Reference genome resources associated with the project: Functional genetic diversity is correlated with intensity of genetic drift in populations of an endangered rattlesnake

Theory predicts that genetic erosion in small, isolated populations of endangered species can be assessed using estimates of neutral genetic variation reflecting long-term impacts of genetic drift, yet this widely used approach has been questioned in the genomics era. Here we leverage a chromosome-level assembly and whole genome resequencing data (N=110 individuals) from an endangered rattlesnake (Sistrurus catenatus) to evaluate the relationship between genome-wide neutral and functional diversity over long- and short-term timescales. As predicted for populations at long-term equilibrium, we found a positive correlation between population-level estimates of neutral genetic diversity (π) and the mean number of highly detrimental loss-of-function mutations, and a negative relationship between neutral genetic diversity and an estimate of genetic load. In contrast, we found only a weak, non-significant positive correlation between levels of neutral and adaptive variation. Additional analys..., ,理论预测，濒危物种小型隔离种群的遗传侵蚀可通过反映遗传漂变（genetic drift）长期影响的中性遗传变异（neutral genetic variation）估计值进行评估，但这一广泛应用的方法在基因组学（genomics）时代受到了质疑。本研究利用濒危响尾蛇（Sistrurus catenatus）的染色体级基因组组装（chromosome-level assembly）数据与全基因组重测序（whole genome resequencing）数据（样本量N=110），探究长期与短期时间尺度下全基因组中性多样性与功能多样性之间的关联。正如长期平衡种群的理论预期，本研究发现群体水平的中性遗传多样性估计值（核苷酸多样性π）与高度有害的功能丧失型突变的平均数量呈正相关，而中性遗传多样性与遗传负荷（genetic load）估计值呈负相关。与之相反，中性变异与适应性变异（adaptive variation）水平之间仅存在微弱且无统计学显著性的正相关关系。此外，本研究还开展了额外分析……