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A characterization of postzygotic mutations identified in monozygotic twins

机译：单脆性双胞胎中鉴定的突出性突变的表征

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Abstract Postzygotic mutations are DNA changes acquired from the zygote stage onwards throughout the lifespan. These changes lead to differences in DNA sequence among cells of an individual, potentially contributing to the etiology of complex disorders. Here we compared whole genome DNA sequence data of two monozygotic twin pairs, 40 and 100 years old, to detect somatic mosaicism. DNA samples were sequenced twice on two Illumina platforms (13X and 40X read depth) for increased specificity. Using differences in allelic ratios resulted in sets of 1,720 and 1,739 putative postzygotic mutations in the 40‐year‐old twin pair and 100‐year‐old twin pair, respectively, for subsequent enrichment analysis. This set of putative mutations was strongly ( p ??4.37e–91) enriched in both twin pairs for regulatory elements. The corresponding genes were significantly enriched for genes that are alternatively spliced, and for genes involved in GTPase activity. This research shows that somatic mosaicism can be detected in monozygotic twin pairs by using allelic ratios calculated from DNA sequence data and that the mutations which are found by this approach are not randomly distributed throughout the genome.
机译：摘要突出性突变是在整个寿命的Zygote阶段获得的DNA变化。这些变化导致个人细胞中DNA序列的差异，可能导致复杂疾病的病因。在这里，我们将两种单吞咽双对，40岁和100岁的全部基因组DNA序列数据进行了比较，以检测体细胞镶嵌。在两个Illumina平台（13x和40倍读取深度）上对DNA样品进行两次测序，以增加特异性。在40岁的双对和100岁双对中，使用等位基因比率的差异为1,720和1,739次推定的胸腔突变，分别用于随后的富集分析。这组推定的突变强烈（p≤x≤4.37e-91）富集两对调节元素。对于替代的基因，显着富集相应的基因，以及参与GTP酶活性的基因。该研究表明，通过使用从DNA序列数据计算的等位基比率，可以在单卵双对中检测体细胞果皮，并且通过这种方法发现的突变不随机分布在整个基因组中。

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