2. Academic Validation
  3. NTHL1 in genomic integrity, aging and cancer

NTHL1 in genomic integrity, aging and cancer

  • DNA Repair (Amst). 2020 Sep;93:102920. doi: 10.1016/j.dnarep.2020.102920.
Lipsa Das 1,  Victoria G Quintana 1,  Joann B Sweasy 2
Affiliations

Affiliations

  • 1 Department of Cellular and Molecular Medicine and University of Arizona Cancer Center, 1515 North Campbell Avenue, Tucson, AZ, 85724, United States.
  • 2 Department of Cellular and Molecular Medicine and University of Arizona Cancer Center, 1515 North Campbell Avenue, Tucson, AZ, 85724, United States. Electronic address: [email protected].
PMID: 33087284 DOI: 10.1016/j.dnarep.2020.102920
Abstract

Efficient DNA repair is essential to maintain genomic integrity. An average of 30,000 base lesions per cell are removed daily by the DNA glycosylases of the base excision repair machinery. With the advent of whole genome sequencing, many germline mutations in these DNA glycosylases have been identified and associated with various diseases, including Cancer. In this graphical review, we discuss the function of the NTHL1 DNA glycosylase and how genomic mutations and altered function of this protein contributes to Cancer and aging. We highlight its role in a rare tumor syndrome, NTHL1-associated polyposis (NAP), and summarize various other polymorphisms in NTHL1 that can induce early hallmarks of Cancer, including genomic instability and cellular transformation.

Keywords

Base excision repair; DNA glycosylase; DNA repair.

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