Endogenous DNA replication stress results in expansion of dNTP pools and a mutator phenotype

MB Davidson, Y Katou, A Keszthelyi, TL Sing… - The EMBO …, 2012 - embopress.org
MB Davidson, Y Katou, A Keszthelyi, TL Sing, T Xia, J Ou, JA Vaisica, N Thevakumaran…
The EMBO journal, 2012embopress.org
The integrity of the genome depends on diverse pathways that regulate DNA metabolism.
Defects in these pathways result in genome instability, a hallmark of cancer. Deletion of
ELG1 in budding yeast, when combined with hypomorphic alleles of PCNA results in
spontaneous DNA damage during S phase that elicits upregulation of ribonucleotide
reductase (RNR) activity. Increased RNR activity leads to a dramatic expansion of
deoxyribonucleotide (dNTP) pools in G1 that allows cells to synthesize significant fractions …
The integrity of the genome depends on diverse pathways that regulate DNA metabolism. Defects in these pathways result in genome instability, a hallmark of cancer. Deletion of ELG1 in budding yeast, when combined with hypomorphic alleles of PCNA results in spontaneous DNA damage during S phase that elicits upregulation of ribonucleotide reductase (RNR) activity. Increased RNR activity leads to a dramatic expansion of deoxyribonucleotide (dNTP) pools in G1 that allows cells to synthesize significant fractions of the genome in the presence of hydroxyurea in the subsequent S phase. Consistent with the recognized correlation between dNTP levels and spontaneous mutation, compromising ELG1 and PCNA results in a significant increase in mutation rates. Deletion of distinct genome stability genes RAD54, RAD55, and TSA1 also results in increased dNTP levels and mutagenesis, suggesting that this is a general phenomenon. Together, our data point to a vicious circle in which mutations in gatekeeper genes give rise to genomic instability during S phase, inducing expansion of the dNTP pool, which in turn results in high levels of spontaneous mutagenesis.
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