Department of Biology, Reed College, Portland, Oregon, United States of America.
Department of Computer Science, Arkansas State University, Jonesboro, Arkansas, United States of America.
PLoS Genet. 2021 Nov 1;17(11):e1009827. doi: 10.1371/journal.pgen.1009827. eCollection 2021 Nov.
Transposable elements (TEs) represent a major portion of most eukaryotic genomes, yet little is known about their mutation rates or how their activity is shaped by other evolutionary forces. Here, we compare short- and long-term patterns of genome-wide mutation accumulation (MA) of TEs among 9 genotypes from three populations of Daphnia magna from across a latitudinal gradient. While the overall proportion of the genome comprised of TEs is highly similar among genotypes from Finland, Germany, and Israel, populations are distinguishable based on patterns of insertion site polymorphism. Our direct rate estimates indicate TE movement is highly variable (net rates ranging from -11.98 to 12.79 x 10-5 per copy per generation among genotypes), differing both among populations and TE families. Although gains outnumber losses when selection is minimized, both types of events appear to be highly deleterious based on their low frequency in control lines where propagation is not limited to random, single-progeny descent. With rate estimates 4 orders of magnitude higher than base substitutions, TEs clearly represent a highly mutagenic force in the genome. Quantifying patterns of intra- and interspecific variation in TE mobility with and without selection provides insight into a powerful mechanism generating genetic variation in the genome.
转座元件 (TEs) 代表了大多数真核生物基因组的主要部分,但人们对它们的突变率知之甚少,也不知道它们的活性是如何被其他进化力量塑造的。在这里,我们比较了来自跨越纬度梯度的三个地点的三个 Daphnia magna 种群的 9 种基因型之间的全基因组突变积累 (MA) 的短期和长期模式。尽管来自芬兰、德国和以色列的基因型之间的基因组中 TEs 的总体比例非常相似,但基于插入位点多态性的模式,种群是可区分的。我们的直接速率估计表明 TE 运动具有高度的可变性(基因型之间的净速率在每代每拷贝的-11.98 到 12.79 x 10-5 之间变化),这在种群和 TE 家族之间都有所不同。尽管在选择最小化时,增益的数量超过了损失,但这两种类型的事件似乎都具有高度的有害性,因为它们在不受限制于随机、单后代的繁殖的对照系中频率较低。由于 TE 的速率估计比碱基替换高出 4 个数量级,因此它们显然代表了基因组中一种高度致突变的力量。定量分析有选择和无选择情况下 TE 迁移的种内和种间变异模式,为理解在基因组中产生遗传变异的强大机制提供了线索。