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Title: DNA Damage and Associated DNA Repair Defects in Disease and Premature Aging
Authors: Tiwari, Vinod
Wilson, David M., III 
Issue Date: 2019
Publisher: CELL PRESS
Source: AMERICAN JOURNAL OF HUMAN GENETICS, 105(2), p. 237-257
Abstract: Genetic information is constantly being attacked by intrinsic and extrinsic damaging agents, such as reactive oxygen species, atmospheric radiation, environmental chemicals, and chemotherapeutics. If DNA modifications persist, they can adversely affect the polymerization of DNA or RNA, leading to replication fork collapse or transcription arrest, or can serve as mutagenic templates during nucleic acid synthesis reactions. To combat the deleterious consequences of DNA damage, organisms have developed complex repair networks that remove chemical modifications or aberrant base arrangements and restore the genome to its original state. Not surprisingly, inherited or sporadic defects in DNA repair mechanisms can give rise to cellular outcomes that underlie disease and aging, such as transformation, apoptosis, and senescence. In the review here, we discuss several genetic disorders linked to DNA repair defects, attempting to draw correlations between the nature of the accumulating DNA damage and the pathological endpoints, namely cancer, neurological disease, and premature aging.
Notes: [Tiwari, Vinod; Wilson, David M., III] NIA, Lab Mol Gerontol, Intramural Res Program, NIH, 251 Bayview Blvd,Suite 100, Baltimore, MD 21224 USA. [Wilson, David M., III] Hasselt Univ, Biomed Res Inst, B-3590 Diepenbeek, Belgium.
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ISSN: 0002-9297
e-ISSN: 1537-6605
DOI: 10.1016/j.ajhg.2019.06.005
ISI #: 000478022200002
Rights: 2019 American Society of Human Genetics.
Category: A1
Type: Journal Contribution
Validations: ecoom 2020
Appears in Collections:Research publications

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