Divergence between the Human and Chimpanzee Genomes and its Impact on Protein and Transcriptome Evolution

Abstract

Comparison of the human and chimpanzee genome has revealed a broad spectrum of genetic differences. Although the nucleotide sequence divergence is low (approximately 1%) within those regions that can be aligned, lineage‐specific submicroscopic inversions, insertions and deletions have markedly increased the genetic divergence. The lineage‐specific expansion of gene families, instances of gene inactivation and loss, the accelerated evolution of genes and changes in gene expression may all have been involved in the evolutionary emergence of human‐specific traits. However, it is difficult to distinguish the neutral from the functionally meaningful changes that have occurred in both primate genomes since divergence from their common ancestor.

Keywords: human genome evolution; chimpanzee versus human genome comparisons; nucleotide divergence; insertions; duplications; deletions

Figure 1.

Proportion of human‐specific insertions in the size range 1 bp–15 kb (according to Mikkelsen et al., ).

Figure 2.

Number of human‐specific small indels (⩽100 bp) in genic and intergenic regions as determined by comparing human, chimpanzee, mouse, rat and dog genome alignments (according to Chen et al., ).

Figure 3.

Number of human‐specific insertions of >15 kb (according to Mikkelsen et al., ).

Figure 4.

Number of lineage‐specific gene gains in different primate species as determined by cDNA array CGH (according to Dumas et al., ). The estimated time range of the separation of the respective evolutionary lineage from the common ancestor of all primates is indicated in MYA (million years ago).

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Kehrer‐Sawatzki, Hildegard, and Cooper, David N(Apr 2008) Divergence between the Human and Chimpanzee Genomes and its Impact on Protein and Transcriptome Evolution. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0006115.pub2]