Haygood Ralph, Fedrigo Olivier, Hanson Brian, Yokoyama Ken-Daigoro, Wray Gregory A
Biology Department, Duke University, Durham, North Carolina 27708, USA.
Nat Genet. 2007 Sep;39(9):1140-4. doi: 10.1038/ng2104. Epub 2007 Aug 12.
Surveys of protein-coding sequences for evidence of positive selection in humans or chimpanzees have flagged only a few genes known to function in neural or nutritional processes, despite pronounced differences between humans and chimpanzees in behavior, cognition and diet. It may be that most such differences are due to changes in gene regulation rather than protein structure. Here, we present the first survey of promoter (5'-flanking) regions, which are rich in cis-regulatory sequences, for evidence of positive selection in humans. Our results indicate that positive selection has targeted the regulation of many genes known to be involved in neural development and function, both in the brain and elsewhere in the nervous system, and in nutrition, particularly in glucose metabolism.
对人类或黑猩猩中正向选择证据的蛋白质编码序列调查仅标记了少数已知在神经或营养过程中起作用的基因，尽管人类和黑猩猩在行为、认知和饮食方面存在明显差异。可能大多数此类差异是由于基因调控的变化而非蛋白质结构的变化。在这里，我们首次对富含顺式调控序列的启动子（5'侧翼）区域进行调查，以寻找人类中正向选择的证据。我们的结果表明，正向选择针对的是许多已知参与神经发育和功能的基因的调控，这些基因在大脑和神经系统的其他部位以及营养方面，特别是在葡萄糖代谢中发挥作用。
