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。
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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.
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