Population genomics of the critically endangered kākāpō

Nicolás Dussex(Centre for Palaeogenetics), Tom van der Valk(Swedish Museum of Natural History), Hernán E. Morales(University of Copenhagen), Christopher W. Wheat(Stockholm University), David Díez‐del‐Molino(Swedish Museum of Natural History), Johanna von Seth(Swedish Museum of Natural History), Yasmin Foster(University of Otago), Verena E. Kutschera(Science for Life Laboratory), Katerina Guschanski(University of Edinburgh), Arang Rhie(National Institutes of Health), Adam M. Phillippy(National Human Genome Research Institute), Jonas Korlach(Pacific Biosciences (United States)), Kerstin Howe(Wellcome Sanger Institute), William Chow(Wellcome Sanger Institute), Sarah Pelan(Wellcome Sanger Institute), Joanna D. Mendes Damas(University of California, Davis), Harris A. Lewin(University of California, Davis), Alex Hastie(BioNano Genomics (United States)), Giulio Formenti(Rockefeller University), Olivier Fédrigo(Rockefeller University), Joseph Guhlin(University of Otago), Thomas W.R. Harrop(University of Otago), Marissa F. Le Lec(University of Otago), Peter K. Dearden(University of Otago), Leanne Haggerty(European Bioinformatics Institute), Fergal J. Martin(European Bioinformatics Institute), Vamsi K. Kodali(National Institutes of Health), Françoise Thibaud‐Nissen(National Center for Biotechnology Information), David Iorns(Swedish Museum of Natural History), Michael Knapp(University of Otago), Neil J. Gemmell(University of Otago), Fiona Robertson(University of Otago), Ron J. Moorhouse, Andrew Digby, Daryl Eason, Deidre Vercoe, Jason T. Howard(Rockefeller University), Erich D. Jarvis(Rockefeller University), Bruce C. Robertson(University of Otago), Love Dalén(Swedish Museum of Natural History)
Cell Genomics
September 8, 2021
Cited by 238Open Access
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Abstract

The kākāpō is a flightless parrot endemic to New Zealand. Once common in the archipelago, only 201 individuals remain today, most of them descending from an isolated island population. We report the first genome-wide analyses of the species, including a high-quality genome assembly for kākāpō, one of the first chromosome-level reference genomes sequenced by the Vertebrate Genomes Project (VGP). We also sequenced and analyzed 35 modern genomes from the sole surviving island population and 14 genomes from the extinct mainland population. While theory suggests that such a small population is likely to have accumulated deleterious mutations through genetic drift, our analyses on the impact of the long-term small population size in kākāpō indicate that present-day island kākāpō have a reduced number of harmful mutations compared to mainland individuals. We hypothesize that this reduced mutational load is due to the island population having been subjected to a combination of genetic drift and purging of deleterious mutations, through increased inbreeding and purifying selection, since its isolation from the mainland ∼10,000 years ago. Our results provide evidence that small populations can survive even when isolated for hundreds of generations. This work provides key insights into kākāpō breeding and recovery and more generally into the application of genetic tools in conservation efforts for endangered species.


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