Venn Oliver, Turner Isaac, Mathieson Iain, de Groot Natasja, Bontrop Ronald, McVean Gil
Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford, OX3 7BN, UK.
Biomedical Primate Research Centre, Lange Kleiweg 161, 2288 GJ Rijswijk, Netherlands.
Science. 2014 Jun 13;344(6189):1272-5. doi: 10.1126/science.344.6189.1272. Epub 2014 Jun 12.
Germline mutation determines rates of molecular evolution, genetic diversity, and fitness load. In humans, the average point mutation rate is 1.2 × 10(-8) per base pair per generation, with every additional year of father's age contributing two mutations across the genome and males contributing three to four times as many mutations as females. To assess whether such patterns are shared with our closest living relatives, we sequenced the genomes of a nine-member pedigree of Western chimpanzees, Pan troglodytes verus. Our results indicate a mutation rate of 1.2 × 10(-8) per base pair per generation, but a male contribution seven to eight times that of females and a paternal age effect of three mutations per year of father's age. Thus, mutation rates and patterns differ between closely related species.
种系突变决定分子进化速率、遗传多样性和适合度负荷。在人类中，平均点突变率为每代每碱基对1.2×10⁻⁸，父亲年龄每增加一岁，全基因组就会多两个突变，男性贡献的突变数量是女性的三到四倍。为了评估这些模式是否与现存的近亲物种相同，我们对西部黑猩猩（Pan troglodytes verus）一个九代家系的基因组进行了测序。我们的结果表明，每代每碱基对的突变率为1.2×10⁻⁸，但男性贡献的突变数量是女性的七到八倍，且父亲年龄效应为父亲年龄每增加一岁产生三个突变。因此，亲缘关系相近的物种之间，突变率和模式存在差异。
