Abstract

BackgroundGenomic studies of endangered species provide insights into their evolution and demographic history, reveal patterns of genomic erosion that might limit their viability, and offer tools for their effective conservation. The Iberian lynx (Lynx pardinus) is the most endangered felid and a unique example of a species on the brink of extinction.ResultsWe generate the first annotated draft of the Iberian lynx genome and carry out genome-based analyses of lynx demography, evolution, and population genetics. We identify a series of severe population bottlenecks in the history of the Iberian lynx that predate its known demographic decline during the 20th century and have greatly impacted its genome evolution. We observe drastically reduced rates of weak-to-strong substitutions associated with GC-biased gene conversion and increased rates of fixation of transposable elements. We also find multiple signatures of genetic erosion in the two remnant Iberian lynx populations, including a high frequency of potentially deleterious variants and substitutions, as well as the lowest genome-wide genetic diversity reported so far in any species.ConclusionsThe genomic features observed in the Iberian lynx genome may hamper short- and long-term viability through reduced fitness and adaptive potential. The knowledge and resources developed in this study will boost the research on felid evolution and conservation genomics and will benefit the ongoing conservation and management of this emblematic species.Electronic supplementary materialThe online version of this article (doi:10.1186/s13059-016-1090-1) contains supplementary material, which is available to authorized users.

Highlights

  • Genomic studies of endangered species provide insights into their evolution and demographic history, reveal patterns of genomic erosion that might limit their viability, and offer tools for their effective conservation

  • We found two genes involved in hearing—CACNA1D (LYPA23A015140P1) and MYO1F (LYPA23A022113P1)—and two genes related to vision—OPTC (LYPA23A008195P1) and GUCY2F (LYPA23A015393P1) [34]—among those with signatures of positive selection in the lynx lineage

  • Such demography has shaped the patterns of nucleotide substitution and increased the fixation rate of transposable elements, whereas the predominance of genetic drift and the concomitant decrease in the efficiency of purifying selection have resulted in extremely low levels of genetic diversity and a high genetic load, indicating a severe level of genomic erosion in Iberian lynx

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Summary

Introduction

Genomic studies of endangered species provide insights into their evolution and demographic history, reveal patterns of genomic erosion that might limit their viability, and offer tools for their effective conservation. Genomic approaches are expected to improve our understanding of how the interaction between genetic drift, mutation, recombination, and natural selection shapes the genome of endangered populations and to contribute to a more effective conservation by facilitating the identification and subsequent management of deleterious variants. The fulfillment of these expectations requires, genomic studies in wellcharacterized and actively managed endangered species to serve as models [5]

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