scholarly journals Association of Base Excision Repair Gene Polymorphisms with ESRD Risk in a Chinese Population

2012 ◽  
Vol 2012 ◽  
pp. 1-10 ◽  
Author(s):  
Zhenming Cai ◽  
Huimei Chen ◽  
Jing Tao ◽  
Wenwen Guo ◽  
Xiufang Liu ◽  
...  
Keyword(s):  
Base Excision Repair ◽  
Oxidative Dna Damage ◽  
Excision Repair ◽  
Maintenance Hemodialysis ◽  
Repair Gene ◽  
Dna Oxidative Damage ◽  
Increased Risk ◽  
Base Excision ◽  
Stage Renal Disease ◽  
End Stage

The base excision repair (BER) pathway, containingOGG1, MTH1andMUTYH, is a major protector from oxidative DNA damage in humans, while 8-oxoguanine (8-OHdG), an index of DNA oxidation, is increased in maintenance hemodialysis (HD) patients. Four polymorphisms of BER genes, OGG1 c.977C > G (rs1052133),MTH1c.247G > A (rs4866),MUTYHc.972G > C (rs3219489), andAluYb8MUTYH(rs10527342), were examined in 337 HD patients and 404 healthy controls. And the 8-OHdG levels in leukocyte DNA were examined in 116 HD patients. The distribution ofMUTYHc.972 GG orAluYb8MUTYHdiffered between the two groups and was associated with a moderately increased risk for end-stage renal disease (ESRD) (P=0.013and 0.034, resp.). The average 8-OHdG/106 dG value was significantly higher in patients with theOGG1c.977G,MUTYHc.972G orAluYb8MUTYHalleles (P<0.001via ANOVA). Further analysis showed that combination ofMUTYHc.972GG withOGG1c.977GG orAluYb8MUTYHincreased both the risk for ESRD and leukocyte DNA 8-OHdG levels in HD patients. Our study showed thatMUTYHc.972GG,AluYb8MUTYH, and combination ofOGG1c.977GG increased the risk for ESRD development in China and suggested that DNA oxidative damage might be involved in such process.

scholarly journals Germline loss-of-function variants in the base-excision repair gene MBD4 cause a Mendelian recessive syndrome of adenomatous colorectal polyposis and acute myeloid leukaemia

2021 ◽  
Author(s):  
Claire Palles ◽  
Edward Chew ◽  
Judith E. Grolleman ◽  
Sara Galavotti ◽  
Christoffer Flensburg ◽  
...  
Keyword(s):  
Base Excision Repair ◽  
Excision Repair ◽  
Genetic Diagnosis ◽  
Adenomatous Polyposis ◽  
Loss Of Function ◽  
Driver Genes ◽  
Repair Gene ◽  
Colorectal Polyposis ◽  
Increased Risk ◽  
Base Excision

ABSTRACTInherited defects in base-excision repair (BER) predispose to adenomatous polyposis and colorectal cancer (CRC), yet our understanding of this important DNA repair pathway remains incomplete. By combining detailed clinical, histological and molecular profiling, we reveal biallelic germline loss-of-function (LOF) variants in the BER gene MBD4 to predispose to adenomatous polyposis and –uniquely amongst CRC predisposition syndromes– to myeloid neoplasms. Neoplasms from MBD4-deficient patients almost exclusively accumulate somatic CpG>TpG mutations, resembling mutational signature SBS1. MBD4-deficient adenomas harbour mutations in known CRC driver genes, although AMER1 mutations were more common and KRAS mutations less frequent. We did not find an increased risk for colorectal tumours in individuals with a monoallelic MBD4 LOF variant. We suggest that this condition should be termed MBD4-associated neoplasia syndrome (MANS) and that MBD4 is included in testing for the genetic diagnosis of polyposis and/or early-onset AML.

Association of genetic polymorphism of the DNA base excision repair gene (APE-1 Asp/148 Glu) and HPV type (16/18) with the risk of cervix cancer in north Indian population

2008 ◽  
Vol 4 (2) ◽  
pp. 63-71 ◽  
Author(s):  
Mohammad Shekari ◽  
Ranbir Chander Sobti ◽  
Dor Mohammad Kordi Tamandani ◽  
Keyanoosh Malekzadeh ◽  
Pushpinder Kaur ◽  
...  
Keyword(s):  
Genetic Polymorphism ◽  
Base Excision Repair ◽  
Indian Population ◽  
Excision Repair ◽  
Cervix Cancer ◽  
North Indian Population ◽  
Repair Gene ◽  
Dna Base Excision Repair ◽  
Dna Base ◽  
Base Excision

scholarly journals Alterations of the base excision repair gene MUTYH in sporadic colorectal cancer

2012 ◽  
Vol 28 (2) ◽  
pp. 473-480 ◽  
Author(s):  
TAKASHI KUNO ◽  
NAGAHIDE MATSUBARA ◽  
SATOSHI TSUDA ◽  
MASAYOSHI KOBAYASHI ◽  
MIE HAMANAKA ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Base Excision Repair ◽  
Excision Repair ◽  
Sporadic Colorectal Cancer ◽  
Repair Gene ◽  
Base Excision

scholarly journals Dynamic Compartmentalization of Base Excision Repair Proteins in Response to Nuclear and Mitochondrial Oxidative Stress

2008 ◽  
Vol 29 (3) ◽  
pp. 794-807 ◽  
Author(s):  
Lyra M. Griffiths ◽  
Dan Swartzlander ◽  
Kellen L. Meadows ◽  
Keith D. Wilkinson ◽  
Anita H. Corbett ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Dna Damage ◽  
Dna Repair ◽  
Base Excision Repair ◽  
Oxidative Dna Damage ◽  
Excision Repair ◽  
Intracellular Localization ◽  
Genotoxic Stress ◽  
Mitochondrial Oxidative Stress ◽  
Base Excision

ABSTRACT DNAs harbored in both nuclei and mitochondria of eukaryotic cells are subject to continuous oxidative damage resulting from normal metabolic activities or environmental insults. Oxidative DNA damage is primarily reversed by the base excision repair (BER) pathway, initiated by N-glycosylase apurinic/apyrimidinic (AP) lyase proteins. To execute an appropriate repair response, BER components must be distributed to accommodate levels of genotoxic stress that may vary considerably between nuclei and mitochondria, depending on the growth state and stress environment of the cell. Numerous examples exist where cells respond to signals, resulting in relocalization of proteins involved in key biological transactions. To address whether such dynamic localization contributes to efficient organelle-specific DNA repair, we determined the intracellular localization of the Saccharomyces cerevisiae N-glycosylase/AP lyases, Ntg1 and Ntg2, in response to nuclear and mitochondrial oxidative stress. Fluorescence microscopy revealed that Ntg1 is differentially localized to nuclei and mitochondria, likely in response to the oxidative DNA damage status of the organelle. Sumoylation is associated with targeting of Ntg1 to nuclei containing oxidative DNA damage. These studies demonstrate that trafficking of DNA repair proteins to organelles containing high levels of oxidative DNA damage may be a central point for regulating BER in response to oxidative stress.

scholarly journals Base excision repair of oxidative DNA damage and association with cancer and aging

2008 ◽  
Vol 30 (1) ◽  
pp. 2-10 ◽  
Author(s):  
S. Maynard ◽  
S. H. Schurman ◽  
C. Harboe ◽  
N. C. de Souza-Pinto ◽  
V. A. Bohr
Keyword(s):  
Dna Damage ◽  
Base Excision Repair ◽  
Oxidative Dna Damage ◽  
Excision Repair ◽  
Base Excision
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