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Annu Rev Biochem. 2014;83:519-52. doi: 10.1146/annurev-biochem-060713-035428. Epub 2014 Mar 3.

Human RecQ helicases in DNA repair, recombination, and replication.

Author information

1
Laboratory of Molecular Gerontology, National Institute on Aging, Baltimore, Maryland 21224; email: vbohr@nih.gov.

Abstract

RecQ helicases are an important family of genome surveillance proteins conserved from bacteria to humans. Each of the five human RecQ helicases plays critical roles in genome maintenance and stability, and the RecQ protein family members are often referred to as guardians of the genome. The importance of these proteins in cellular homeostasis is underscored by the fact that defects in BLM, WRN, and RECQL4 are linked to distinct heritable human disease syndromes. Each human RecQ helicase has a unique set of protein-interacting partners, and these interactions dictate its specialized functions in genome maintenance, including DNA repair, recombination, replication, and transcription. Human RecQ helicases also interact with each other, and these interactions have significant impact on enzyme function. Future research goals in this field include a better understanding of the division of labor among the human RecQ helicases and learning how human RecQ helicases collaborate and cooperate to enhance genome stability.

KEYWORDS:

BLM; RECQL1; RECQL4; RECQL5; WRN; genome stability

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