Genome Instability Caused by a Germline Mutation in the Human DNA Repair Gene POLB
نویسنده
چکیده
1 Department of Pharmacology and Chemical Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, United States of America, 2 University of Pittsburgh Cancer Institute, Hillman Cancer Center, Pittsburgh, Pennsylvania, United States of America, 3 Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania, United States of America
منابع مشابه
A Germline Polymorphism of DNA Polymerase Beta Induces Genomic Instability and Cellular Transformation
Several germline single nucleotide polymorphisms (SNPs) have been identified in the POLB gene, but little is known about their cellular and biochemical impact. DNA Polymerase β (Pol β), encoded by the POLB gene, is the main gap-filling polymerase involved in base excision repair (BER), a pathway that protects the genome from the consequences of oxidative DNA damage. In this study we tested the ...
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Abstract Background: Hereditary non-polyposis colorectal cancer is the most common cause of early onset of hereditary colorectal cancer. In the majority of Hereditary non-polyposis colorectal cancer families, microsatellite instability and germline mutation in one of the DNA mismatch repair genes in clouding MSH2, MLH1, MSH6 and PMS2 are found. The Objective of this study was to determine th...
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Regions of acute and chronic hypoxia exist within solid tumors and can lead to increased rates ofmutagenesis and/ or altered DNA damage and repair protein expression. Base excision repair (BER) is responsible for resolving small, non–helix-distorting lesions from the genome that potentially cause mutations by mispairing or promoting DNA breaks during replication. Germline and somatic mutations ...
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Gastric cancer (GC) is a major cause of global cancer mortality. Genetic variations in DNA repair genes can modulate DNA repair capability and, consequently, have been associated with risk of developing cancer. We have previously identified a T to C point mutation at nucleotide 889 (T889C) in DNA polymerase beta (POLB) gene, a key enzyme involved in base excision repair in primary GCs. The purp...
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