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The use of museum specimens in conservation genomics
Stockholm University, Faculty of Science, Department of Zoology.ORCID iD: 0000-0002-1324-7489
2022 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

In the face of an increasing number of species being threatened by extinction, museum collections can constitute a powerful resource for acquiring genomic data of endangered taxa. By utilising datasets that combine genomes from present-day populations with those from historical timepoints, several questions relevant for conservation can be investigated. In this thesis, I made use of museum specimens by combining historical and modern genomes to shed light on the genomic status of four species of conservation concern. The thesis focuses on change in genome diversity, inbreeding, and mutational load, but also divergence and structure of extinct populations and present-day populations from which sampling is difficult. Since the 1920’s, the now extinct Sumatran rhinoceros (Dicerorhinus sumatrensis) population on the Malay Peninsula likely experienced genomic erosion (chapter I). Inbreeding increased almost four-fold, and was possibly accompanied by inbreeding depression causing premature deaths and/or lowered reproductive success. Mutational load was higher in the only two remaining populations on Borneo and Sumatra, but as genomic diversity was also relatively high, a large portion of the species’ evolutionary potential might be retained if population sizes can recover quickly. The extinct New Zealand mainland kākāpō (Strigops habroptilus) population comprised higher genomic diversity and lower inbreeding, but higher mutational load, compared to the only extant population on Stewart Island (chapter II). Demographic reconstruction revealed a continuous population decline on Stewart Island since the population split between the mainland and Stewart Island populations around 10,000 years ago, and simulations demonstrated that this could have facilitated a higher efficacy of purifying selection on Stewart Island. While the arctic fox (Vulpes lagopus) is of least concern worldwide, the peripheral Scandinavian population has been threatened by extinction since the early 1900’s. A substantial increase in inbreeding was found in all Scandinavian subpopulations, but was most pronounced in southern Scandinavia (chapter III). In spite of ongoing inbreeding in the past century, genomic diversity remained stable in central and northern Scandinavia, possibly owing to post-bottleneck gene flow from Russia. The population bottleneck of a single breeding pair in the Chatham Island black robin (Petroica traversi) caused a four-fold increase in inbreeding and halved genomic diversity, but caused only minor changes in mutational load (chapter IV). In the light of population history, this suggests that prolonged periods of small population size have facilitated possibilities for purging of genetic load already prior to the historical decline. Overall, this thesis highlights not only the extensive genomic impact that anthropogenic-driven declines have had on genomic diversity of endangered animals, but also that the effect on mutational load varies between taxa.

Place, publisher, year, edition, pages
Stockholm: Department of Zoology, Stockholm university , 2022. , p. 41
Keywords [en]
conservation genomics, museum specimens, genomic erosion, diversity, inbreeding, mutational load, genetic drift, purging, population divergence, local extinction, population decline, Sumatran rhinoceros, kakapo, arctic fox, Chatham Island black robin
National Category
Biological Sciences
Research subject
Systematic Zoology
Identifiers
URN: urn:nbn:se:su:diva-210372ISBN: 978-91-8014-056-0 (print)ISBN: 978-91-8014-057-7 (electronic)OAI: oai:DiVA.org:su-210372DiVA, id: diva2:1702889
Public defence
2022-11-25, Vivi Täckholmsalen (Q-salen), NPQ-huset, Svante Arrhenius väg 20, Stockholm, 13:00 (English)
Opponent
Supervisors
Available from: 2022-11-01 Created: 2022-10-11 Last updated: 2022-10-25Bibliographically approved
List of papers
1. Genomic insights into the conservation status of the world's last remaining Sumatran rhinoceros populations
Open this publication in new window or tab >>Genomic insights into the conservation status of the world's last remaining Sumatran rhinoceros populations
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2021 (English)In: Nature Communications, E-ISSN 2041-1723, Vol. 12, no 1, article id 2393Article in journal (Refereed) Published
Abstract [en]

Highly endangered species like the Sumatran rhinoceros are at risk from inbreeding. Five historical and 16 modern genomes from across the species range show mutational load, but little evidence for local adaptation, suggesting that future inbreeding depression could be mitigated by assisted gene flow among populations. Small populations are often exposed to high inbreeding and mutational load that can increase the risk of extinction. The Sumatran rhinoceros was widespread in Southeast Asia, but is now restricted to small and isolated populations on Sumatra and Borneo, and most likely extinct on the Malay Peninsula. Here, we analyse 5 historical and 16 modern genomes from these populations to investigate the genomic consequences of the recent decline, such as increased inbreeding and mutational load. We find that the Malay Peninsula population experienced increased inbreeding shortly before extirpation, which possibly was accompanied by purging. The populations on Sumatra and Borneo instead show low inbreeding, but high mutational load. The currently small population sizes may thus in the near future lead to inbreeding depression. Moreover, we find little evidence for differences in local adaptation among populations, suggesting that future inbreeding depression could potentially be mitigated by assisted gene flow among populations.

National Category
Biological Sciences
Identifiers
urn:nbn:se:su:diva-193711 (URN)10.1038/s41467-021-22386-8 (DOI)000643716500001 ()33896938 (PubMedID)
Available from: 2021-06-10 Created: 2021-06-10 Last updated: 2023-03-28Bibliographically approved
2. Population genomics of the critically endangered kākāpō
Open this publication in new window or tab >>Population genomics of the critically endangered kākāpō
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2021 (English)In: Cell Genomics, E-ISSN 2666-979X, Vol. 1, no 1, article id 100002Article in journal (Refereed) Published
Abstract [en]

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.

National Category
Biological Sciences
Identifiers
urn:nbn:se:su:diva-210367 (URN)10.1016/j.xgen.2021.100002 (DOI)
Available from: 2022-10-11 Created: 2022-10-11 Last updated: 2024-01-08Bibliographically approved
3. Temporal genomic change in the Scandinavian arctic fox (Vulpes lagopus)
Open this publication in new window or tab >>Temporal genomic change in the Scandinavian arctic fox (Vulpes lagopus)
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(English)Manuscript (preprint) (Other academic)
National Category
Natural Sciences
Identifiers
urn:nbn:se:su:diva-210370 (URN)
Available from: 2022-10-11 Created: 2022-10-11 Last updated: 2022-10-12Bibliographically approved
4. Genomic trajectories of a near-extinction event in the Chatham Island black robin
Open this publication in new window or tab >>Genomic trajectories of a near-extinction event in the Chatham Island black robin
Show others...
(English)Manuscript (preprint) (Other academic)
National Category
Natural Sciences
Identifiers
urn:nbn:se:su:diva-210371 (URN)
Available from: 2022-10-11 Created: 2022-10-11 Last updated: 2022-10-11

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