Regional and time-resolved mutation patterns of the human genome
Regional and time-resolved mutation patterns of the human genome
复制标题
DOI：
10.1093/bioinformatics/bth105
复制
发表时间：
2004-07-01
期刊：
影响因子：
5.8
通讯作者：
Hwa, T
中科院分区：
文献类型：
--
作者：
Arndt, PF;Hwa, T
动机：最近从人/小鼠比较中报道了替代过程的大量区域变化。然而，几个功能，包括C + G的依赖性和基于CpG的转换effects.Results：利用大量的转座因子在人类基因组中，我们进行了详细的分析的替代和插入/缺失模式沿着人类血统的区域和时间分辨的方式。我们观察到一个急剧增加的CpG基的过渡频率在哺乳动物辐射的时间。我们还观察到明显的区域性替代模式的偏见，最显着的偏向，以丰富的C+G含量向端粒。
Motivation: Substantial regional variations of substitutional processes have recently been reported from human/mouse comparisons. However, several features including the C + G dependence and the CpG-based transition effect remain obscure.Results: Utilizing the vast amount of transposable elements in the human genome, we performed detailed analysis of the substitutional and insertion/deletion patterns along the human lineage in a regional and time-resolved fashion. We observed a drastic increase in the CpG-based transition frequency at about the time of the mammalian radiation. We also observed clear regional biases of substitution patterns, most notably a bias to enrich the C+G content toward the telomeres.