微卫星突变过程的两种不同模式：来自九个物种完整基因组序列的证据。
Two distinct modes of microsatellite mutation processes: evidence from the complete genomic sequences of nine species.
作者信息
Dieringer Daniel, Schlötterer Christian
机构信息
Institut für Tierzucht und Genetik, 1210 Wien, Austria.
出版信息
Genome Res. 2003 Oct;13(10):2242-51. doi: 10.1101/gr.1416703.
Abstract
We surveyed microsatellite distribution in 10 completely sequenced genomes. Using a permutation-based statistic, we assessed for all 10 genomes whether the microsatellite distribution significantly differed from expectations. Consistent with previous reports, we observed a highly significant excess of long microsatellites. Focusing on short microsatellites containing only a few repeat units, we demonstrate that this repeat class is significantly underrepresented in most genomes. This pattern was observed across different repeat types. Computer simulations indicated that neither base substitutions nor a combination of length-dependent slippage and base substitutions could explain the observed pattern of microsatellite distribution. When we introduced one additional mutation process, a length-independent slippage (indel slippage) operating at repeats with few repetitions, our computer simulations captured the observed pattern of microsatellite distribution.
摘要
我们调查了10个完全测序基因组中的微卫星分布情况。使用基于排列的统计方法，我们评估了所有10个基因组的微卫星分布是否与预期存在显著差异。与之前的报告一致，我们观察到长微卫星显著过量。聚焦于仅包含少数重复单元的短微卫星，我们证明了这类重复序列在大多数基因组中的代表性显著不足。这种模式在不同的重复类型中均有观察到。计算机模拟表明，碱基替换以及长度依赖性滑动和碱基替换的组合均无法解释所观察到的微卫星分布模式。当我们引入另一种突变过程，即在重复次数较少的重复序列上发生的与长度无关的滑动（插入缺失滑动）时，我们的计算机模拟捕捉到了所观察到的微卫星分布模式。
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