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Comparative Analysis of Context-Dependent Mutagenesis in Humans and Fruit Flies

机译:人类和果蝇中背景相关诱变的比较分析

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摘要

In general, mutation frequencies are context-dependent: specific adjacent nucleotides may influence the probability to observe a specific type of mutation in a genome. Recently, several hypermutable motifs were identified in the human genome. Namely, there is an increased frequency of T>C mutations in the second position of the words ATTG and ATAG and an increased frequency of A>C mutations in the first position of the word ACAA. Previous studies have also shown that there is a remarkable difference between the mutagenesis of humans and drosophila. While C>T mutations are overrepresented in the CG context in humans (and other vertebrates), this mutation regularity is not observed in Drosophila melanogaster. Such differences in the observed regularities of mutagenesis between representatives of different taxa might reflect differences in the mechanisms involved in mutagenesis. We performed a systematical comparison of mutation regularities within 2–4 bp contexts in Homo sapiens and Drosophila melanogaster and found that the aforementioned contexts are not hypermutable in fruit flies. It seems that most mutation contexts affect mutation rates in a similar manner in H. sapiens and D. melanogaster; however, several important exceptions are noted and discussed.
机译:通常,突变频率是取决于上下文的:特定的相邻核苷酸可能会影响观察基因组中特定类型的突变的可能性。最近,在人类基因组中发现了几个超变基元。即,在单词ATTG和ATAG的第二位置中T> C突变的频率增加,在单词ACAA的第一位置中A> C突变的频率增加。先前的研究还表明,人类和果蝇的诱变之间存在显着差异。虽然C> T突变在人(和其他脊椎动物)的CG环境中过分代表,但在果蝇中没有观察到这种突变规律。在不同分类群的代表之间观察到的诱变规律的这种差异可能反映了诱变机制的差异。我们对智人和果蝇果蝇2-4个bp范围内的突变规律进行了系统的比较,发现上述背景在果蝇中不是高度可变的。似乎大多数突变背景在智人和D. melanogaster中以相似的方式影响突变率。但是,注意到并讨论了几个重要的例外。

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