title: Role of the Bloom's syndrome helicase in maintenance of genome stability.
abstract: The RecQ family of DNA helicases has members in all organisms analysed. In humans, defects in three family members are associated with disease conditions: BLM is defective in Bloom's syndrome, WRN in Werner's syndrome and RTS in Rothmund-Thomson syndrome. In each case, cells from affected individuals show inherent genomic instability. The focus of our work is the Bloom's syndrome gene and its product, BLM. Here, we review the latest information concerning the roles of BLM in the maintenance of genome integrity.
authors.affiliation: Imperial Cancer Research Fund Laboratories, Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, U.K. hickson@icrf.icnet.uk
authors.forename: I D
authors.initials: ID
authors.lastname: Hickson
authors.forename: S L
authors.initials: SL
authors.lastname: Davies
authors.forename: J L
authors.initials: JL
authors.lastname: Li
authors.forename: N C
authors.initials: NC
authors.lastname: Levitt
authors.forename: P
authors.initials: P
authors.lastname: Mohaghegh
authors.forename: P S
authors.initials: PS
authors.lastname: North
authors.forename: L
authors.initials: L
authors.lastname: Wu
mesh_terms: D000251:Adenosine Triphosphatases / Q000737:chemistry / Q000378:metabolism*; D001816:Bloom Syndrome / Q000201:enzymology*; D002869:Chromosome Aberrations / Q000235:genetics; D004265:DNA Helicases / Q000737:chemistry / Q000378:metabolism*; D015894:Genome, Human; D006801:Humans; D010641:Phenotype; D011485:Protein Binding; D017434:Protein Structure, Tertiary; D021381:Protein Transport; D053484:RecQ Helicases; D011995:Recombination, Genetic / Q000235:genetics
chemical_list: D000251:Adenosine Triphosphatases; C097151:Bloom syndrome protein; C506725:RECQL protein, human; D004265:DNA Helicases; D053484:RecQ Helicases