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Quantifying the mechanisms for segmental duplications in mammalian genomes by statistical analysis and modeling

机译:通过统计分析和建模量化哺乳动物基因组中节段重复的机制

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摘要

A large number of the segmental duplications in mammalian genomes have been cataloged by genome-wide sequence analyses. The molecular mechanisms involved in these duplications mostly remain a matter of speculation. To uncover, test, and further quantify the hypotheses on the mechanisms for the recent duplications in the mammalian genomes, we have performed a series of statistical analyses on the sequences flanking the duplicated segments and proposed a dynamic model for the duplication process. The model, when applied to the human duplication data, indicates that ≈30% of the recent human segmental duplications were caused by a recombination-like mechanism, among which 12% were mediated by the most recently active repeat, Alu. But a significant proportion of the duplications are caused by some mechanism independent of the repeat distribution. A less sure but similar picture is found in the rodent genomes. A further analysis on the physical features of the flanking sequences suggests that one of the uncharacterized duplication mechanisms shared by the mammalian genomes is surprisingly well correlated with the physical instability in the DNA sequences.
机译:哺乳动物基因组中的大量节段重复已通过全基因组序列分析进行了分类。这些重复中涉及的分子机制大部分仍是推测问题。为了揭示,测试和进一步量化关于哺乳动物基因组中最近重复的机制的假设,我们对重复片段两侧的序列进行了一系列统计分析,并提出了复制过程的动态模型。该模型应用于人类重复数据时,表明约30%的近期人类节段重复是由类似重组的机制引起的,其中12%由最近活跃的重复序列Alu介导。但是,大部分重复是由某种与重复分布无关的机制引起的。在啮齿类动物的基因组中发现了不太确定但相似的图片。对侧翼序列的物理特征的进一步分析表明,哺乳动物基因组共有的一种未表征的复制机制令人惊讶地与DNA序列的物理不稳定性充分相关。

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