stability and aging.
Singh DK, Ahn B, Bohr VA. Singh DK, et al. Biogerontology. 2009 Jun;10(3):235-52. doi: 10.1007/s10522-008-9205-z. Epub 2008 Dec 15. Biogerontology. 2009. PMID: 19083132 Free PMC article. Review. - Essential developmental, genomic stability, and tumour suppressor functions of the mouse orthologue of hSSB1/NABP2.
Shi W, Bain AL, Schwer B, Al-Ejeh F, Smith C, Wong L, Chai H, Miranda MS, Ho U, Kawaguchi M, Miura Y, Finnie JW, Wall M, Heierhorst J, Wicking C, Spring KJ, Alt FW, Khanna KK. Shi W, et al. PLoS Genet. 2013;9(2):e1003298. doi: 10.1371/journal.pgen.1003298. Epub 2013 Feb 7. PLoS Genet. 2013. PMID: 23408915 Free PMC article. - The helicase and ATPase activities of RECQL4 are compromised by mutations reported in three human patients.
Jensen MB, Dunn CA, Keijzers G, Kulikowicz T, Rasmussen LJ, Croteau DL, Bohr VA. Jensen MB, et al. Aging (Albany NY). 2012 Nov;4(11):790-802. doi: 10.18632/aging.100506. Aging (Albany NY). 2012. PMID: 23238538 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources