Department of Evolution, Ecology, and Organismal Biology, The Ohio State University, Columbus, OH 48824.
Ohio Biodiversity Conservation Partnership, The Ohio State University, Columbus, OH 43210.
Proc Natl Acad Sci U S A. 2023 Oct 24;120(43):e2303043120. doi: 10.1073/pnas.2303043120. Epub 2023 Oct 16.
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 () 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.
理论预测,濒危物种的小而孤立的种群中的遗传侵蚀可以通过中性遗传变异的估计来评估,然而,这种广泛使用的方法在基因组学时代最近受到了质疑。在这里,我们利用濒危响尾蛇的染色体水平基因组组装()和全基因组重测序数据(N = 110 个个体),评估了在历史和未来时间尺度上全基因组中性和功能多样性之间的关系。正如预测的那样,我们发现全基因组中性遗传多样性(π)的估计值与适应性变异的推断水平以及近亲繁殖突变负荷的估计值之间存在正相关,而中性多样性与漂移突变负荷的估计值之间存在负相关。然而,基于当代有效种群大小预测的未来中性多样性水平的这些相关性减半。总的来说,我们的结果证实,中性遗传多样性的估计值为受威胁脊椎动物种群的遗传侵蚀提供了一个准确的衡量标准。它们还为中性-功能多样性争议提供了细微差别,表明虽然存在这些相关性,但人类活动的影响可能在最近和未来削弱了这些关联。