拷贝数变体和片段重复显示不同的形成特征
Copy Number Variants and Segmental Duplications Show Different Formation Signatures
摘要：
除了单核苷酸多态性（SNPs）方面的差异外，从几个碱基到一个碱基的整个区域在个体之间的拷贝数也不同。这些差异被称为拷贝数变异（CNVs），这些差异的广泛映射正在进行中。最近的研究强调了它们在人类基因组中的广泛存在。片段重复（SD）是具有高序列同一性的长（> 1 kb）重复DNA片段。首先，我们分析了SDs的共定位，发现SDs彼此显著共定位，导致幂律分布，这表明了一种优先附着机制，即现有的SDs很可能参与附近创建新的SDs。其次，我们研究了CNV/SD与各种类型重复序列的关系。我们发现，以前公认的协会的SD与铝元素是显着较强的老年SD和急剧下降的年轻的。虽然可以预期SD和CNV的模式应该是相似的，但令人惊讶的是，我们发现CNV与Alu元件没有关联。这一趋势与Alu元素与年轻SDs之间的相关性下降一致，Alu元素的活性一直在下降，现在它们似乎不再活跃。此外，我们发现了一个显着的关联SD与加工假基因，这表明他们也可能介导SD的形成。此外，发现SD和CNV与微卫星的强相关性，表明卫星在两者的形成中起作用。
英文摘要：
In addition to variation in terms of single nucleotide polymorphisms (SNPs), whole regions ranging from several kilobases up to a megabase in length differ in copy number among individuals. These differences are referred to as Copy Number Variants (CNVs) and extensive mapping of these is underway. Recent studies have highlighted their great prevalence in the human genome. Segmental Duplications (SDs) are long (>1kb) stretches of duplicated DNA with high sequence identity. First, we analyzed the co-localization of SDs and find that SDs are significantly co-localized with each other, resulting in a power-law distribution, which suggests a preferential attachment mechanism, i.e. existing SDs are likely to be involved in creating new ones nearby. Second, we look at the relationship of CNVs/SDs with various types of repeats. We we find that the previously recognized association of SDs with Alu elements is significantly stronger for older SDs and is sharply decreasing for younger ones. While it might be expected that the patterns should be similar for SDs and CNVs, we find, surprisingly, no association of CNVs with Alu elements. This trend is consistent with the decreasing correlation between Alu elements and younger SDs, the activity of Alu elements has been decreasing and by now it they seem no longer active. Furthermore, we find a striking association of SDs with processed pseudogenes suggesting that they may also have mediated SD formation. Moreover, find strong association with microsatellites for both SDs and CNVs that suggests a role for satellites in the formation of both.
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