title: Molecular genetics of RecQ helicase disorders.
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.
authors.affiliation: Cancer Research UK laboratories, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK.
authors.forename: K
authors.initials: K
authors.lastname: Hanada
authors.forename: I D
authors.initials: ID
authors.lastname: Hickson
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics / Q000502:physiology; D000818:Animals; D001816:Bloom Syndrome / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D016922:Cellular Senescence / Q000235:genetics; D004249:DNA Damage; D004265:DNA Helicases / Q000235:genetics / Q000502:physiology; D049914:DNA Repair-Deficiency Disorders / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D004195:Disease Models, Animal; D006801:Humans; D051379:Mice; D010641:Phenotype; D053484:RecQ Helicases / Q000737:chemistry / Q000235:genetics / Q000502:physiology*; D011995:Recombination, Genetic; D013577:Syndrome; D014898:Werner Syndrome / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism
chemical_list: D000251:Adenosine Triphosphatases; C097151:Bloom syndrome protein; D004265:DNA Helicases; D053484:RecQ Helicases