Genome-wide deserts for copy number variation in vertebrates
Genome-wide deserts for copy number variation in vertebrates
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DOI：
10.1038/ncomms3283
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发表时间：
2013-08-01
影响因子：
16.6
通讯作者：
Kawata, Masakado
中科院分区：
文献类型：
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作者：
Makino, Takashi;McLysaght, Aoife;Kawata, Masakado
大多数拷贝数变异是中性的，但有些是有害的，并与各种人类疾病有关。拷贝数变异在脊椎动物基因组中是非随机分布的，最近有报道称，来自全基因组复制的复制基因ohnologs对拷贝数变异是抗性的。然而，目前还不清楚哪些基因组因素影响拷贝数变异的有害影响，拷贝数变异的偏倚基因组分布的生物学意义仍然知之甚少。在这里，我们表明，非ohnologs相邻ohnologs不太可能有拷贝数的变化，导致在脊椎动物基因组中的ohnologs丰富的区域是拷贝数变化沙漠。我们的研究结果表明，ohnologs的基因组位置是保留拷贝数变异的决定因素，并且剂量平衡的ohnologs可能会导致这些区域中拷贝数变异的有害影响。我们建议，调查拷贝数变异的基因的区域，通常是拷贝数变异沙漠是一种有效的手段来发现疾病相关的拷贝数变异。
Most copy number variations are neutral, but some are deleterious and associated with various human diseases. Copy number variations are distributed non-randomly in vertebrate genomes, and it was recently reported that ohnologs, which are duplicated genes derived from whole genome duplication, are refractory to copy number variations. However, it is unclear what genomic factors affect the deleterious effects of copy number variations and the biological significance of the biased genomic distribution of copy number variations remains poorly understood. Here we show that non-ohnologs neighbouring ohnologs are unlikely to have copy number variations, resulting in ohnolog-rich regions in vertebrate genomes being copy number variation deserts. Our results suggest that the genomic location of ohnologs is a determining factor in the retention of copy number variations and that the dosage-balanced ohnologs are likely to cause the deleterious effects of copy number variations in these regions. We propose that investigating copy number variation of genes in regions that are typically copy number variation deserts is an efficient means to find disease-related copy number variations.