大串联、高阶重复和规则分散的重复单元对人类和黑猩猩Y染色体的差异有很大贡献
Large Tandem, Higher Order Repeats and Regularly Dispersed Repeat Units Contribute Substantially to Divergence Between Human and Chimpanzee Y Chromosomes
摘要：
人类和黑猩猩基因组的比较受到了广泛的关注，因为这对于理解将我们与我们最近的亲属区分开来的进化步骤至关重要。为了有助于深入了解Y染色体的进化历史，我们研究和比较串联，高阶重复序列（HORs），并定期分散重复在人类和黑猩猩Y染色体重叠群，使用强大的全球重复地图算法。我们发现了一种新型的长程加速度，人类加速HOR区域。在35聚体人α-HORs的外周域中，我们发现了具有10个额外重复单体的千疮百孔的特征。在黑猩猩中，我们鉴定出30聚体α-HOR。我们构建alphoid HOR方案显示显着的人类-黑猩猩的差异，揭示人类-黑猩猩分离后的快速进化。我们鉴定并分析了20多个大重复单位，其中大部分是首次报道的：黑猩猩和人类的~ 1.6kb的3聚体二级重复单位（SRU）和~ 23.5kb的三级重复单位（~0.55 kb一级重复单位，PRU）;人10848、15775、20309、60910和72140 bp PRU;人3 mer SRU 4kb PRU）; 715聚体和1123聚体SRU（5聚体PRU）;黑猩猩5096、10762、10853、60523 bp PRU;和黑猩猩64624 bp SRU（10853 bp PRU）。我们发现，人类与黑猩猩之间的差异主要集中在大的重复序列结构上，差异高达~70%，大大超过了以前对某些选定的非编码序列的数值估计。涂抹在整个测序组装（25 Mb）上，这给出了约14%的人类-黑猩猩分歧。这是人类和黑猩猩之间差异的估计值明显高于以前的估计值。
英文摘要：
Comparison of human and chimpanzee genomes has received much attention, because of paramount role for understanding evolutionary step distinguishing us from our closest living relative. In order to contribute to insight into Y chromosome evolutionary history, we study and compare tandems, higher order repeats (HORs), and regularly dispersed repeats in human and chimpanzee Y chromosome contigs, using robust Global Repeat Map algorithm. We find a new type of long-range acceleration, human-accelerated HOR regions. In peripheral domains of 35mer human alphoid HORs, we find riddled features with ten additional repeat monomers. In chimpanzee, we identify 30mer alphoid HOR. We construct alphoid HOR schemes showing significant human-chimpanzee difference, revealing rapid evolution after human-chimpanzee separation. We identify and analyze over 20 large repeat units, most of them reported here for the first time as: chimpanzee and human ~1.6 kb 3mer secondary repeat unit (SRU) and ~23.5 kb tertiary repeat unit (~0.55 kb primary repeat unit, PRU); human 10848, 15775, 20309, 60910, and 72140 bp PRUs; human 3mer SRU (~2.4 kb PRU); 715mer and 1123mer SRUs (5mer PRU); chimpanzee 5096, 10762, 10853, 60523 bp PRUs; and chimpanzee 64624 bp SRU (10853 bp PRU). We show that substantial human-chimpanzee differences are concentrated in large repeat structures, at the level of as much as ~70% divergence, sizably exceeding previous numerical estimates for some selected noncoding sequences. Smeared over the whole sequenced assembly (25 Mb) this gives ~14% human--chimpanzee divergence. This is significantly higher estimate of divergence between human and chimpanzee than previous estimates.
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