Population genomics of the critically endangered kākāpō.

bottleneck conservation inbreeding kākāpō mutational load purging

Journal

Cell genomics
ISSN: 2666-979X
Titre abrégé: Cell Genom
Pays: United States
ID NLM: 9918284260106676

Informations de publication

Date de publication:
13 Oct 2021
Historique:
received: 20 10 2020
revised: 23 04 2021
accepted: 22 06 2021
entrez: 13 2 2023
pubmed: 8 9 2021
medline: 8 9 2021
Statut: epublish

Résumé

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.

Identifiants

pubmed: 36777713
doi: 10.1016/j.xgen.2021.100002
pii: S2666-979X(21)00002-1
pmc: PMC9903828
doi:

Types de publication

Journal Article

Langues

eng

Pagination

100002

Informations de copyright

© 2021 The Author(s).

Déclaration de conflit d'intérêts

The authors declare no competing interests.

Références

Bioinformatics. 2010 Mar 1;26(5):589-95
pubmed: 20080505
Proc Natl Acad Sci U S A. 2008 Jun 3;105(22):7676-80
pubmed: 18523023
Nat Ecol Evol. 2020 Aug;4(8):1004-1006
pubmed: 32367032
Bioinformatics. 2012 Jan 15;28(2):298-9
pubmed: 22110245
Nucleic Acids Res. 2016 Jan 4;44(D1):D286-93
pubmed: 26582926
Proc Natl Acad Sci U S A. 1979 Oct;76(10):5269-73
pubmed: 291943
Nucleic Acids Res. 2010 Apr;38(6):e87
pubmed: 20028723
Curr Biol. 2019 Jan 21;29(2):340-349.e7
pubmed: 30639104
Mol Ecol. 2010 Mar;19 Suppl 1:277-84
pubmed: 20331786
Trends Genet. 2010 Apr;26(4):177-87
pubmed: 20227782
Mol Ecol Resour. 2019 Mar;19(2):552-566
pubmed: 30565882
Am J Hum Genet. 2007 Nov;81(5):1084-97
pubmed: 17924348
Mol Biol Evol. 2019 Mar 1;36(3):632-637
pubmed: 30517680
Bioinformatics. 2008 Mar 1;24(5):637-44
pubmed: 18218656
Genetics. 2017 Feb;205(2):787-801
pubmed: 27903613
Curr Biol. 2020 Oct 5;30(19):3871-3879.e7
pubmed: 32795436
Bioinformatics. 2012 Dec 15;28(24):3326-8
pubmed: 23060615
PLoS Comput Biol. 2010 Dec 02;6(12):e1001025
pubmed: 21152010
Mol Biol Evol. 2008 Nov;25(11):2409-19
pubmed: 18725384
Curr Biol. 2018 Nov 5;28(21):3487-3494.e4
pubmed: 30415705
Genome Res. 2010 Sep;20(9):1297-303
pubmed: 20644199
Bioinformatics. 2014 Aug 1;30(15):2114-20
pubmed: 24695404
Bioinformatics. 2016 Jan 15;32(2):292-4
pubmed: 26428292
Genetics. 2017 May;206(1):345-361
pubmed: 28249985
Nat Protoc. 2012 Mar 01;7(3):562-78
pubmed: 22383036
Nat Protoc. 2013 Aug;8(8):1551-66
pubmed: 23868073
Nucleic Acids Res. 2014 Jan;42(Database issue):D756-63
pubmed: 24259432
Cold Spring Harb Protoc. 2010 Jun;2010(6):pdb.prot5448
pubmed: 20516186
Nat Commun. 2020 Feb 21;11(1):1001
pubmed: 32081890
Mol Biol Evol. 1987 Jul;4(4):406-25
pubmed: 3447015
Sci Adv. 2019 May 29;5(5):eaau0757
pubmed: 31149628
Science. 2014 Dec 12;346(6215):1311-20
pubmed: 25504712
Nucleic Acids Res. 2012 Nov 1;40(20):e161
pubmed: 22848105
Methods Mol Biol. 2020;2090:147-166
pubmed: 31975167
Nucleic Acids Res. 2012 Jan;40(1):e3
pubmed: 22021376
Nature. 2021 Apr;592(7856):737-746
pubmed: 33911273
Nature. 2012 Nov 15;491(7424):444-8
pubmed: 23123857
Genes (Basel). 2018 Apr 19;9(4):
pubmed: 29671759
Am J Hum Genet. 2012 Aug 10;91(2):275-92
pubmed: 22883143
Mol Ecol. 2017 Oct;26(19):4990-5002
pubmed: 28614599
Science. 2014 Dec 12;346(6215):1320-31
pubmed: 25504713
Bioinformatics. 2011 May 1;27(9):1332-4
pubmed: 21398675
Mol Biol Evol. 2017 Jul 1;34(7):1812-1819
pubmed: 28387841
Mol Ecol Resour. 2010 May;10(3):564-7
pubmed: 21565059
Bioinformatics. 2013 Jul 01;29(13):1682-4
pubmed: 23613487
PLoS Genet. 2017 Mar 2;13(3):e1006601
pubmed: 28253255
Bioinformatics. 2011 Nov 1;27(21):2987-93
pubmed: 21903627
Science. 2015 Apr 10;348(6231):242-245
pubmed: 25859046
Bioinformatics. 2011 Aug 1;27(15):2156-8
pubmed: 21653522
Nat Commun. 2021 Apr 26;12(1):2393
pubmed: 33896938
Fly (Austin). 2012 Apr-Jun;6(2):80-92
pubmed: 22728672
BMC Bioinformatics. 2006 Feb 09;7:62
pubmed: 16469098
Genetics. 2000 Feb;154(2):931-42
pubmed: 10655242
Trends Ecol Evol. 2018 Mar;33(3):176-185
pubmed: 29289355
Trends Ecol Evol. 2019 Dec;34(12):1070-1079
pubmed: 31296345
Database (Oxford). 2016 Jun 23;2016:
pubmed: 27337980
Ann Anat. 2012 Jan 20;194(1):3-6
pubmed: 21514120
Am J Hum Genet. 2007 Sep;81(3):559-75
pubmed: 17701901
Genetics. 2013 Jun;194(2):301-26
pubmed: 23733848
Genome Biol. 2011;12(3):R22
pubmed: 21410973
Heredity (Edinb). 2017 Feb;118(2):177-185
pubmed: 27624114
Curr Biol. 2019 Jan 7;29(1):165-170.e6
pubmed: 30595519
PLoS One. 2014 Nov 19;9(11):e112963
pubmed: 25409509
Genome Res. 2009 Sep;19(9):1655-64
pubmed: 19648217
PLoS Genet. 2013 Oct;9(10):e1003905
pubmed: 24204310
Nature. 2013 Jul 25;499(7459):471-5
pubmed: 23823723
Bioinformatics. 2009 Aug 15;25(16):2078-9
pubmed: 19505943
J Hered. 2016;107(7):593-602
pubmed: 27694405
Conserv Genet. 2017 Aug;18(4):977-982
pubmed: 28966567
Curr Biol. 2015 May 18;25(10):1395-400
pubmed: 25913407
Bioinformatics. 2016 Mar 1;32(5):767-9
pubmed: 26559507
Bioinformatics. 2010 Mar 15;26(6):841-2
pubmed: 20110278
Nature. 2011 Jul 13;475(7357):493-6
pubmed: 21753753
Methods Mol Biol. 2012;840:197-228
pubmed: 22237537
Proc Biol Sci. 2010 Dec 7;277(1700):3677-84
pubmed: 20591862
BMC Bioinformatics. 2009 Dec 15;10:421
pubmed: 20003500

Auteurs

Nicolas Dussex (N)

Centre for Palaeogenetics, Svante Arrhenius väg 20C, 10691 Stockholm, Sweden.
Department of Bioinformatics and Genetics, Swedish Museum of Natural History, Box 50007, 10405 Stockholm, Sweden.
Department of Zoology, Stockholm University, 10691 Stockholm, Sweden.
Department of Anatomy, University of Otago, PO Box 913, Dunedin 9016, New Zealand.

Tom van der Valk (T)

Centre for Palaeogenetics, Svante Arrhenius väg 20C, 10691 Stockholm, Sweden.
Department of Bioinformatics and Genetics, Swedish Museum of Natural History, Box 50007, 10405 Stockholm, Sweden.

Hernán E Morales (HE)

Section for Evolutionary Genomics, GLOBE Institute, University of Copenhagen, Copenhagen, Denmark.

Christopher W Wheat (CW)

Department of Zoology, Stockholm University, 10691 Stockholm, Sweden.

David Díez-Del-Molino (D)

Centre for Palaeogenetics, Svante Arrhenius väg 20C, 10691 Stockholm, Sweden.
Department of Bioinformatics and Genetics, Swedish Museum of Natural History, Box 50007, 10405 Stockholm, Sweden.

Johanna von Seth (J)

Centre for Palaeogenetics, Svante Arrhenius väg 20C, 10691 Stockholm, Sweden.
Department of Bioinformatics and Genetics, Swedish Museum of Natural History, Box 50007, 10405 Stockholm, Sweden.
Department of Zoology, Stockholm University, 10691 Stockholm, Sweden.

Yasmin Foster (Y)

Department of Zoology, University of Otago, PO Box 56, Dunedin 9054, New Zealand.

Verena E Kutschera (VE)

Department of Biochemistry and Biophysics, National Bioinformatics Infrastructure Sweden, Science for Life Laboratory, Stockholm University, Box 1031, 17121 Solna, Sweden.

Katerina Guschanski (K)

Institute of Evolutionary Biology, School of Biological Sciences, University of Edinburgh, Edinburgh, UK.
Department of Ecology and Genetics, Animal Ecology, Uppsala University, 75236 Uppsala, Sweden.

Arang Rhie (A)

Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Adam M Phillippy (AM)

Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Jonas Korlach (J)

Pacific Biosciences, 1305 O'Brien Drive, Menlo Park, CA 94025, USA.

Kerstin Howe (K)

Wellcome Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.

William Chow (W)

Wellcome Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.

Sarah Pelan (S)

Wellcome Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.

Joanna D Mendes Damas (JD)

Department of Evolution and Ecology and the UC Davis Genome Center, 4321 Genome and Biomedical Sciences Facility, University of California Davis, Davis, CA 95616, USA.

Harris A Lewin (HA)

Department of Evolution and Ecology and the UC Davis Genome Center, 4321 Genome and Biomedical Sciences Facility, University of California Davis, Davis, CA 95616, USA.

Alex R Hastie (AR)

Bionano Genomics, 9540 Towne Centre Drive, San Diego, CA 92121, USA.

Giulio Formenti (G)

Vertebrate Genome Laboratory, The Rockefeller University, New York, NY 10065, USA.
Laboratory of Neurogenetics of Language, Box 54, The Rockefeller University, New York, NY 10065, USA.
Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA.

Olivier Fedrigo (O)

Vertebrate Genome Laboratory, The Rockefeller University, New York, NY 10065, USA.

Joseph Guhlin (J)

Genomics Aotearoa and Laboratory for Evolution and Development, Department of Biochemistry, University of Otago, PO Box 56, Dunedin 9016, New Zealand.

Thomas W R Harrop (TWR)

Genomics Aotearoa and Laboratory for Evolution and Development, Department of Biochemistry, University of Otago, PO Box 56, Dunedin 9016, New Zealand.

Marissa F Le Lec (MF)

Genomics Aotearoa and Laboratory for Evolution and Development, Department of Biochemistry, University of Otago, PO Box 56, Dunedin 9016, New Zealand.

Peter K Dearden (PK)

Genomics Aotearoa and Laboratory for Evolution and Development, Department of Biochemistry, University of Otago, PO Box 56, Dunedin 9016, New Zealand.

Leanne Haggerty (L)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK.

Fergal J Martin (FJ)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK.

Vamsi Kodali (V)

National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20894, USA.

Françoise Thibaud-Nissen (F)

National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20894, USA.

David Iorns (D)

The Genetic Rescue Foundation, Wellington, New Zealand.

Michael Knapp (M)

Department of Anatomy, University of Otago, PO Box 913, Dunedin 9016, New Zealand.

Neil J Gemmell (NJ)

Department of Anatomy, University of Otago, PO Box 913, Dunedin 9016, New Zealand.

Fiona Robertson (F)

Department of Zoology, University of Otago, PO Box 56, Dunedin 9054, New Zealand.

Ron Moorhouse (R)

Kākāpō Recovery, Department of Conservation, PO Box 743, Invercargill 9840, New Zealand.

Andrew Digby (A)

Kākāpō Recovery, Department of Conservation, PO Box 743, Invercargill 9840, New Zealand.

Daryl Eason (D)

Kākāpō Recovery, Department of Conservation, PO Box 743, Invercargill 9840, New Zealand.

Deidre Vercoe (D)

Kākāpō Recovery, Department of Conservation, PO Box 743, Invercargill 9840, New Zealand.

Jason Howard (J)

Vertebrate Genome Laboratory, The Rockefeller University, New York, NY 10065, USA.
BioSkryb Genomics, 701 W Main Street, Suite 200, Durham, NC 27701, USA.

Erich D Jarvis (ED)

Vertebrate Genome Laboratory, The Rockefeller University, New York, NY 10065, USA.
Laboratory of Neurogenetics of Language, Box 54, The Rockefeller University, New York, NY 10065, USA.
Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA.

Bruce C Robertson (BC)

Department of Zoology, University of Otago, PO Box 56, Dunedin 9054, New Zealand.

Love Dalén (L)

Centre for Palaeogenetics, Svante Arrhenius väg 20C, 10691 Stockholm, Sweden.
Department of Bioinformatics and Genetics, Swedish Museum of Natural History, Box 50007, 10405 Stockholm, Sweden.
Department of Zoology, Stockholm University, 10691 Stockholm, Sweden.

Classifications MeSH