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大片段串联重复、高次重复以及规则散布的重复单位导致了人类和黑猩猩 Y 染色体之间的显著差异。

Large tandem, higher order repeats and regularly dispersed repeat units contribute substantially to divergence between human and chimpanzee Y chromosomes.

机构信息

Faculty of Science, University of Zagreb, 10000, Zagreb, Croatia.

出版信息

J Mol Evol. 2011 Jan;72(1):34-55. doi: 10.1007/s00239-010-9401-8. Epub 2010 Nov 20.

Abstract

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.

摘要

人类和黑猩猩基因组的比较受到了广泛关注,因为它对于理解将我们与最接近的现存亲属区分开来的进化步骤至关重要。为了深入了解 Y 染色体的进化历史,我们使用稳健的全局重复图谱算法,研究和比较了人类和黑猩猩 Y 染色体连续序列中的串联、高级重复(HOR)和规则分散重复。我们发现了一种新的长程加速,即人类加速的 HOR 区域。在 35mer 人类α卫星 HOR 的外周结构域中,我们发现了带有十个额外重复单体的特征性重复。在黑猩猩中,我们鉴定出 30mer α卫星 HOR。我们构建了α卫星 HOR 图谱,显示了人类和黑猩猩之间的显著差异,揭示了人类和黑猩猩分离后的快速进化。我们鉴定和分析了 20 多个大的重复单元,其中大多数是首次报道:黑猩猩和人类的1.6kb 3mer 二级重复单元(SRU)和23.5kb 三级重复单元(0.55kb 初级重复单元,PRU);人类的 10848、15775、20309、60910 和 72140bp PRUs;人类的 3mer SRU(2.4kb PRU);715mer 和 1123mer SRUs(5mer PRU);黑猩猩的 5096、10762、10853、60523bp PRUs;以及黑猩猩的 64624bp SRU(10853bp PRU)。我们表明,人类和黑猩猩之间的大量差异集中在大的重复结构中,其差异程度高达70%,大大超过了之前对一些选定非编码序列的数值估计。在整个测序组装(25Mb)中,这给出了14%的人类和黑猩猩的差异。这是对人类和黑猩猩之间的分歧的一个显著更高的估计,超过了之前的估计。

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