TY - JOUR
T1 - NTHL1 in genomic integrity, aging and cancer
AU - Das, Lipsa
AU - Quintana, Victoria G.
AU - Sweasy, Joann B.
N1 - Publisher Copyright:
© 2020 Elsevier B.V.
PY - 2020/9
Y1 - 2020/9
N2 - 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.
AB - 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.
KW - Base excision repair
KW - DNA glycosylase
KW - DNA repair
UR - http://www.scopus.com/inward/record.url?scp=85091895231&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85091895231&partnerID=8YFLogxK
U2 - 10.1016/j.dnarep.2020.102920
DO - 10.1016/j.dnarep.2020.102920
M3 - Review article
C2 - 33087284
AN - SCOPUS:85091895231
SN - 1568-7864
VL - 93
JO - DNA Repair
JF - DNA Repair
M1 - 102920
ER -