PDF(Pubmed)
Abstract：
Theory predicts that genetic erosion in small, isolated populations of endangered species can be assessed using estimates of neutral genetic variation, yet this widely used approach has recently been questioned in the genomics era. Here, we leverage a chromosome-level genome assembly of an endangered rattlesnake (Sistrurus catenatus) combined with whole genome resequencing data (N = 110 individuals) to evaluate the relationship between levels of genome-wide neutral and functional diversity over historical and future timescales. As predicted, we found positive correlations between genome-wide estimates of neutral genetic diversity (π) and inferred levels of adaptive variation and an estimate of inbreeding mutation load, and a negative relationship between neutral diversity and an estimate of drift mutation load. However, these correlations were half as strong for projected future levels of neutral diversity based on contemporary effective population sizes. Broadly, our results confirm that estimates of neutral genetic diversity provide an accurate measure of genetic erosion in populations of a threatened vertebrate. They also provide nuance to the neutral-functional diversity controversy by suggesting that while these correlations exist, anthropogenetic impacts may have weakened these associations in the recent past and into the future.
摘要：
理论预测，遗传侵蚀很小，可以使用中性遗传变异的估计来评估濒危物种的孤立种群，然而，这种广泛使用的方法最近在基因组学时代受到质疑。这里,我们利用濒危响尾蛇(Sistruruscatenatus)的染色体水平基因组组装结合全基因组重测序数据(N=110个个体),评估历史和未来时间尺度上全基因组中性和功能多样性水平之间的关系.正如预测的那样，我们发现中性遗传多样性（π）的全基因组估计与适应性变异的推断水平和近交突变负荷的估计之间存在正相关，以及中性多样性与漂移突变负荷估计之间的负相关关系。然而,对于基于当代有效人口规模的未来中性多样性预测水平，这些相关性只有一半。广义上,我们的结果证实，对中性遗传多样性的估计可以准确地测量受威胁脊椎动物种群的遗传侵蚀。他们还通过暗示尽管存在这些相关性，在最近的过去和未来，人为遗传的影响可能削弱了这些关联。
