Graur Dan
Department of Biology and Biochemistry, University of Houston, TX.
Genome Biol Evol. 2017 Jul 1;9(7):1880-1885. doi: 10.1093/gbe/evx121.
For the human population to maintain a constant size from generation to generation, an increase in fertility must compensate for the reduction in the mean fitness of the population caused, among others, by deleterious mutations. The required increase in fertility due to this mutational load depends on the number of sites in the genome that are functional, the mutation rate, and the fraction of deleterious mutations among all mutations in functional regions. These dependencies and the fact that there exists a maximum tolerable replacement level fertility can be used to put an upper limit on the fraction of the human genome that can be functional. Mutational load considerations lead to the conclusion that the functional fraction within the human genome cannot exceed 25%, and is probably considerably lower.
为了使人类种群代代维持恒定规模，生育力的增加必须补偿种群平均适应度的降低，而这种降低尤其由有害突变导致。由于这种突变负荷而所需的生育力增加取决于基因组中起作用的位点数量、突变率以及功能区域所有突变中有害突变的比例。这些相关性以及存在一个最大可容忍的更替水平生育力这一事实，可用于对人类基因组中可能起作用的部分设定上限。对突变负荷的考量得出结论，人类基因组中的功能部分不能超过25%，而且可能远低于此。
