1. Genome-wide signatures of complex introgression and adaptive evolution in the big cats
- Author
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Agostinho Antunes, Ronaldo Gonçalves Morato, Toni Gabaldón, Maíra R. Rodrigues, Eduardo Eizirik, Adauto Luis Veloso Nunes, Cristine Silveira Trinca, Gabriel Fernandes, Stephen J. O'Brien, Juliana G Assis, Ke Bi, Luiz Lehmann Coutinho, Leandro Silveira, Patricia Saragüeta, Tyler Linderoth, William J. Murphy, Guilherme Oliveira, Sarah Helen Dias dos Santos, Gang Li, Henrique V. Figueiró, Rasmus Nielsen, Fabiano Sviatopolk-Mirsky Pais, Aleksey Komissarov, Fernando Cesar Cascelli de Azevedo, Ricardo Augusto Brassaloti, Emiliano Esterci Ramalho, Fernanda J. Trindade, Priscilla Marqui Schmidt Villela, Rodrigo Hidalgo Friciello Teixeira, Emma C. Teeling, Daniel Luis Zanella Kantek, Graham M. Hughes, Damian Loska, Pontificial Catholic Univ Rio Grande Sul PUCRS, Texas A&M Univ, FIOCRUZ Minas, Univ Coll Dublin, St Petersburg State Univ, Univ Porto, Univ Calif Berkeley, Inst Onca Pintada, Univ Fed Sao Joao, Inst Pro Carnivoros, Inst Chico Mendes Conservacao Biodiversida, Inst Desenvolvimento Sustentavel Mamiraua, Universidade de São Paulo (USP), Zool Municipal Sorocaba, Universidade Estadual Paulista (Unesp), Ctr Genom Regulat CRG, Univ Pompeu Fabra, Inst Biol & Med Expt, ICREA, and Inst Tecnol Vale
- Subjects
0106 biological sciences ,0301 basic medicine ,PANTERAS ,genetic structures ,JAGUAR ,01 natural sciences ,Genome ,Coalescent theory ,purl.org/becyt/ford/1 [https] ,Research Articles ,Phylogeny ,Genetics ,Multidisciplinary ,biology ,SciAdv r-articles ,High-Throughput Nucleotide Sequencing ,Panthera onca ,Genomics ,Bioquímica y Biología Molecular ,Big cat ,Nm ,CIENCIAS NATURALES Y EXACTAS ,psychological phenomena and processes ,Biotechnology ,Research Article ,Introgression ,010603 evolutionary biology ,Ciencias Biológicas ,Evolution, Molecular ,03 medical and health sciences ,Genetic ,Phylogenetics ,biology.animal ,Animals ,Panthera ,Selection, Genetic ,purl.org/becyt/ford/1.6 [https] ,Selection ,Whole genome sequencing ,Evolutionary Biology ,PANTHERA ONCA ,Human Genome ,Molecular ,Computational Biology ,Genetic Variation ,Molecular Sequence Annotation ,GENOMICA ,EVOLUTION ,030104 developmental biology ,Generic health relevance ,Conservación de la Biodiversidad ,Genome-Wide Association Study - Abstract
Big cat genomes reveal a history of interspecies admixture and adaptive evolution of genes underlying development and sensory perception., The great cats of the genus Panthera comprise a recent radiation whose evolutionary history is poorly understood. Their rapid diversification poses challenges to resolving their phylogeny while offering opportunities to investigate the historical dynamics of adaptive divergence. We report the sequence, de novo assembly, and annotation of the jaguar (Panthera onca) genome, a novel genome sequence for the leopard (Panthera pardus), and comparative analyses encompassing all living Panthera species. Demographic reconstructions indicated that all of these species have experienced variable episodes of population decline during the Pleistocene, ultimately leading to small effective sizes in present-day genomes. We observed pervasive genealogical discordance across Panthera genomes, caused by both incomplete lineage sorting and complex patterns of historical interspecific hybridization. We identified multiple signatures of species-specific positive selection, affecting genes involved in craniofacial and limb development, protein metabolism, hypoxia, reproduction, pigmentation, and sensory perception. There was remarkable concordance in pathways enriched in genomic segments implicated in interspecies introgression and in positive selection, suggesting that these processes were connected. We tested this hypothesis by developing exome capture probes targeting ~19,000 Panthera genes and applying them to 30 wild-caught jaguars. We found at least two genes (DOCK3 and COL4A5, both related to optic nerve development) bearing significant signatures of interspecies introgression and within-species positive selection. These findings indicate that post-speciation admixture has contributed genetic material that facilitated the adaptive evolution of big cat lineages.
- Published
- 2017