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. 2003 Nov;85(11):1185-93.
doi: 10.1016/j.biochi.2003.10.006.

Human diseases deficient in RecQ helicases

J A Harrigan  1 , V A Bohr
Affiliations

Human diseases deficient in RecQ helicases

J A Harrigan et al. Biochimie. 2003 Nov.

Abstract

RecQ helicases are conserved from bacteria to man. Mutations in three of the human RecQ family members give rise to genetic disorders characterized by genomic instability and a predisposition to cancer. RecQ helicases are therefore caretakers of the genome, and although they do not directly regulate tumorigenesis, they influence stability and the rate of accumulation of genetic alterations, which in turn, result in tumorigenesis. Maintenance of genome stability by RecQ helicases likely involves their participation in DNA replication, recombination, and repair pathways.

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