Roles of the Bloom's syndrome helicase in the maintenance of genome stability.
The RecQ family of DNA helicases is highly conserved in evolution from bacteria to humans. Of the five known human RecQ family members, three (BLM, WRN and RECQ4, which cause Bloom's syndrome, Werner's syndrome and Rothmund-Thomson syndrome respectively) are mutated in distinct clinical disorders associated with cancer predisposition and/or premature aging. BLM forms part of a multienzyme complex including topoisomerase IIIalpha, replication protein A and a newly identified factor called BLAP75. Together, these proteins play a role in the resolution of DNA structures that arise during the process of homologous recombination repair. In the absence of BLM, cells show genomic instability and a high incidence of sister-chromatid exchanges. In addition to a DNA structure-specific helicase activity, BLM also catalyses Holliday-junction branch migration and the annealing of complementary single-stranded DNA molecules.
Cheok
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Cancer Research UK Laboratories, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK.
Bachrati
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Chan
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Ralf
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Wu
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Hickson
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ID
D000251:Adenosine Triphosphatases / Q000378:metabolism*; D001816:Bloom Syndrome / Q000235:genetics / Q000378:metabolism; D004265:DNA Helicases / Q000378:metabolism*; D045566:DNA, Cruciform; D004277:DNA, Single-Stranded; D005090:Exodeoxyribonucleases; D042822:Genomic Instability; D006801:Humans; D009690:Nucleic Acid Conformation; D053484:RecQ Helicases; D011995:Recombination, Genetic; D014898:Werner Syndrome / Q000235:genetics / Q000378:metabolism; D000071657:Werner Syndrome Helicase
D045566:DNA, Cruciform; D004277:DNA, Single-Stranded; D005090:Exodeoxyribonucleases; D000251:Adenosine Triphosphatases; C097151:Bloom syndrome protein; D004265:DNA Helicases; D053484:RecQ Helicases; C098785:WRN protein, human; D000071657:Werner Syndrome Helicase