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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Distribution of short paired duplications in mammalian genomes.
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Distribution of short paired duplications in mammalian genomes.

机译：短配对重复序列在哺乳动物基因组中的分布。

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摘要

Mammalian genomes are densely populated with long duplicated sequences. In this paper, we demonstrate the existence of doublets, short duplications between 25 and 100 bp, distinct from previously described repeats. Each doublet is a pair of exact matches, separated by some distance. The distribution of these intermatch distances is strikingly nonrandom. An unexpectedly high number of doublets have matches either within 100 bp (adjacent) or at distances tightly concentrated approximately 1,000 bp apart (nearby). We focus our study on these proximate doublets. First, they tend to have both matches on the same strand. By comparing nearby doublets shared in human and chimpanzee, we can also see that these doublets seem to arise by an insertion event that produces a copy without markedly affecting the surrounding sequence. Most doublets in humans are shared with chimpanzee, but many new pairs arose after the divergence of the species. Doublets found in human but not chimpanzee are most often composed of almost tandem matches, whereas older doublets (found in both species) are more likely to have matches spaced by approximately 1 kb, indicating that the nearly tandem doublets may be more dynamic. The spacing of doublets is highly conserved. So far, we have found clearly recognizable doublets in the following genomes: Homo sapiens, Mus musculus, Arabidopsis thaliana, and Caenorhabditis elegans, indicating that the mechanism generating these doublets is widespread. A mechanism that generates short local duplications while conserving polarity could have a profound impact on the evolution of regulatory and protein-coding sequences.
机译：哺乳动物基因组密集地长有重复的序列。在本文中，我们证明了25 bp和100 bp之间的重复片段，短重复片段的存在，与先前描述的重复片段不同。每个双胞胎都是一对精确的匹配，相隔一定距离。这些匹配距离的分布明显是非随机的。大量的双峰匹配在100 bp内（相邻）或在距离相近1,000 bp的距离内（附近）紧密匹配。我们将研究重点放在这些邻近的双峰上。首先，它们倾向于在同一链上同时具有两个匹配项。通过比较在人类和黑猩猩中共享的附近双峰，我们还可以看到这些双峰似乎是由插入事件产生的，该插入事件产生拷贝而不会显着影响周围序列。人类中的大多数双峰与黑猩猩共享，但是在物种分化之后出现了许多新的对。在人类而非黑猩猩中发现的双峰通常由几乎串联的配对组成，而较老的双峰（在两个物种中均发现）更可能以约1 kb的间隔隔开，这表明近串联的双峰可能更具动态性。双峰的间距是高度保守的。到目前为止，我们在以下基因组中发现了明显可识别的双峰：智人，小家鼠，拟南芥和秀丽隐杆线虫，表明产生这些双峰的机制是广泛的。在保持极性的同时产生短的局部重复的机制可能对调节序列和蛋白质编码序列的进化产生深远影响。

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