Molecular genetics of RecQ helicase disorders |
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| Authors: | K Hanada I D Hickson |
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| Institution: | (1) Cancer Research UK laboratories, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, OX3 9DS, UK |
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| 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.
Received 9 March 2007; received after revision 26 April 2007; accepted 2 May 2007 |
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| Keywords: | RecQ helicases DNA repair homologous recombination chromosomal instability cancer pre-disposition premature aging telomeres |
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