41 results on '"Pečnerová, Patrícia"'
Search Results
2. Temporal dynamics of woolly mammoth genome erosion prior to extinction
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Dehasque, Marianne, Morales, Hernán E., Díez-del-Molino, David, Pečnerová, Patrícia, Chacón-Duque, J. Camilo, Kanellidou, Foteini, Muller, Héloïse, Plotnikov, Valerii, Protopopov, Albert, Tikhonov, Alexei, Nikolskiy, Pavel, Danilov, Gleb K., Giannì, Maddalena, van der Sluis, Laura, Higham, Tom, Heintzman, Peter D., Oskolkov, Nikolay, Gilbert, M. Thomas P., Götherström, Anders, van der Valk, Tom, Vartanyan, Sergey, and Dalén, Love
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- 2024
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3. Million-year-old DNA sheds light on the genomic history of mammoths
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van der Valk, Tom, Pečnerová, Patrícia, Díez-del-Molino, David, Bergström, Anders, Oppenheimer, Jonas, Hartmann, Stefanie, Xenikoudakis, Georgios, Thomas, Jessica A, Dehasque, Marianne, Sağlıcan, Ekin, Fidan, Fatma Rabia, Barnes, Ian, Liu, Shanlin, Somel, Mehmet, Heintzman, Peter D, Nikolskiy, Pavel, Shapiro, Beth, Skoglund, Pontus, Hofreiter, Michael, Lister, Adrian M, Götherström, Anders, and Dalén, Love
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Human Genome ,Genetics ,Acclimatization ,Alleles ,Animals ,Bayes Theorem ,DNA ,Ancient ,Elephants ,Europe ,Evolution ,Molecular ,Female ,Fossils ,Genetic Variation ,Genome ,Mitochondrial ,Genomics ,Mammoths ,Markov Chains ,Molar ,North America ,Phylogeny ,Radiometric Dating ,Siberia ,Time Factors ,General Science & Technology - Abstract
Temporal genomic data hold great potential for studying evolutionary processes such as speciation. However, sampling across speciation events would, in many cases, require genomic time series that stretch well back into the Early Pleistocene subepoch. Although theoretical models suggest that DNA should survive on this timescale1, the oldest genomic data recovered so far are from a horse specimen dated to 780-560 thousand years ago2. Here we report the recovery of genome-wide data from three mammoth specimens dating to the Early and Middle Pleistocene subepochs, two of which are more than one million years old. We find that two distinct mammoth lineages were present in eastern Siberia during the Early Pleistocene. One of these lineages gave rise to the woolly mammoth and the other represents a previously unrecognized lineage that was ancestral to the first mammoths to colonize North America. Our analyses reveal that the Columbian mammoth of North America traces its ancestry to a Middle Pleistocene hybridization between these two lineages, with roughly equal admixture proportions. Finally, we show that the majority of protein-coding changes associated with cold adaptation in woolly mammoths were already present one million years ago. These findings highlight the potential of deep-time palaeogenomics to expand our understanding of speciation and long-term adaptive evolution.
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- 2021
4. Genomics of adaptive evolution in the woolly mammoth
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Díez-del-Molino, David, Dehasque, Marianne, Chacón-Duque, J. Camilo, Pečnerová, Patrícia, Tikhonov, Alexei, Protopopov, Albert, Plotnikov, Valeri, Kanellidou, Foteini, Nikolskiy, Pavel, Mortensen, Peter, Danilov, Gleb K., Vartanyan, Sergey, Gilbert, M. Thomas P., Lister, Adrian M., Heintzman, Peter D., van der Valk, Tom, and Dalén, Love
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- 2023
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5. Evolutionary consequences of genomic deletions and insertions in the woolly mammoth genome
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van der Valk, Tom, Dehasque, Marianne, Chacón-Duque, J. Camilo, Oskolkov, Nikolay, Vartanyan, Sergey, Heintzman, Peter D., Pečnerová, Patrícia, Díez-del-Molino, David, and Dalén, Love
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- 2022
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6. Ancient and historical DNA in conservation policy
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Jensen, Evelyn L., Díez-del-Molino, David, Gilbert, M. Thomas P., Bertola, Laura D., Borges, Filipa, Cubric-Curik, Vlatka, de Navascués, Miguel, Frandsen, Peter, Heuertz, Myriam, Hvilsom, Christina, Jiménez-Mena, Belén, Miettinen, Antti, Moest, Markus, Pečnerová, Patrícia, Barnes, Ian, and Vernesi, Cristiano
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- 2022
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7. Extensive Population Structure Highlights an Apparent Paradox of Stasis in the Impala (Aepyceros melampus).
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Garcia‐Erill, Genís, Wang, Xi, Rasmussen, Malthe S., Quinn, Liam, Khan, Anubhab, Bertola, Laura D., Santander, Cindy G., Balboa, Renzo F., Ogutu, Joseph O., Pečnerová, Patrícia, Hanghøj, Kristian, Kuja, Josiah, Nursyifa, Casia, Masembe, Charles, Muwanika, Vincent, Bibi, Faysal, Moltke, Ida, Siegismund, Hans R., Albrechtsen, Anders, and Heller, Rasmus
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GENETIC load ,GENETIC drift ,POPULATION genetics ,NATURAL selection ,GENETIC variation - Abstract
Impalas are unusual among bovids because they have remained morphologically similar over millions of years—a phenomenon referred to as evolutionary stasis. Here, we sequenced 119 whole genomes from the two extant subspecies of impala, the common (Aepyceros melampus melampus) and black‐faced (A. m. petersi) impala. We investigated the evolutionary forces working within the species to explore how they might be associated with its evolutionary stasis as a taxon. Despite being one of the most abundant bovid species, we found low genetic diversity overall, and a phylogeographic signal of spatial expansion from southern to eastern Africa. Contrary to expectations under a scenario of evolutionary stasis, we found pronounced genetic structure between and within the two subspecies with indications of ancient, but not recent, gene flow. Black‐faced impala and eastern African common impala populations had more runs of homozygosity than common impala in southern Africa, and, using a proxy for genetic load, we found that natural selection is working less efficiently in these populations compared to the southern African populations. Together with the fossil record, our results are consistent with a fixed‐optimum model of evolutionary stasis, in which impalas in the southern African core of the range are able to stay near their evolutionary fitness optimum as a generalist ecotone species, whereas eastern African impalas may struggle to do so due to the effects of genetic drift and reduced adaptation to the local habitat, leading to recurrent local extinction in eastern Africa and re‐colonisation from the South. [ABSTRACT FROM AUTHOR]
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- 2024
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8. High genetic diversity and low differentiation reflect the ecological versatility of the African leopard
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Pečnerová, Patrícia, Garcia-Erill, Genís, Liu, Xiaodong, Nursyifa, Casia, Waples, Ryan K., Santander, Cindy G., Quinn, Liam, Frandsen, Peter, Meisner, Jonas, Stæger, Frederik Filip, Rasmussen, Malthe Sebro, Brüniche-Olsen, Anna, Hviid Friis Jørgensen, Christian, da Fonseca, Rute R., Siegismund, Hans R., Albrechtsen, Anders, Heller, Rasmus, Moltke, Ida, and Hanghøj, Kristian
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- 2021
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9. Properties of vertebrate predator–prey networks in the high Arctic
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Abrham, Muzit, Norén, Karin, Filella, Jordi Bartolomé, Angerbjörn, Anders, Lecomte, Nicolas, Pečnerová, Patrícia, Freire, Susana, Dalerum, Fredrik, Abrham, Muzit, Norén, Karin, Filella, Jordi Bartolomé, Angerbjörn, Anders, Lecomte, Nicolas, Pečnerová, Patrícia, Freire, Susana, and Dalerum, Fredrik
- Abstract
Predation is an important ecological process that can significantly impact the maintenance of ecosystem services. In arctic environments, the relative ecological importance of predation is thought to be increasing due to climate change, partly because of increased productivity with rising temperatures. Therefore, understanding predator–prey interactions in arctic ecosystems is vital for the sustainable management of these northern regions. Network theory provides a framework for quantifying the structures of ecological interactions. In this study, we use dietary observations on mammalian and avian predators in a high arctic region, including isolated peninsulas on Ellesmere Island and north Greenland, to construct bipartite trophic networks. We quantify the complexity, specialization, and nested as well as modular structures of these networks and also determine if these properties varied among the peninsulas. Mammal prey remains were the dominant diet item for all predators, but there was spatial variation in diet composition among peninsulas. The predator–prey networks were less complex, had more specialized interactions, and were more nested and more modular than random expectations. However, the networks displayed only moderate levels of modularity. Predator species had less specialized interactions with prey than prey had with predators. All network properties differed among the peninsulas, which highlights that ecosystems often show complex responses to environmental characteristics. We suggest that gaining knowledge about spatial variation in the characteristics of predator–prey interactions can enhance our ability to manage ecosystems exposed to environmental perturbations, particularly in high arctic environments subject to rapid environmental change.
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- 2024
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10. Population genomics of the muskox' resilience in the near absence of genetic variation
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Pečnerová, Patrícia, Lord, Edana, Garcia-Erill, Genís, Hanghøj, Kristian, Rasmussen, Malthe Sebro, Meisner, Jonas, Liu, Xiaodong, van der Valk, Tom, Santander, Cindy G., Quinn, Liam, Lin, Long, Liu, Shanlin, Carøe, Christian, Dalerum, Fredrik, Götherström, Anders, Måsviken, Johannes, Vartanyan, Sergey, Raundrup, Katrine, Al-Chaer, Amal, Rasmussen, Linett, Hvilsom, Christina, Heide-Jørgensen, Mads Peter, Sinding, Mikkel-Holger S., Aastrup, Peter, Van Coeverden de Groot, Peter J., Schmidt, Niels Martin, Albrechtsen, Anders, Dalén, Love, Heller, Rasmus, Moltke, Ida, Redlef Siegismund, Hans, Pečnerová, Patrícia, Lord, Edana, Garcia-Erill, Genís, Hanghøj, Kristian, Rasmussen, Malthe Sebro, Meisner, Jonas, Liu, Xiaodong, van der Valk, Tom, Santander, Cindy G., Quinn, Liam, Lin, Long, Liu, Shanlin, Carøe, Christian, Dalerum, Fredrik, Götherström, Anders, Måsviken, Johannes, Vartanyan, Sergey, Raundrup, Katrine, Al-Chaer, Amal, Rasmussen, Linett, Hvilsom, Christina, Heide-Jørgensen, Mads Peter, Sinding, Mikkel-Holger S., Aastrup, Peter, Van Coeverden de Groot, Peter J., Schmidt, Niels Martin, Albrechtsen, Anders, Dalén, Love, Heller, Rasmus, Moltke, Ida, and Redlef Siegismund, Hans
- Abstract
Genomic studies of species threatened by extinction are providing crucial information about evolutionary mechanisms and genetic consequences of population declines and bottlenecks. However, to understand how species avoid the extinction vortex, insights can be drawn by studying species that thrive despite past declines. Here, we studied the population genomics of the muskox (Ovibos moschatus), an Ice Age relict that was at the brink of extinction for thousands of years at the end of the Pleistocene yet appears to be thriving today. We analysed 108 whole genomes, including present-day individuals representing the current native range of both muskox subspecies, the white-faced and the barren-ground muskox (O. moschatus wardi and O. moschatus moschatus) and a ~21,000-year-old ancient individual from Siberia. We found that the muskox' demographic history was profoundly shaped by past climate changes and post-glacial re-colonizations. In particular, the white-faced muskox has the lowest genome-wide heterozygosity recorded in an ungulate. Yet, there is no evidence of inbreeding depression in native muskox populations. We hypothesize that this can be explained by the effect of long-term gradual population declines that allowed for purging of strongly deleterious mutations. This study provides insights into how species with a history of population bottlenecks, small population sizes and low genetic diversity survive against all odds.
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- 2024
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11. Use or abuse of trophy hunting for conservation genomics?
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Klinga, Peter, Pečnerová, Patrícia, Blaxter, Mark, and Höglund, Jacob
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WILDLIFE conservation , *WILDLIFE monitoring , *WILDLIFE management , *ENDANGERED species , *ZOOARCHAEOLOGY - Abstract
Novel genomic tools can yield information important for the conservation of threatened species. Remains of hunted individuals may provide important genomic information; however, the ethics of using remains of hunted animals for conservation research, especially remains of trophy‐hunted animals, is controversial. While there are ongoing political discussions considering blanket bans on the import and use of trophy‐hunted specimens, the consequences of such bans for conservation science have not been broadly discussed. Should conservation science accept samples acquired through legal trophy hunting? We investigate the ethical and practical considerations surrounding the use of biological samples acquired through legal trophy hunting. We propose that trophy‐hunted specimens should not be banned from conservation genomic research. Specimens from hunting could contribute to science and conservation genomic monitoring of wildlife and provide information for biodiversity management. [ABSTRACT FROM AUTHOR]
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- 2024
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12. Garbage consumption by Arctic terrestrial predators in one of the most pristine land areas on Earth
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Gort-Esteve, Araceli, primary, Abrham, Muzit, additional, Carøe, Christian, additional, Måsviken, Johannes, additional, Freire, Susana, additional, Lecomte, Nicolas, additional, Pečnerová, Patrícia, additional, Angerbjörn, Anders, additional, Bartolomé Filella, Jordi, additional, Norén, Karin, additional, and Dalerum, Fredrik, additional
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- 2024
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13. Population genomics of the muskox' resilience in the near absence of genetic variation
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Pečnerová, Patrícia, primary, Lord, Edana, additional, Garcia‐Erill, Genís, additional, Hanghøj, Kristian, additional, Rasmussen, Malthe Sebro, additional, Meisner, Jonas, additional, Liu, Xiaodong, additional, van der Valk, Tom, additional, Santander, Cindy G., additional, Quinn, Liam, additional, Lin, Long, additional, Liu, Shanlin, additional, Carøe, Christian, additional, Dalerum, Fredrik, additional, Götherström, Anders, additional, Måsviken, Johannes, additional, Vartanyan, Sergey, additional, Raundrup, Katrine, additional, Al‐Chaer, Amal, additional, Rasmussen, Linett, additional, Hvilsom, Christina, additional, Heide‐Jørgensen, Mads Peter, additional, Sinding, Mikkel‐Holger S., additional, Aastrup, Peter, additional, Van Coeverden de Groot, Peter J., additional, Schmidt, Niels Martin, additional, Albrechtsen, Anders, additional, Dalén, Love, additional, Heller, Rasmus, additional, Moltke, Ida, additional, and Siegismund, Hans Redlef, additional
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- 2023
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14. Competitive mapping allows for the identification and exclusion of human DNA contamination in ancient faunal genomic datasets
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Feuerborn, Tatiana R., Palkopoulou, Eleftheria, van der Valk, Tom, von Seth, Johanna, Munters, Arielle R., Pečnerová, Patrícia, Dehasque, Marianne, Ureña, Irene, Ersmark, Erik, Lagerholm, Vendela Kempe, Krzewińska, Maja, Rodríguez-Varela, Ricardo, Götherström, Anders, Dalén, Love, and Díez-del-Molino, David
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- 2020
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15. Mammuthus sp. (Early and Middle Pleistocene Mammoths)
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Pečnerová, Patrícia, Díez-del-Molino, David, van der Valk, Tom, Dehasque, Marianne, Götherström, Anders, and Dalén, Love
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- 2021
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16. Colonialism in South Africa leaves a lasting legacy of reduced genetic diversity in Cape buffalo
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Quinn, Liam, Garcia-Erill, Genís, Santander, Cindy, Brüniche-Olsen, Anna, Liu, Xiaodong, Sinding, Mikkel-Holger S., Heaton, Michael P., Smith, Timothy P. L., Pečnerová, Patrícia, Bertola, Laura D., Hanghøj, Kristian, Rasmussen, Malthe Sebro, de Jager, Deon, Siegismund, Hans R., Albrechtsen, Anders, Heller, Rasmus, Moltke, Ida, Quinn, Liam, Garcia-Erill, Genís, Santander, Cindy, Brüniche-Olsen, Anna, Liu, Xiaodong, Sinding, Mikkel-Holger S., Heaton, Michael P., Smith, Timothy P. L., Pečnerová, Patrícia, Bertola, Laura D., Hanghøj, Kristian, Rasmussen, Malthe Sebro, de Jager, Deon, Siegismund, Hans R., Albrechtsen, Anders, Heller, Rasmus, and Moltke, Ida
- Abstract
The iconic Cape buffalo has experienced several documented population declines in recent history. These declines have been largely attributed to the late 19th century rinderpest pandemic. However, the effect of the rinderpest pandemic on their genetic diversity remains contentious, and other factors that have potentially affected this diversity include environmental changes during the Pleistocene, range expansions and recent human activity. Motivated by this, we present analyses of whole genome sequencing data from 59 individuals from across the Cape buffalo range to assess present-day levels of genome-wide genetic diversity and what factors have influenced these levels. We found that the Cape buffalo has high average heterozygosity overall (0.40%), with the two southernmost populations having significantly lower heterozygosity levels (0.33% and 0.29%) on par with that of the domesticated water buffalo (0.29%). Interestingly, we found that these lower levels are probably due to recent inbreeding (average fraction of runs of homozygosity 23.7% and 19.9%) rather than factors further back in time during the Pleistocene. Moreover, detailed investigations of recent demographic history show that events across the past three centuries were the main drivers of the exceptional loss of genetic diversity in the southernmost populations, coincident with the onset of colonialism in the southern extreme of the Cape buffalo range. Hence, our results add to the growing body of studies suggesting that multiple recent human-mediated impacts during the colonial period caused massive losses of large mammal abundance in southern Africa.
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- 2023
17. Combining methods for non-invasive fecal DNA enables whole genome and metagenomic analyses in wildlife biology
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de Flamingh, Alida, Ishida, Yasuko, Pečnerová, Patrícia, Vilchis, Sahara, Siegismund, Hans R., van Aarde, Rudi J., Malhi, Ripan S., Roca, Alfred L., de Flamingh, Alida, Ishida, Yasuko, Pečnerová, Patrícia, Vilchis, Sahara, Siegismund, Hans R., van Aarde, Rudi J., Malhi, Ripan S., and Roca, Alfred L.
- Abstract
Non-invasive biological samples benefit studies that investigate rare, elusive, endangered, or dangerous species. Integrating genomic techniques that use non-invasive biological sampling with advances in computational approaches can benefit and inform wildlife conservation and management. Here, we used non-invasive fecal DNA samples to generate low- to medium-coverage genomes (e.g., >90% of the complete nuclear genome at six X-fold coverage) and metagenomic sequences, combining widely available and accessible DNA collection cards with commonly used DNA extraction and library building approaches. DNA preservation cards are easy to transport and can be stored non-refrigerated, avoiding cumbersome or costly sample methods. The genomic library construction and shotgun sequencing approach did not require enrichment or targeted DNA amplification. The utility and potential of the data generated was demonstrated through genome scale and metagenomic analyses of zoo and free-ranging African savanna elephants (Loxodonta africana). Fecal samples collected from free-ranging individuals contained an average of 12.41% (5.54–21.65%) endogenous elephant DNA. Clustering of these elephants with others from the same geographic region was demonstrated by a principal component analysis of genetic variation using nuclear genome-wide SNPs. Metagenomic analyses identified taxa that included Loxodonta, green plants, fungi, arthropods, bacteria, viruses and archaea, showcasing the utility of this approach for addressing complementary questions based on host-associated DNA, e.g., pathogen and parasite identification. The molecular and bioinformatic analyses presented here contributes towards the expansion and application of genomic techniques to conservation science and practice., Non-invasive biological samples benefit studies that investigate rare, elusive, endangered, or dangerous species. Integrating genomic techniques that use non-invasive biological sampling with advances in computational approaches can benefit and inform wildlife conservation and management. Here, we used non-invasive fecal DNA samples to generate low- to medium-coverage genomes (e.g., >90% of the complete nuclear genome at six X-fold coverage) and metagenomic sequences, combining widely available and accessible DNA collection cards with commonly used DNA extraction and library building approaches. DNA preservation cards are easy to transport and can be stored non-refrigerated, avoiding cumbersome or costly sample methods. The genomic library construction and shotgun sequencing approach did not require enrichment or targeted DNA amplification. The utility and potential of the data generated was demonstrated through genome scale and metagenomic analyses of zoo and free-ranging African savanna elephants (Loxodonta africana). Fecal samples collected from free-ranging individuals contained an average of 12.41% (5.54–21.65%) endogenous elephant DNA. Clustering of these elephants with others from the same geographic region was demonstrated by a principal component analysis of genetic variation using nuclear genome-wide SNPs. Metagenomic analyses identified taxa that included Loxodonta, green plants, fungi, arthropods, bacteria, viruses and archaea, showcasing the utility of this approach for addressing complementary questions based on host-associated DNA, e.g., pathogen and parasite identification. The molecular and bioinformatic analyses presented here contributes towards the expansion and application of genomic techniques to conservation science and practice.
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- 2023
18. Colonialism in South Africa leaves a lasting legacy of reduced genetic diversity in Cape buffalo
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Quinn, Liam, primary, Garcia‐Erill, Genís, additional, Santander, Cindy, additional, Brüniche‐Olsen, Anna, additional, Liu, Xiaodong, additional, Sinding, Mikkel‐Holger S., additional, Heaton, Michael P., additional, Smith, Timothy P. L., additional, Pečnerová, Patrícia, additional, Bertola, Laura D., additional, Hanghøj, Kristian, additional, Rasmussen, Malthe Sebro, additional, de Jager, Deon, additional, Siegismund, Hans R., additional, Albrechtsen, Anders, additional, Heller, Rasmus, additional, and Moltke, Ida, additional
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- 2023
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19. Combining methods for non-invasive fecal DNA enables whole genome and metagenomic analyses in wildlife biology
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de Flamingh, Alida, primary, Ishida, Yasuko, additional, Pečnerová, Patrícia, additional, Vilchis, Sahara, additional, Siegismund, Hans R., additional, van Aarde, Rudi J., additional, Malhi, Ripan S., additional, and Roca, Alfred L., additional
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- 2023
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20. A Skull Might Lie: Modeling Ancestral Ranges and Diet from Genes and Shape of Tree Squirrels
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Pečnerová, Patrícia, Moravec, Jiří, and Martínková, Natália
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- 2015
21. Competitive mapping allows for the identification and exclusion of human DNA contamination in ancient faunal genomic datasets
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Swedish Research Council, European Commission, Stockholm University, Feuerborn, Tatiana R. [0000-0003-1610-3402], Palkopoulou, Eleftheria [0000-0001-7382-7509], van der Valk, Tom [0000-0001-6582-3452], von Seth, Johanna [0000-0002-1324-7489], Munters, Arielle R. [0000-0003-1512-6565], Pečnerová, Patrícia [0000-0001-9350-1987], Dehasque, Marianne [0000-0002-4640-8306], Ureña, Irene [0000-0001-9724-9977], Ersmark, Erik [0000-0003-4186-7498], Krzewińska, Maja [0000-0002-6702-8724], Rodríguez-Varela, Ricardo [0000-0002-4173-8648], Götherström, Anders [0000-0001-8579-1304], Dalén, Love [0000-0001-6307-8188], Díez-Del-Molino, David [0000-0002-9701-5940], Feuerborn, Tatiana R., Palkopoulou, Eleftheria, van der Valk, Tom, von Seth, Johanna, Munters, Arielle R., Pečnerová, Patrícia, Dehasque, Marianne, Ureña, Irene, Ersmark, Erik, Lagerholm, Vendela Kempe, Krzewińska, Maja, Rodríguez-Varela, Ricardo, Götherström, Anders, Dalén, Love, Díez-Del-Molino, David, Swedish Research Council, European Commission, Stockholm University, Feuerborn, Tatiana R. [0000-0003-1610-3402], Palkopoulou, Eleftheria [0000-0001-7382-7509], van der Valk, Tom [0000-0001-6582-3452], von Seth, Johanna [0000-0002-1324-7489], Munters, Arielle R. [0000-0003-1512-6565], Pečnerová, Patrícia [0000-0001-9350-1987], Dehasque, Marianne [0000-0002-4640-8306], Ureña, Irene [0000-0001-9724-9977], Ersmark, Erik [0000-0003-4186-7498], Krzewińska, Maja [0000-0002-6702-8724], Rodríguez-Varela, Ricardo [0000-0002-4173-8648], Götherström, Anders [0000-0001-8579-1304], Dalén, Love [0000-0001-6307-8188], Díez-Del-Molino, David [0000-0002-9701-5940], Feuerborn, Tatiana R., Palkopoulou, Eleftheria, van der Valk, Tom, von Seth, Johanna, Munters, Arielle R., Pečnerová, Patrícia, Dehasque, Marianne, Ureña, Irene, Ersmark, Erik, Lagerholm, Vendela Kempe, Krzewińska, Maja, Rodríguez-Varela, Ricardo, Götherström, Anders, Dalén, Love, and Díez-Del-Molino, David
- Abstract
After over a decade of developments in field collection, laboratory methods and advances in high-throughput sequencing, contamination remains a key issue in ancient DNA research. Currently, human and microbial contaminant DNA still impose challenges on cost-effective sequencing and accurate interpretation of ancient DNA data.
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- 2020
22. Development and Optimization of a Silica Column-Based Extraction Protocol for Ancient DNA
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Dehasque, Marianne, Pečnerová, Patrícia, Kempe Lagerholm, Vendela, Ersmark, Erik, Danilov, Gleb K., Mortensen, Peter, Vartanyan, Sergey, Dalén, Love, Dehasque, Marianne, Pečnerová, Patrícia, Kempe Lagerholm, Vendela, Ersmark, Erik, Danilov, Gleb K., Mortensen, Peter, Vartanyan, Sergey, and Dalén, Love
- Abstract
Rapid and cost-effective retrieval of endogenous DNA from ancient specimens remains a limiting factor in palaeogenomic research. Many methods have been developed to increase ancient DNA yield, but modifications to existing protocols are often based on personal experience rather than systematic testing. Here, we present a new silica column-based extraction protocol, where optimizations were tested in controlled experiments. Using relatively well-preserved permafrost samples, we tested the efficiency of pretreatment of bone and tooth powder with a bleach wash and a predigestion step. We also tested the recovery efficiency of MinElute and QIAquick columns, as well as Vivaspin columns with two molecular weight cut-off values. Finally, we tested the effect of uracil-treatment with two different USER enzyme concentrations. We find that neither bleach wash combined with a predigestion step, nor predigestion by itself, significantly increased sequencing efficiency. Initial results, however, suggest that MinElute columns are more efficient for ancient DNA extractions than QIAquick columns, whereas different molecular weight cut-off values in centrifugal concentrator columns did not have an effect. Uracil treatments are effective at removing DNA damage even at concentrations of 0.15 U/µL (as compared to 0.3 U/µL) of ancient DNA extracts.
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- 2022
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23. Development and Optimization of a Silica Column-Based Extraction Protocol for Ancient DNA
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Dehasque, Marianne, primary, Pečnerová, Patrícia, additional, Kempe Lagerholm, Vendela, additional, Ersmark, Erik, additional, Danilov, Gleb K., additional, Mortensen, Peter, additional, Vartanyan, Sergey, additional, and Dalén, Love, additional
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- 2022
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24. Combining Bayesian age models and genetics to investigate population dynamics and extinction of the last mammoths in northern Siberia
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Dehasque, Marianne, Pečnerová, Patrícia, Muller, Héloïse, Tikhonov, Alexei, Nikolskiy, Pavel, Tsigankova, Valeriya, Danilov, Gleb K., Díez-del-Molino, David, Vartanyan, Sergey, Dalén, Love, Lister, Adrian M., Dehasque, Marianne, Pečnerová, Patrícia, Muller, Héloïse, Tikhonov, Alexei, Nikolskiy, Pavel, Tsigankova, Valeriya, Danilov, Gleb K., Díez-del-Molino, David, Vartanyan, Sergey, Dalén, Love, and Lister, Adrian M.
- Abstract
To understand the causes and implications of an extinction event, detailed information is necessary. However, this can be challenging when working with poorly resolved paleontological data sets. One approach to increase the data resolution is by combining different methods. In this study, we used both radiocarbon and genetic data to reconstruct the population history and extinction dynamics of the woolly mammoth in northern Siberia. We generated 88 new radiocarbon dates and combined these with previously published dates from 626 specimens to construct Bayesian age models. These models show that mammoths disappeared on the eastern Siberian mainland before the onset of the Younger Dryas (12.9–11.7 ky cal BP). Mammoths did however persist in the northernmost parts of central and western Siberia until the early Holocene. Further genetic results of 131 high quality mitogenomes, including 22 new mitogenomes generated in this study, support the hypothesis that mammoths from, or closely related to, a central and/or west- Siberian population recolonized Wrangel Island over the now submerged northern Siberian plains. As mammoths became trapped on the island due to rising sea levels, they lived another ca. 6000 years on Wrangel Island before eventually going extinct ca. 4000 years ago.
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- 2021
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25. Combining Bayesian age models and genetics to investigate population dynamics and extinction of the last mammoths in northern Siberia
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Dehasque, Marianne, primary, Pečnerová, Patrícia, additional, Muller, Héloïse, additional, Tikhonov, Alexei, additional, Nikolskiy, Pavel, additional, Tsigankova, Valeriya I., additional, Danilov, Gleb K., additional, Díez-del-Molino, David, additional, Vartanyan, Sergey, additional, Dalén, Love, additional, and Lister, Adrian M., additional
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- 2021
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26. Competitive mapping allows to identify and exclude human DNA contamination in ancient faunal genomic datasets
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Feuerborn, Tatiana R., primary, Palkopoulou, Elle, additional, van der Valk, Tom, additional, von Seth, Johanna, additional, Munters, Arielle R., additional, Pečnerová, Patrícia, additional, Dehasque, Marianne, additional, Ureña, Irene, additional, Ersmark, Erik, additional, Lagerholm, Vendela Kempe, additional, Krzewinska, Maja, additional, Rodríguez-Varela, Ricardo, additional, Götherström, Anders, additional, Dalén, Love, additional, and Díez-del-Molino, David, additional
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- 2020
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27. The pestretsy sites of the Eneolithic, Bronze and early iron Ages in the lower Kama region and their natural еnvironment. Chapter 5. 4000-year-old reindeer mitogenomes from the Volga-Kama region reveal continuity among the forest reindeer in northeastern part of European Russia
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Heino Matti, T., Askeyev Igor, V., Shaymuratova (Galimova) Dilyara, N., Askeyev Oleg, V., Askeyev Arthur, O., Tom, Van Der Valk, Pečnerová Patrícia, Dalén Love, and Aspi Jouni
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REINDEER ,СЕВЕРНЫЙ ОЛЕНЬ ,ТАТАРСТАН ,TATARSTAN ,ANCIENT DNA ,ВОЛГО-КАМЬЕ ,MITOCHONDRIAL DNA ,VOLGA-KAMA INTERFLUVE ,ДРЕВНЕЕ ДНК ,МИТОХОНДРИАЛЬНОЕ ДНК - Abstract
There are three main ecotypes of reindeer in Eurasia: tundra reindeer, boreal forest reindeer and High Arctic reindeer. Of these, especially the forest reindeer has suffered due to human over hunting and habitat fragmentation. Forest reindeer was still found in the Volga-Kama region at the beginning of the 20th century, but has since disappeared from the region. In order to investigate the genetic relationships of these historical, southernly distributed forest reindeer populations, the authors obtained mitogenome sequences from six individuals from Pestretsy II, an archaeological site located in Tatarstan and dated to around 4000 calibrated years before the present (cal BP). The sequences reported in this study represent the first published ancient reindeer mitogenomes. The authors observed genetic continuity between the historical reindeer from Tatarstan and present day wild populations from the taiga zone of northeastern part of European Russia. Interestingly, four out of the six studied individuals belong to mitochondrial control region haplogroup II, which today is a major haplogroup among the semi-domestic reindeer in Fennoscandia. Even though the haplotypes observed in Pestretsy II site are not closely related to the major haplotypes observed among the Fennoscandian semi-domestic reindeer, the results suggest that this haplogroup may have its origin east of Fennoscandia. It is also interesting to note that the size of the reindeers from the Pestretsy II site was one of the largest observed in the Holocene., В Евразии существует три основных экотипа северного оленя: тундровый северный олень, таежный северный олень и высокоарктический северный олень. Из них лесные северные олени особенно пострадали из-за чрезмерной охоты человека и фрагментации среды обитания. Лесной северный олень еще встречался в Волго-Камском регионе в начале XX века, но с тех пор исчез из данного региона. Чтобы исследовать генетические связи этих исторических, южно-распределенных популяций лесных северных оленей, авторы получили последовательности митогенома от шести особей из Пестречинской II стоянки, археологического памятника, расположенного в Татарстане и датируемого около 4000 калиброванных лет назад (кал. л.н.). Последовательности митохондриального ДНК, описанные в этом исследовании, представляют собой первые опубликованные древние митогеномы северного оленя. Авторы выявили генетическую преемственность между историческим северным оленем из Татарстана и современными дикими популяциями из таежной зоны северо-восточной части европейской части России. Интересно, что четыре из шести исследованных особей принадлежат к гаплогруппе II, она сегодня является основной гаплогруппой среди полудомашних оленей в Фенноскандии. Несмотря на то, что гаплотипы, наблюдаемые у северных оленей из Пестречинской II стоянки, не тесно связаны с основными гаплотипами, наблюдаемыми среди полудомашних северных оленей Фенноскандии, результаты показывают, что эта гаплогруппа может иметь свое происхождение к востоку от Фенноскандии. Интересно также отметить, что размеры северных оленей из Пестречинской II стоянки были одними из самых крупных наблюдавшихся в голоцене.
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- 2019
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28. Testosterone in ancient hair from an extinct species
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Koren, Lee, Matas, Devorah, Pečnerová, Patrícia, Dalén, Love, Tikhonov, Alexei, Gilbert, M. Thomas P., Wynne-edwards, Katherine E., and Geffen, Eli
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- 2018
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29. Genome-Based Sexing Provides Clues about Behavior and Social Structure in the Woolly Mammoth
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Pečnerová, Patrícia, Díez-del-Molino, David, Dussex, Nicolas, Feuerborn, Tatiana, von Seth, Johanna, van der Plicht, Johannes, Nikolskiy, Pavel, Tikhonov, Alexei, Vartanyan, Sergey, and Dalén, Love
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- 2017
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30. Genomic analysis of the process leading up to the extinction of the woolly mammoth
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Pečnerová, Patrícia and Pečnerová, Patrícia
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Species worldwide are subject to contractions in both abundance and geographical range, and their persistence in a changing environment may thus depend on the ability to survive in small and fragmented populations. Despite the urgent need to understand how extinction works, our knowledge of pre-extinction genetic processes is limited because techniques allowing population and conservation genomics to be studied in wild threatened populations have become available only recently. In this thesis, I used the last surviving population of the woolly mammoth (Mammuthus primigenius) as a model for studying pre-extinction population dynamics. I used ancient DNA as a tool to study microevolutionary processes in real time, analysing genetic changes in response to environmental shifts at the end of the last Ice Age and exploring impacts of genetic drift and inbreeding as woolly mammoths became isolated on Wrangel Island and survived for 6000 years at small population size. Using mitochondrial genomes, I found evidence of a founder effect that decreased the maternal diversity to a single lineage at the time when mammoths became trapped on Wrangel Island (~10,500 years ago). Moreover, a two- to three-fold higher mitochondrial mutation rate in Holocene and a fixed, potentially detrimental mutation in the ATP6 gene encoding for one of the key enzymes of the oxidative phosphorylation pathway, is consistent with the hypothesis that selection is less effective in removing deleterious mutations in small populations. A loss of diversity was also observed in an immunity gene that belongs to the major histocompatibility complex (MHC), even though the MHC is considered to be under balancing selection. Low-coverage genomic data was analysed in order to estimate endogenous DNA content and molecular sex of the mammoth samples. The observation of a male bias (69%) in the sex ratio led to the conclusion that male mammoths were more likely to die in a way that ensured good preservation. Another, At the time of the doctoral defense, the following papers were unpublished and had a status as follows: Paper 4: Manuscript. Paper 5: Manuscript.
- Published
- 2018
31. Testosterone in ancient hair from an extinct species
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Koren, Lee, primary, Matas, Devorah, additional, Pečnerová, Patrícia, additional, Dalén, Love, additional, Tikhonov, Alexei, additional, Gilbert, M. Thomas P., additional, Wynne-Edwards, Katherine E., additional, and Geffen, Eli, additional
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- 2018
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32. Mitogenome evolution in the last surviving woolly mammoth population reveals neutral and functional consequences of small population size
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Pečnerová, Patrícia, Palkopoulou, Eleftheria, Wheat, Christopher W., Skoglund, Pontus, Vartanyan, Sergey, Tikhonov, Alexei, Nikolskiy, Pavel, van der Plicht, Johannes, Díez-del-Molino, David, Dalén, Love, Pečnerová, Patrícia, Palkopoulou, Eleftheria, Wheat, Christopher W., Skoglund, Pontus, Vartanyan, Sergey, Tikhonov, Alexei, Nikolskiy, Pavel, van der Plicht, Johannes, Díez-del-Molino, David, and Dalén, Love
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- 2017
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33. Spatial variation in Arctic hare (Lepus arcticus) populations around the Hall Basin
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Dalerum, Fredrik, Dalén, Love, Fröjd, Christina, Lecomte, Nicolas, Lindgren, Åsa, Meijer, Tomas, Pečnerová, Patrícia, Angerbjörn, Anders, Dalerum, Fredrik, Dalén, Love, Fröjd, Christina, Lecomte, Nicolas, Lindgren, Åsa, Meijer, Tomas, Pečnerová, Patrícia, and Angerbjörn, Anders
- Abstract
Arctic environments have relatively simple ecosystems. Yet, we still lack knowledge of the spatio-temporal dynamics of many Arctic organisms and how they are affected by local and regional processes. The Arctic hare (Lepus arcticus) is a large lagomorph endemic to high Arctic environments in Canada and Greenland. Current knowledge about this herbivore is scarce and the temporal and spatial dynamics of their populations are poorly understood. Here, we present observations on Arctic hares in two sites on north Greenland (Hall and Washington lands) and one adjacent site on Ellesmere Island (Judge Daly Promontory). We recorded a large range of group sizes from 1 to 135 individuals, as well as a substantial variation in hare densities among the three sites (Hall land: 0 animals/100 km(2), Washington land 14.5-186.7 animals/100 km(2), Judge Daly Promontory 0.18-2.95 animals/100 km(2)). However, pellet counts suggested that both Hall land and Judge Daly Promontory hosted larger populations at other times. We suggest that our results could have been caused by three spatially differentiated populations with asynchronous population fluctuations. With food limitation being a likely driver behind the observed variation, we argue that food limitation likely interacts with predation and competition in shaping the spatial dynamics of Arctic hares in this region.
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- 2017
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34. Mitogenome evolution in the last surviving woolly mammoth population reveals neutral and functional consequences of small population size
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Pečnerová, Patrícia, primary, Palkopoulou, Eleftheria, additional, Wheat, Christopher W., additional, Skoglund, Pontus, additional, Vartanyan, Sergey, additional, Tikhonov, Alexei, additional, Nikolskiy, Pavel, additional, van der Plicht, Johannes, additional, Díez-del-Molino, David, additional, and Dalén, Love, additional
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- 2017
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35. Changes in variation at the MHC class II DQA locus during the final demise of the woolly mammoth.
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Pečnerová, Patrícia, Díez-Del-Molino, David, Vartanyan, Sergey, Dalén, Love, Pečnerová, Patrícia, Díez-Del-Molino, David, Vartanyan, Sergey, and Dalén, Love
- Abstract
According to the nearly-neutral theory of evolution, the relative strengths of selection and drift shift in favour of drift at small population sizes. Numerous studies have analysed the effect of bottlenecks and small population sizes on genetic diversity in the MHC, which plays a central role in pathogen recognition and immune defense and is thus considered a model example for the study of adaptive evolution. However, to understand changes in genetic diversity at loci under selection, it is necessary to compare the genetic diversity of a population before and after the bottleneck. In this study, we analyse three fragments of the MHC DQA gene in woolly mammoth samples radiocarbon dated to before and after a well-documented bottleneck that took place about ten thousand years ago. Our results indicate a decrease in observed heterozygosity and number of alleles, suggesting that genetic drift had an impact on the variation on MHC. Based on coalescent simulations, we found no evidence of balancing selection maintaining MHC diversity during the Holocene. However, strong trans-species polymorphism among mammoths and elephants points to historical effects of balancing selection on the woolly mammoth lineage.
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- 2016
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36. Changes in variation at the MHC class II DQA locus during the final demise of the woolly mammoth
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Pečnerová, Patrícia, primary, Díez-del-Molino, David, additional, Vartanyan, Sergey, additional, and Dalén, Love, additional
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- 2016
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37. Evolutionary history of tree squirrels (Rodentia, Sciurini) based on multilocus phylogeny reconstruction
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Pečnerová, Patrícia, primary and Martínková, Natália, additional
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- 2012
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38. Pre-extinction population dynamics and genome erosion in the woolly mammoth
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Pečnerová, Patrícia, Díez-Del-Molino, David, Palkopoulou, Eleftheria, Skoglund, Pontus, Tikhonov, Alexei, Nikolskiy, Pavel, Vartanyan, Sergey, Dalén, Love, Pečnerová, Patrícia, Díez-Del-Molino, David, Palkopoulou, Eleftheria, Skoglund, Pontus, Tikhonov, Alexei, Nikolskiy, Pavel, Vartanyan, Sergey, and Dalén, Love
39. Testosterone in ancient hair from an extinct species
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Koren, Lee, Matas, Devorah, Pečnerová, Patrícia, Dalén, Love, Tikhonov, Alexei, Gilbert, M. Thomas P., Geffen, Eli, Koren, Lee, Matas, Devorah, Pečnerová, Patrícia, Dalén, Love, Tikhonov, Alexei, Gilbert, M. Thomas P., and Geffen, Eli
40. Temporal dynamics of woolly mammoth genome erosion prior to extinction
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Dehasque, Marianne, Morales, Hernán E., Díez del Molino, David, Pečnerová, Patrícia, Chacón-Duque, J. Camilo, Kanelidou, Foteini, Muller, Héloïse, Plotnikov, Valeri, Protopopov, Albert, Tikhonov, Alexei, Nikolskiy, Pavel, Danilov, Gleb K., Heintzman, Peter D., Oskolkov, Nikolay, Gilbert, M. Thomas P., Götherström, Anders, van der Valk, Tom, Vartanyan, Sergey, Dalén, Love, Dehasque, Marianne, Morales, Hernán E., Díez del Molino, David, Pečnerová, Patrícia, Chacón-Duque, J. Camilo, Kanelidou, Foteini, Muller, Héloïse, Plotnikov, Valeri, Protopopov, Albert, Tikhonov, Alexei, Nikolskiy, Pavel, Danilov, Gleb K., Heintzman, Peter D., Oskolkov, Nikolay, Gilbert, M. Thomas P., Götherström, Anders, van der Valk, Tom, Vartanyan, Sergey, and Dalén, Love
- Abstract
A large number of species have recently recovered from near-extinction events. Understanding the genetic consequences of severe population declines followed by demographic recoveries is key to predict the long-term viability of species in order to mitigate future extinction risks. Although these species have avoided the immediate extinction threat, their long-term viability remains questionable due to the genetic consequences of population declines, which are not understood on a time scale beyond a few generations. The woolly mammoth (Mammuthus primigenius) population on Wrangel Island is an excellent model system to investigate long-term genetic consequences of a population bottleneck. Mammoths became isolated on the island in the early Holocene due to rising sea levels, and persisted for over 200 generations (~6,000 years) before becoming extinct ~4,000 years ago. To study the evolutionary processes leading up to the extinction of the woolly mammoth on the island, we analysed 21 Siberian woolly mammoth genomes, including that of one of the last known mammoths. Our results show that the Wrangel Island mammoths recovered quickly from an initially severe bottleneck, and subsequently remained demographically stable during the ensuing 6 millennia. Further, we find that highly deleterious mutations were gradually purged from the population, whereas there was an accumulation of mildly deleterious mutations. The gradual purging of highly deleterious mutations suggests an ongoing inbreeding depression that lasted for hundreds of generations. This time-lag between demographic and genetic recovery has wide-ranging implications for conservation management of recently bottlenecked present-day populations.
41. Population genomics of the muskox' resilience in the near absence of genetic variation.
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Pečnerová P, Lord E, Garcia-Erill G, Hanghøj K, Rasmussen MS, Meisner J, Liu X, van der Valk T, Santander CG, Quinn L, Lin L, Liu S, Carøe C, Dalerum F, Götherström A, Måsviken J, Vartanyan S, Raundrup K, Al-Chaer A, Rasmussen L, Hvilsom C, Heide-Jørgensen MP, Sinding MS, Aastrup P, Van Coeverden de Groot PJ, Schmidt NM, Albrechtsen A, Dalén L, Heller R, Moltke I, and Siegismund HR
- Subjects
- Humans, Animals, Infant, Newborn, Biological Evolution, Genomics, Ruminants genetics, Genetic Variation genetics, Metagenomics, Resilience, Psychological
- Abstract
Genomic studies of species threatened by extinction are providing crucial information about evolutionary mechanisms and genetic consequences of population declines and bottlenecks. However, to understand how species avoid the extinction vortex, insights can be drawn by studying species that thrive despite past declines. Here, we studied the population genomics of the muskox (Ovibos moschatus), an Ice Age relict that was at the brink of extinction for thousands of years at the end of the Pleistocene yet appears to be thriving today. We analysed 108 whole genomes, including present-day individuals representing the current native range of both muskox subspecies, the white-faced and the barren-ground muskox (O. moschatus wardi and O. moschatus moschatus) and a ~21,000-year-old ancient individual from Siberia. We found that the muskox' demographic history was profoundly shaped by past climate changes and post-glacial re-colonizations. In particular, the white-faced muskox has the lowest genome-wide heterozygosity recorded in an ungulate. Yet, there is no evidence of inbreeding depression in native muskox populations. We hypothesize that this can be explained by the effect of long-term gradual population declines that allowed for purging of strongly deleterious mutations. This study provides insights into how species with a history of population bottlenecks, small population sizes and low genetic diversity survive against all odds., (© 2023 John Wiley & Sons Ltd.)
- Published
- 2024
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