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Strongly deleterious mutations are a primary determinant of extinction risk due to inbreeding depression

机译：由于近亲繁殖抑郁症强烈有害的突变是灭绝风险的主要决定因素

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Human‐driven habitat fragmentation and loss have led to a proliferation of small and isolated plant and animal populations with high risk of extinction. One of the main threats to extinction in these populations is inbreeding depression, which is primarily caused by recessive deleterious mutations becoming homozygous due to inbreeding. The typical approach for managing these populations is to maintain high genetic diversity, increasingly by translocating individuals from large populations to initiate a “genetic rescue.” However, the limitations of this approach have recently been highlighted by the demise of the gray wolf population on Isle Royale, which declined to the brink of extinction soon after the arrival of a migrant from the large mainland wolf population. Here, we use a novel population genetic simulation framework to investigate the role of genetic diversity, deleterious variation, and demographic history in mediating extinction risk due to inbreeding depression in small populations. We show that, under realistic models of dominance, large populations harbor high levels of recessive strongly deleterious variation due to these mutations being hidden from selection in the heterozygous state. As a result, when large populations contract, they experience a substantially elevated risk of extinction after these strongly deleterious mutations are exposed by inbreeding. Moreover, we demonstrate that, although genetic rescue is broadly effective as a means to reduce extinction risk, its effectiveness can be greatly increased by drawing migrants from small or moderate‐sized source populations rather than large source populations due to smaller populations harboring lower levels of recessive strongly deleterious variation. Our findings challenge the traditional conservation paradigm that focuses on maximizing genetic diversity in small populations in favor of a view that emphasizes minimizing strongly deleterious variation. These insights have important implications for managing small and isolated populations in the increasingly fragmented landscape of the Anthropocene.
机译：人类驱动的栖息地破碎和损失导致小型和孤立的植物和动物种群的扩散，具有高风险灭绝的风险。这些人群中灭绝的主要威胁之一是近期繁殖的抑郁症，其主要由隐性有害突变引起的，因为近亲繁殖是纯合的。管理这些人群的典型方法是通过将来自大群体的个体搬出来保持高遗传多样性，以启动“遗传救援”。然而，最近突出了这种方法的局限性被伊斯勒·罗伊尔的灰狼人口的消亡，这在从大陆大陆狼群的移民到达后不久濒临灭绝的边缘。在这里，我们使用新颖的人口遗传模拟框架来调查遗传多样性，有害变化和人口统计史上在小群体中近溴的抑郁症的灭绝风险的作用。我们表明，在统治的拟理模式下，由于这些突变在杂合状态下隐藏起来，大人物港口港口高水平的隐性强烈有害变化。因此，当大型人群合同时，在通过近亲繁殖暴露这些强烈有害的突变之后，它们会经历大幅提高的灭绝风险。此外，我们证明，虽然遗传救援广泛有效地作为减少消失风险的手段，但由于较小的群体含有较低级别隐性强烈有害的变化。我们的调查结果挑战了传统的保护范式，专注于最大化小群体的遗传多样性，有利于强调最大限度地减少强烈有害变化的观点。这些见解对管理越来越多的人类景观中的小和分离群体具有重要意义。

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