中国仓鼠卵巢细胞APRT基因座的自发突变谱：DNA序列水平分析
Spectrum of spontaneous mutation at the APRT locus of Chinese hamster ovary cells: an analysis at the DNA sequence level.
作者信息
de Jong P J, Grosovsky A J, Glickman B W
机构信息
York University, Department of Biology, North York, ON, Canada.
出版信息
Proc Natl Acad Sci U S A. 1988 May;85(10):3499-503. doi: 10.1073/pnas.85.10.3499.
Abstract
The spectrum of spontaneous mutation of an endogenous mammalian cell gene has been determined at the DNA sequence level. Thirty independent spontaneous APRT- mutations were cloned and subsequently completely sequenced. Twenty-seven contained single base substitutions. Of these, 22 were G.C to A.T transitions, suggesting a major role for the deamination of cytosine in spontaneous mutagenesis of Chinese hamster ovary cells. The remaining mutants included a tandem double substitution, a -1 frameshift, and a 17-base-pair deletion flanked by a 2-base-pair direct repeat. Many of the independently recovered mutants were clustered at sites of multiple occurrence (hot spots). One site accounted for greater than 25% of all independently recovered events. Mutations were generally located within the coding sequence, although two mutations occurred within the consensus sequence for a 3' splice site.
摘要
已在DNA序列水平上确定了内源性哺乳动物细胞基因的自发突变谱。克隆了30个独立的自发APRT-突变体，随后对其进行了全序列测定。其中27个含有单碱基替换。在这些替换中，22个是G.C到A.T的转换，这表明胞嘧啶脱氨在中国仓鼠卵巢细胞的自发诱变中起主要作用。其余的突变体包括一个串联双替换、一个-1移码突变和一个由2个碱基对直接重复序列侧翼的17个碱基对缺失。许多独立获得的突变体聚集在多次出现的位点（热点）。一个位点占所有独立获得事件的25%以上。突变通常位于编码序列内，尽管有两个突变发生在3'剪接位点的共有序列内。
相似文献
1
Spectrum of spontaneous mutation at the APRT locus of Chinese hamster ovary cells: an analysis at the DNA sequence level.中国仓鼠卵巢细胞APRT基因座的自发突变谱：DNA序列水平分析
Proc Natl Acad Sci U S A. 1988 May;85(10):3499-503. doi: 10.1073/pnas.85.10.3499.
2
DNA amplification--deletion in a spontaneous mutation of the hamster aprt locus: structure and sequence of the novel joint.DNA扩增——仓鼠aprt基因座自发突变中的缺失：新型接头的结构与序列
Nucleic Acids Res. 1986 Nov 11;14(21):8361-71. doi: 10.1093/nar/14.21.8361.
3
The specificity of UV-induced mutations at an endogenous locus in mammalian cells.哺乳动物细胞内源性位点紫外线诱导突变的特异性。
Proc Natl Acad Sci U S A. 1987 Dec;84(24):9103-7. doi: 10.1073/pnas.84.24.9103.
4
High-frequency structural gene deletion as the basis for functional hemizygosity of the adenine phosphoribosyltransferase locus in Chinese hamster ovary cells.高频结构基因缺失作为中国仓鼠卵巢细胞中腺嘌呤磷酸核糖转移酶基因座功能半合子状态的基础。
Proc Natl Acad Sci U S A. 1983 Oct;80(19):5961-4. doi: 10.1073/pnas.80.19.5961.
5
Sequence specificity of mutations induced by benzo[a]pyrene-7,8-diol-9,10-epoxide at endogenous aprt gene in CHO cells.
Somat Cell Mol Genet. 1988 Jul;14(4):393-400. doi: 10.1007/BF01534647.
6
Sequence specificity of mutation induced by the anti-tumor drug cisplatin in the CHO aprt gene.
Carcinogenesis. 1989 Aug;10(8):1363-7. doi: 10.1093/carcin/10.8.1363.
7
DNA sequence analysis of spontaneous mutations at the aprt locus of hamster cells.
Mol Cell Biol. 1987 Apr;7(4):1445-9. doi: 10.1128/mcb.7.4.1445-1449.1987.
8
Molecular basis of spontaneous mutation at the aprt locus of hamster cells.仓鼠细胞aprt基因座自发突变的分子基础。
J Mol Biol. 1989 Oct 20;209(4):577-82. doi: 10.1016/0022-2836(89)90595-0.
9
Structure of mutant alleles at the aprt locus of Chinese hamster ovary cells.中国仓鼠卵巢细胞aprt基因座突变等位基因的结构
J Mol Biol. 1983 Jul 5;167(3):575-94. doi: 10.1016/s0022-2836(83)80099-0.
10
Loss of heterozygosity in mammalian cell mutagenesis: molecular analysis of spontaneous mutations at the aprt locus in CHO cells.
Carcinogenesis. 1990 Sep;11(9):1485-90. doi: 10.1093/carcin/11.9.1485.
引用本文的文献
1
Small-molecule activator of SMUG1 enhances repair of pyrimidine lesions in DNA.SMUG1的小分子激活剂可增强DNA中嘧啶损伤的修复。
DNA Repair (Amst). 2025 Feb;146:103809. doi: 10.1016/j.dnarep.2025.103809. Epub 2025 Jan 14.
2
Structural bioinformatics studies of serotonin, dopamine and norepinephrine transporters and their AlphaFold2 predicted water-soluble QTY variants and uncovering the natural mutations of L->Q, I->T, F->Y and Q->L, T->I and Y->F.对血清素、多巴胺和去甲肾上腺素转运体的结构生物信息学研究及其 AlphaFold2 预测的水溶性 QTY 变体，并揭示 L->Q、I->T、F->Y 和 Q->L、T->I 和 Y->F 的自然突变。
PLoS One. 2024 Mar 22;19(3):e0300340. doi: 10.1371/journal.pone.0300340. eCollection 2024.
3
Chemically induced mutations in a MutaMouse reporter gene inform mechanisms underlying human cancer mutational signatures.化学诱导的 MutaMouse 报告基因突变揭示了人类癌症突变特征的潜在机制。
Commun Biol. 2020 Aug 14;3(1):438. doi: 10.1038/s42003-020-01174-y.
4
Different mutation frequencies and spectra among organs by N-methyl-N-nitrosourea in rpsL (strA) transgenic mice.N-甲基-N-亚硝基脲诱导的rpsL（strA）转基因小鼠各器官间不同的突变频率和谱。
Jpn J Cancer Res. 2000 May;91(5):482-91. doi: 10.1111/j.1349-7006.2000.tb00971.x.
5
Mutator phenotype induced by aberrant replication.异常复制诱导的突变体表型
Mol Cell Biol. 1999 Feb;19(2):1126-35. doi: 10.1128/MCB.19.2.1126.
6
Transcription-induced mutations: increase in C to T mutations in the nontranscribed strand during transcription in Escherichia coli.转录诱导突变：大肠杆菌转录过程中非转录链上C到T突变的增加。
Proc Natl Acad Sci U S A. 1996 Nov 26;93(24):13919-24. doi: 10.1073/pnas.93.24.13919.
7
High-frequency illegitimate integration of transfected DNA at preintegrated target sites in a mammalian genome.转染DNA在哺乳动物基因组中预整合靶位点处的高频非法整合。
Mol Cell Biol. 1996 Jan;16(1):10-8. doi: 10.1128/MCB.16.1.10.
8
Efficient removal of uracil from G.U mispairs by the mismatch-specific thymine DNA glycosylase from HeLa cells.来自HeLa细胞的错配特异性胸腺嘧啶DNA糖基化酶可有效去除G·U错配中的尿嘧啶。
Proc Natl Acad Sci U S A. 1994 Mar 1;91(5):1642-6. doi: 10.1073/pnas.91.5.1642.
9
A mismatch recognition defect in colon carcinoma confers DNA microsatellite instability and a mutator phenotype.结肠癌中的错配识别缺陷导致DNA微卫星不稳定性和突变体表型。
Proc Natl Acad Sci U S A. 1994 Sep 13;91(19):8905-9. doi: 10.1073/pnas.91.19.8905.
10
Mammalian assay for site-specific DNA damage processing using the human H-ras proto-oncogene.
Nucleic Acids Res. 1995 Jun 25;23(12):2269-76. doi: 10.1093/nar/23.12.2269.
本文引用的文献
1
FINE STRUCTURE OF A GENETIC REGION IN BACTERIOPHAGE.噬菌体遗传区域的精细结构
Proc Natl Acad Sci U S A. 1955 Jun 15;41(6):344-54. doi: 10.1073/pnas.41.6.344.
2
High-frequency nonrandom mutational event at the adenine phosphoribosyltransferase (aprt) locus of sib-selected CHO variants heterozygous for aprt.在腺嘌呤磷酸核糖转移酶（aprt）杂合的同胞选择的中国仓鼠卵巢（CHO）变体的aprt基因座处发生的高频非随机突变事件。
Somatic Cell Genet. 1982 Jan;8(1):51-66. doi: 10.1007/BF01538650.
3
A catalogue of splice junction sequences.剪接连接序列目录。
Nucleic Acids Res. 1982 Jan 22;10(2):459-72. doi: 10.1093/nar/10.2.459.
4
Mutagenic deamination of cytosine residues in DNA.DNA中胞嘧啶残基的诱变脱氨基作用。
Nature. 1980 Oct 9;287(5782):560-1. doi: 10.1038/287560a0.
5
Model involving gene inactivation in the generation of autosomal recessive mutants in mammalian cells in culture.涉及在培养的哺乳动物细胞中产生常染色体隐性突变体时基因失活的模型。
Mol Cell Biol. 1982 Sep;2(9):1126-33. doi: 10.1128/mcb.2.9.1126-1133.1982.
6
Purification of genomic sequences from bacteriophage libraries by recombination and selection in vivo.通过体内重组和筛选从噬菌体文库中纯化基因组序列。
Nucleic Acids Res. 1983 Apr 25;11(8):2427-45. doi: 10.1093/nar/11.8.2427.
7
Structural intermediates of deletion mutagenesis: a role for palindromic DNA.缺失诱变的结构中间体：回文DNA的作用
Proc Natl Acad Sci U S A. 1984 Jan;81(2):512-6. doi: 10.1073/pnas.81.2.512.
8
High mutation frequency in DNA transfected into mammalian cells.转染到哺乳动物细胞中的DNA具有高突变频率。
Proc Natl Acad Sci U S A. 1983 May;80(10):3015-9. doi: 10.1073/pnas.80.10.3015.
9
Nonrandomness of point mutation as reflected in nucleotide substitutions in pseudogenes and its evolutionary implications.假基因中核苷酸替换所反映的点突变的非随机性及其进化意义。
J Mol Evol. 1984;21(1):58-71. doi: 10.1007/BF02100628.
10
Comparison of the frequency of diphtheria toxin and thioguanine resistance induced by a series of carcinogens to analyze their mutational specificities in diploid human fibroblasts.
Mutat Res. 1984 Jan;125(1):95-104. doi: 10.1016/0027-5107(84)90036-8.
Zotero 插件