Differential Alu mobilization and polymorphism among the human and chimpanzee lineages
Differential Alu mobilization and polymorphism among the human and chimpanzee lineages
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DOI：
10.1101/gr.2530404
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发表时间：
2004-06-01
期刊：
影响因子：
7
通讯作者：
Batzer, MA
中科院分区：
文献类型：
--
作者：
Hedges, DJ;Callinan, PA;Batzer, MA
Alu 元件是 SINE（短散布元件）反座子家族的灵长类特异性成员，该家族占人类基因组的 -10%。在这里，我们报告了首次在人类和黑猩猩分化后检查 Alu 逆位动态的染色体水平比较。我们发现，与普通黑猩猩（Pan troglodytes）相比，人类的 Alu 插入量增加了一倍。与这些插入相关的基因组多样性（存在或不存在 Alu 插入的多态性）表明，与最近的核苷酸多样性研究类似，黑猩猩 Alu 多样性水平比人类高 -1.7 倍。进化上最近的 Alu 亚科结构在人类和黑猩猩谱系之间存在显着差异，主要的人类亚科在黑猩猩谱系中仍然基本上不活跃。我们提出了一个基于群体的模型来解释观察到的灵长类动物类群中 Alu 逆转率的波动。
Alu elements are primate-specific members of the SINE (short interspersed element) retroposon family, which comprise -10% of the human genome. Here we report the first chromosomal-level comparison examining the Alu retroposition dynamics following the divergence of humans and chimpanzees. We find a twofold increase in Alu insertions in humans in comparison to the common chimpanzee (Pan troglodytes). The genomic diversity (polymorphism for presence or absence of the Alu insertion) associated with these inserts indicates that, analogous to recent nucleotide diversity studies, the level of chimpanzee Alu diversity is -1.7 times higher than that of humans. Evolutionarily recent Alu subfamily structure differs markedly between the human and chimpanzee lineages, with the major human subfamilies remaining largely inactive in the chimpanzee lineage. We propose a population-based model to account for the observed fluctuation in Alu retroposition rates across primate taxa.