Feng Chungang, Pettersson Mats, Lamichhaney Sangeet, Rubin Carl-Johan, Rafati Nima, Casini Michele, Folkvord Arild, Andersson Leif
Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
Department of Aquatic Resources, Institute of Marine Research, Swedish University of Agricultural Sciences, Lysekil, Sweden.
Elife. 2017 Jun 30;6:e23907. doi: 10.7554/eLife.23907.
The Atlantic herring is one of the most abundant vertebrates on earth but its nucleotide diversity is moderate (π = 0.3%), only three-fold higher than in human. Here, we present a pedigree-based estimation of the mutation rate in this species. Based on whole-genome sequencing of four parents and 12 offspring, the estimated mutation rate is 2.0 × 10 per base per generation. We observed a high degree of parental mosaicism indicating that a large fraction of these de novo mutations occurred during early germ cell development. The estimated mutation rate - the lowest among vertebrates analyzed to date - partially explains the discrepancy between the rather low nucleotide diversity in herring and its huge census population size. But a species like the herring will never reach its expected nucleotide diversity because of fluctuations in population size over the millions of years it takes to build up high nucleotide diversity.
大西洋鲱是地球上数量最为丰富的脊椎动物之一，但其核苷酸多样性处于中等水平（π = 0.3%），仅比人类高三倍。在此，我们展示了基于家系对该物种突变率的估计。基于对四个亲本和十二个后代的全基因组测序，估计的突变率为每代每碱基2.0×10 。我们观察到高度的亲本嵌合现象，这表明这些新生突变中有很大一部分发生在早期生殖细胞发育过程中。估计的突变率——是迄今为止分析的脊椎动物中最低的——部分解释了鲱鱼相对较低的核苷酸多样性与其庞大的普查种群规模之间的差异。但是像鲱鱼这样的物种永远无法达到其预期的核苷酸多样性，因为在积累高核苷酸多样性所需的数百万年时间里，种群规模会发生波动。
