Dorus Steve, Vallender Eric J, Evans Patrick D, Anderson Jeffrey R, Gilbert Sandra L, Mahowald Michael, Wyckoff Gerald J, Malcom Christine M, Lahn Bruce T
Howard Hughes Medical Institute, Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA.
Cell. 2004 Dec 29;119(7):1027-40. doi: 10.1016/j.cell.2004.11.040.
Human evolution is characterized by a dramatic increase in brain size and complexity. To probe its genetic basis, we examined the evolution of genes involved in diverse aspects of nervous system biology. We found that these genes display significantly higher rates of protein evolution in primates than in rodents. Importantly, this trend is most pronounced for the subset of genes implicated in nervous system development. Moreover, within primates, the acceleration of protein evolution is most prominent in the lineage leading from ancestral primates to humans. Thus, the remarkable phenotypic evolution of the human nervous system has a salient molecular correlate, i.e., accelerated evolution of the underlying genes, particularly those linked to nervous system development. In addition to uncovering broad evolutionary trends, our study also identified many candidate genes--most of which are implicated in regulating brain size and behavior--that might have played important roles in the evolution of the human brain.
人类进化的特点是大脑尺寸和复杂性急剧增加。为探究其遗传基础，我们研究了参与神经系统生物学各个方面的基因的进化。我们发现，与啮齿动物相比，这些基因在灵长类动物中的蛋白质进化速率显著更高。重要的是，这种趋势在与神经系统发育相关的基因子集中最为明显。此外，在灵长类动物中，蛋白质进化的加速在从原始灵长类动物到人类的谱系中最为显著。因此，人类神经系统显著的表型进化有一个显著的分子关联，即基础基因的加速进化，特别是那些与神经系统发育相关的基因。除了揭示广泛的进化趋势外，我们的研究还鉴定出许多候选基因——其中大多数与调节大脑尺寸和行为有关——它们可能在人类大脑的进化中发挥了重要作用。
