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.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Adenosine Triphosphatases / chemistry
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Adenosine Triphosphatases / metabolism*
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Bloom Syndrome / enzymology*
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Chromosome Aberrations / genetics
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DNA Helicases / chemistry
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DNA Helicases / metabolism*
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Genome, Human*
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Humans
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Phenotype
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Protein Binding
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Protein Structure, Tertiary
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Protein Transport
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RecQ Helicases
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Recombination, Genetic / genetics
Substances
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Adenosine Triphosphatases
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Bloom syndrome protein
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RECQL protein, human
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DNA Helicases
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RecQ Helicases