Journal Article

DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders

Payam Mohaghegh and Ian D. Hickson

in Human Molecular Genetics

Volume 10, issue 7, pages 741-746
Published in print April 2001 | ISSN: 0964-6906
Published online April 2001 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/10.7.741
DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders

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Deficiency in a helicase of the RecQ family is found in at least three human genetic disorders associated with cancer predisposition and/or premature ageing. The RecQ helicases encoded by the BLM, WRN and RECQ4 genes are defective in Bloom’s, Werner’s and Rothmund–Thomson syndromes, respectively. Cells derived from individuals with these disorders in each case show inherent genomic instability. Recent studies have demonstrated direct interactions between these RecQ helicases and human nuclear proteins required for several aspects of chromosome maintenance, including p53, BRCA1, topoisomerase III, replication protein A and DNA polymerase δ. Here, we review this network of protein interactions, and the clues that they present regarding the potential roles of RecQ family members in DNA repair, replication and/or recombination pathways.

Journal Article.  5151 words.  Illustrated.

Subjects: Genetics and Genomics

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