通过基因组三角测量法检测到的人类特异性基因组结构变化。

Human-specific changes of genome structure detected by genomic triangulation.

作者信息

Harris R A, Rogers J, Milosavljevic A

机构信息

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

出版信息

Science. 2007 Apr 13;316(5822):235-7. doi: 10.1126/science.1139477.

Abstract

Knowledge of the rhesus macaque genome sequence enables reconstruction of the ancestral state of the human genome before the divergence of chimpanzees. However, the draft quality of nonhuman primate genome assemblies challenges the ability of current methods to detect insertions, deletions, and copy-number variations between humans, chimpanzees, and rhesus macaques and hinders the identification of evolutionary changes between these species. Because of the abundance of segmental duplications, genome comparisons require the integration of genomic assemblies and data from large-insert clones, linkage maps, and radiation hybrid maps. With genomic triangulation, an integrative method that reconstructs ancestral states and the structural evolution of genomes, we identified 130 human-specific breakpoints in genome structure due to rearrangements at an intermediate scale (10 kilobases to 4 megabases), including 64 insertions affecting 58 genes. Comparison with a human structural polymorphism database indicates that many of the rearrangements are polymorphic.

摘要

恒河猴基因组序列的知识使得在黑猩猩分化之前重建人类基因组的祖先状态成为可能。然而,非人类灵长类动物基因组组装的草图质量对当前方法检测人类、黑猩猩和恒河猴之间的插入、缺失和拷贝数变异的能力提出了挑战,并阻碍了这些物种之间进化变化的识别。由于片段重复丰富,基因组比较需要整合基因组组装以及来自大插入片段克隆、连锁图谱和辐射杂种图谱的数据。通过基因组三角剖分这一重建祖先状态和基因组结构进化的综合方法,我们在中等规模(10千碱基到4兆碱基)的重排中确定了130个基因组结构中的人类特异性断点,其中包括影响58个基因的64个插入。与人类结构多态性数据库的比较表明,许多重排是多态性的。

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