Variant base excision repair proteins: contributors to genomic instability.
Variant base excision repair proteins: contributors to genomic instability.
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DOI：
10.1016/j.semcancer.2010.10.010
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发表时间：
2010-10
影响因子：
14.5
通讯作者：
Sweasy JB
中科院分区：
文献类型：
--
作者：
Nemec AA;Wallace SS;Sweasy JB
细胞以每天每个细胞超过 20,000 个 DNA 损伤的速度承受内源性 DNA 损伤。这些损伤的发生很大程度上是由于 DNA 固有的不稳定性质和细胞内活性氧的存在。碱基切除修复系统可去除大部分由内源性 DNA 损伤引起的 DNA 损伤。有几种酶在碱基切除修复过程中发挥作用。重要的是，基因中有超过 100 个种系单核苷酸多态性，这些基因在碱基切除修复中发挥作用，并导致它们编码的蛋白质中出现非同义氨基酸取代。这些酶的体细胞变体也存在于人类肿瘤中。变异修复酶催化异常碱基切除修复。随着时间的推移，异常的碱基切除修复与持续的内源性 DNA 损伤相结合，有可能导致突变表型。关键生长控制基因中出现的突变、染色体数量不平衡、染色体易位和杂合性丧失可能导致人类癌症的发生或其进展。
Cells sustain endogenous DNA damage at rates greater than 20,000 DNA lesions per cell per day. These damages occur largely as a result of the inherently unstable nature of DNA and the presence of reactive oxygen species within cells. The base excision repair system removes the majority of DNA lesions resulting from endogenous DNA damage. There are several enzymes that function during base excision repair. Importantly, there are over 100 germline single nucleotide polymorphisms in genes that function in base excision repair and that result in non-synonymous amino acid substitutions in the proteins they encode. Somatic variants of these enzymes are also found in human tumors. Variant repair enzymes catalyze aberrant base excision repair. Aberrant base excision repair combined with continuous endogenous DNA damage over time has the potential to lead to a mutator phenotype. Mutations that arise in key growth control genes, imbalances in chromosome number, chromosomal translocations, and loss of heterozygosity can result in the initiation of human cancer or its progression.
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影响因子：
2.9
作者：
Asagoshi, K;Odawara, H;Ide, H
通讯作者：
Ide, H
影响因子：
14.9
作者：
Berquist BR;Singh DK;Fan J;Kim D;Gillenwater E;Kulkarni A;Bohr VA;Ackerman EJ;Tomkinson AE;Wilson DM 3rd
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影响因子：
2.9
作者：
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通讯作者：
Sweasy, JB
DOI：
10.1073/pnas.2334585100
发表时间：
2003-12-09
影响因子：
11.1
作者：
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通讯作者：
Bellacosa, A
影响因子：
14.9
作者：
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通讯作者：
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