Function of RecQ helicases in genome stability

$330,715ZIAFY2021AGNIH

National Institute On Aging

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Abstract

DNA damage accumulates during life and is thought to contribute to aging and genomic instability. Therefore, defining those proteins and pathways that maintain genomic stability is critical in preventing aging and age-related degeneration. This project aims to understand what roles human RecQ proteins play in DNA repair and genome stability. RecQ proteins play fundamental roles in several DNA metabolic pathways including DNA double-strand break repair (DSBR), including homologous recombination (HR), non-homologous end joining (NHEJ), and replication. Three of the five human RecQ helicases, WRN, BLM, and RECQL4, are associated with monogenic diseases. Some of these diseases are further linked with skin and hair abnormalities. In a recent review, we describe skin problems in RecQ-associated diseases and discuss them in context with another age-related disorder, Cockayne Syndrome. Further research is needed to understand the relationship more fully between RecQ helicase disorders and skin dysfunction

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