EXTREME GENOMIC EROSION AFTER RECURRENT DEMOGRAPHIC BOTTLENECKS IN THE HIGHLY ENDANGERED IBERIAN LYNX

Genomics studies of endangered species hold the promise of boosting our understanding of the genetic factors that hamper species persistence and of contributing to their conservation. However, whole genome analyses of well-characterized endangered species remain rare. Here we report the first annotated draft of the highly endangered Iberian lynx and the genome-based analyses of lynx demography, evolution and population genetics. The history of the Iberian lynx is marked by a relatively recent divergence from the Iberian lynx followed by long subsequent period of gene flow and a series of drastic population bottlenecks. Our analyses revealed multiple signatures of genetic erosion, including the lowest genome-wide genetic diversity reported so far in any organism and a high frequency of potentially deleterious mutations. The knowledge and resources developed, including a complete set of annotated markers and genomic libraries, can support current conservation and management of this emblematic species.

濒危物种基因组学研究，有望深化我们对阻碍物种存续的遗传因子的认知，并为其保护工作提供助力。然而，针对经过充分研究的濒危物种的全基因组分析仍然较为罕见。本研究首次发布了极度濒危的伊比利亚猞猁（Iberian lynx）的注释化基因组草图，并开展了基于该基因组的猞猁种群动态、演化及群体遗传学分析。伊比利亚猞猁的演化历史以与伊比利亚猞猁相对较晚的分化事件为标志，随后经历了长期的基因交流阶段与一系列剧烈的种群瓶颈事件。我们的分析揭示了多重遗传侵蚀特征，包括迄今所有已报道生物中最低的全基因组遗传多样性，以及高频率的潜在有害突变。本研究开发的相关知识与资源，包括一套完整的注释化遗传标记与基因组文库，可为这一标志性物种的现有保护与管理工作提供支撑。