Center for Molecular Medicine and Genetics, Department of Anatomy and Cell Biology, Wayne State University School of Medicine, Detroit, MI 48201, USA.
Proc Natl Acad Sci U S A. 2009 Dec 8;106(49):20824-9. doi: 10.1073/pnas.0911239106. Epub 2009 Nov 19.
Specific sets of brain-expressed genes, such as aerobic energy metabolism genes, evolved adaptively in the ancestry of humans and may have evolved adaptively in the ancestry of other large-brained mammals. The recent addition of genomes from two afrotherians (elephant and tenrec) to the expanding set of publically available sequenced mammalian genomes provided an opportunity to test this hypothesis. Elephants resemble humans by having large brains and long life spans; tenrecs, in contrast, have small brains and short life spans. Thus, we investigated whether the phylogenomic patterns of adaptive evolution are more similar between elephant and human than between either elephant and tenrec lineages or human and mouse lineages, and whether aerobic energy metabolism genes are especially well represented in the elephant and human patterns. Our analyses encompassed approximately 6,000 genes in each of these lineages with each gene yielding extensive coding sequence matches in interordinal comparisons. Each gene's nonsynonymous and synonymous nucleotide substitution rates and dN/dS ratios were determined. Then, from gene ontology information on genes with the higher dN/dS ratios, we identified the more prevalent sets of genes that belong to specific functional categories and that evolved adaptively. Elephant and human lineages showed much slower nucleotide substitution rates than tenrec and mouse lineages but more adaptively evolved genes. In correlation with absolute brain size and brain oxygen consumption being largest in elephants and next largest in humans, adaptively evolved aerobic energy metabolism genes were most evident in the elephant lineage and next most evident in the human lineage.
特定的一组大脑表达基因,如有氧能量代谢基因,在人类的祖先中适应性进化,并且可能在其他大型脑哺乳动物的祖先中适应性进化。最近,从两个非洲有胎盘动物(大象和针鼹)基因组添加到不断扩大的公共可用测序哺乳动物基因组集中,为测试这一假设提供了机会。大象与人类相似,具有大脑大、寿命长的特点;相比之下,针鼹具有大脑小、寿命短的特点。因此,我们调查了在进化上适应性进化的系统发育模式在大象和人类之间是否比大象和针鼹谱系或人类和老鼠谱系之间更相似,以及有氧能量代谢基因是否在大象和人类模式中特别有代表性。我们的分析涵盖了这些谱系中的每个谱系中的大约 6000 个基因,每个基因在种间比较中都有广泛的编码序列匹配。确定了每个基因的非同义核苷酸替换率和同义核苷酸替换率以及 dN/dS 比值。然后,根据具有较高 dN/dS 比值的基因的基因本体论信息,我们确定了属于特定功能类别的更常见的基因集,这些基因是适应性进化的。大象和人类谱系的核苷酸替换率比针鼹和老鼠谱系慢,但适应性进化的基因更多。与绝对大脑大小和大脑耗氧量在大象中最大,在人类中次之相关,有氧能量代谢基因在大象谱系中最明显,在人类谱系中次之。