人类DNA修复基因POLB中的种系突变导致的基因组不稳定。 - Suppr

Genome instability caused by a germline mutation in the human DNA repair gene POLB.

作者信息

Sobol Robert W

机构信息

Department of Pharmacology and Chemical Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, United States of America.

出版信息

PLoS Genet. 2012;8(11):e1003086. doi: 10.1371/journal.pgen.1003086. Epub 2012 Nov 8.

DOI:10.1371/journal.pgen.1003086

PMID:23144636

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3493457/

Abstract

摘要

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Genome instability caused by a germline mutation in the human DNA repair gene POLB.

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J Am Chem Soc. 2012 Jun 20;134(24):9999-10010. doi: 10.1021/ja300361r. Epub 2012 Jun 11.

The E288K colon tumor variant of DNA polymerase β is a sequence specific mutator.

Biochemistry. 2012 Jul 3;51(26):5269-75. doi: 10.1021/bi3003583. Epub 2012 Jun 19.

Human POLB gene is mutated in high percentage of colorectal tumors.

J Biol Chem. 2012 Jul 6;287(28):23830-9. doi: 10.1074/jbc.M111.324947. Epub 2012 May 10.

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J Biol Chem. 2012 Jul 6;287(28):23840-9. doi: 10.1074/jbc.M112.362111. Epub 2012 May 9.

Y265C DNA polymerase beta knockin mice survive past birth and accumulate base excision repair intermediate substrates.

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Genome instability caused by a germline mutation in the human DNA repair gene POLB.

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