title: Human premature aging, DNA repair and RecQ helicases.
abstract: Genomic instability leads to mutations, cellular dysfunction and aberrant phenotypes at the tissue and organism levels. A number of mechanisms have evolved to cope with endogenous or exogenous stress to prevent chromosomal instability and maintain cellular homeostasis. DNA helicases play important roles in the DNA damage response. The RecQ family of DNA helicases is of particular interest since several human RecQ helicases are defective in diseases associated with premature aging and cancer. In this review, we will provide an update on our understanding of the specific roles of human RecQ helicases in the maintenance of genomic stability through their catalytic activities and protein interactions in various pathways of cellular nucleic acid metabolism with an emphasis on DNA replication and repair. We will also discuss the clinical features of the premature aging disorders associated with RecQ helicase deficiencies and how they relate to the molecular defects.
authors.affiliation: Laboratory of Molecular Gerontology, National Institute on Aging, NIH, 5600 Nathan Shock Drive, Baltimore, MD 21224, USA.
authors.forename: Robert M
authors.initials: RM
authors.lastname: Brosh
authors.forename: Vilhelm A
authors.initials: VA
authors.lastname: Bohr
mesh_terms: D019588:Aging, Premature / Q000175:diagnosis / Q000235:genetics*; D043171:Chromosomal Instability; D004260:DNA Repair; D004261:DNA Replication; D005090:Exodeoxyribonucleases; D006801:Humans; D009154:Mutation; D009369:Neoplasms / Q000188:drug therapy / Q000235:genetics; D053484:RecQ Helicases / Q000037:antagonists & inhibitors / Q000235:genetics / Q000502:physiology*; D051716:Replication Protein A / Q000378:metabolism; D012854:Sister Chromatid Exchange; D016615:Telomere / Q000378:metabolism; D000071657:Werner Syndrome Helicase
chemical_list: D051716:Replication Protein A; D005090:Exodeoxyribonucleases; D053484:RecQ Helicases; C098785:WRN protein, human; D000071657:Werner Syndrome Helicase