2. Academic Validation
  3. Molecular genetics of RecQ helicase disorders

Molecular genetics of RecQ helicase disorders

  • Cell Mol Life Sci. 2007 Sep;64(17):2306-22. doi: 10.1007/s00018-007-7121-z.
K Hanada 1,  I D Hickson
Affiliations

Affiliation

  • 1 Cancer Research UK laboratories, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK.
PMID: 17571213 DOI: 10.1007/s00018-007-7121-z
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.

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