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Sökning: WFRF:(Dalén Love)

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1.
  • Liu, Shanlin, et al. (författare)
  • Ancient and modem genomes unravel the evolutionary history of the rhinoceros family
  • 2021
  • Ingår i: Cell. - : Elsevier. - 0092-8674 .- 1097-4172. ; 184:19, s. 4874-4885.e16
  • Tidskriftsartikel (refereegranskat)abstract
    • Only five species of the once-diverse Rhinocerotidae remain, making the reconstruction of their evolutionary history a challenge to biologists since Darwin. We sequenced genomes from five rhinoceros species (three extinct and two living), which we compared to existing data from the remaining three living species and a range of outgroups. We identify an early divergence between extant African and Eurasian lineages, resolving a key debate regarding the phylogeny of extant rhinoceroses. This early Miocene (similar to 16 million years ago [mya]) split post-dates the land bridge formation between the Afro-Arabian and Eurasian landmasses. Our analyses also show that while rhinoceros genomes in general exhibit low levels of genome-wide diversity, heterozygosity is lowest and inbreeding is highest in the modern species. These results suggest that while low genetic diversity is a long-term feature of the family, it has been particularly exacerbated recently, likely reflecting recent anthropogenic-driven population declines.
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2.
  • Ameen, Carly, et al. (författare)
  • Specialized sledge dogs accompanied Inuit dispersal across the North American Arctic
  • 2019
  • Ingår i: Proceedings of the Royal Society of London. Biological Sciences. - : The Royal Society. - 0962-8452 .- 1471-2954. ; 286:1916
  • Tidskriftsartikel (refereegranskat)abstract
    • Domestic dogs have been central to life in the North American Arctic for millennia. The ancestors of the Inuit were the first to introduce the widespread usage of dog sledge transportation technology to the Americas, but whether the Inuit adopted local Palaeo-Inuit dogs or introduced a new dog population to the region remains unknown. To test these hypotheses, we generated mitochondrial DNA and geometric morphometric data of skull and dental elements from a total of 922 North American Arctic dogs and wolves spanning over 4500 years. Our analyses revealed that dogs from Inuit sites dating from 2000 BP possess morphological and genetic signatures that distinguish them from earlier Palaeo-Inuit dogs, and identified a novel mitochondrial clade in eastern Siberia and Alaska. The genetic legacy of these Inuit dogs survives today in modern Arctic sledge dogs despite phenotypic differences between archaeological and modern Arctic dogs. Together, our data reveal that Inuit dogs derive from a secondary pre-contact migration of dogs distinct from Palaeo-Inuit dogs, and probably aided the Inuit expansion across the North American Arctic beginning around 1000 BP.
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4.
  • Angerbjörn, Anders, et al. (författare)
  • Carnivore conservation in practice : replicatedmanagement actions on a large spatial scale
  • 2013
  • Ingår i: Journal of Applied Ecology. - : Wiley. - 0021-8901 .- 1365-2664. ; 50:1, s. 59-67
  • Tidskriftsartikel (refereegranskat)abstract
    • More than a quarter of the world’s carnivores are threatened, often due to multiple andcomplex causes. Considerable research efforts are devoted to resolving the mechanisms behindthese threats in order to provide a basis for relevant conservation actions. However, evenwhen the underlying mechanisms are known, specific actions aimed at direct support for carnivoresare difficult to implement and evaluate at efficient spatial and temporal scales.2. We report on a 30-year inventory of the critically endangered Fennoscandian arctic foxVulpes lagopus L., including yearly surveys of 600 fox dens covering 21 000 km2. These surveysshowed that the population was close to extinction in 2000, with 40–60 adult animalsleft. However, the population subsequently showed a fourfold increase in size.3. During this time period, conservation actions through supplementary feeding and predatorremoval were implemented in several regions across Scandinavia, encompassing 79% of thearea. To evaluate these actions, we examined the effect of supplemental winter feeding andred fox control applied at different intensities in 10 regions. A path analysis indicated that47% of the explained variation in population productivity could be attributed to lemmingabundance, whereas winter feeding had a 29% effect and red fox control a 20% effect.4. This confirms that arctic foxes are highly dependent on lemming population fluctuationsbut also shows that red foxes severely impact the viability of arctic foxes. This study also highlightsthe importance of implementing conservation actions on extensive spatial and temporalscales, with geographically dispersed actions to scientifically evaluate the effects. We note thatpopulation recovery was only seen in regions with a high intensity of management actions.5. Synthesis and applications. The present study demonstrates that carnivore populationdeclines may be reversed through extensive actions that target specific threats. Fennoscandianarctic fox is still endangered, due to low population connectivity and expected climate impactson the distribution and dynamics of lemmings and red foxes. Climate warming is expected tocontribute to both more irregular lemming dynamics and red fox appearance in tundra areas;however, the effects of climate change can be mitigated through intensive managementactions such as supplemental feeding and red fox control.
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5.
  • Ardalan, Arman, 1976- (författare)
  • Molecular Profiling of the Population Dynamics : Foundation and Expansion of an Archaic Domesticate
  • 2012
  • Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
    • "An ‘exponential growth of science’ throughout modern history has been frequently boasted by numerous narcissistic accounts of ‘modern humanity.’ Nonetheless, ‘modern science’ seems to have overwhelmingly compromised on its original promises by fitting into an ‘industrial scheme.’ With this concern, ‘molecular phylogeographics with conservational ambitions’ would look an intact ground for research efforts in a ‘school of biotechnology.’ The dog (Canis familiaris) as an earliest domestic animal has a history of conflicts over its origins and dispersal. Having those disputes addressed, valuable knowledge could be acquired on the nature and dynamics of domestication, and of human societies particularly of pre-agricultural ages. We employed two most widely-used genealogical markers, the mitochondrial DNA (mtDNA) and the non-recombining portion of the Y-chromosome (NRY), to address dog demography. Through 582 bps of mtDNA Control Region, complemented with whole mitochondrial genomes, it was established that almost all maternal lineages of the domestic dog worldwide coalesce to a population of at least 51 and perhaps many more female wolves in Asia South of Yangtze River (ASY) approximately 16,000 years before present (BP). This was based on the presence of a maximal diversity in this area, a descending gradient of diversity outward it, and a ubiquitous population structure everywhere in the world. A closer examination of this portrait in Southwest Asia (SwAsia) and the Fertile Crescent (FC), a region which has supplied persuasive evidence on early presence of the domestic dog, retrieved the same information, with implications for backbreeding with the local wolf population. Meanwhile, analyses of mtDNA dispersal showed that dogs took the long way via land to Madagascar Island, and not together with humans via sea. By the other approach, the NRY data in 14,437 bps length supplemented the mtDNA in reporting the height of diversity from ASY with a founding population of at least 13 male wolves, but expectably produced lower inter-regional differentiation by diversity. Screening of NRY by a SNP assay in the dingoes of Australia Island as a population of feral dogs revealed restricted and similar dispersal patterns for sires and dams. Prospects of ancient, multilocus and whole genome assays with the emerging high-throughput technologies has still more to promise on finer elaborations of these issues."
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6.
  • Bannikova, Anna A., et al. (författare)
  • Who are you, Griselda? A replacement name for a new genus of the Asiatic short-tailed shrews (Mammalia, Eulipotyphla, Soricidae) : molecular and morphological analyses with the discussion of tribal affinities
  • 2019
  • Ingår i: ZooKeys. - : Pensoft Publishers. - 1313-2989 .- 1313-2970. ; :888, s. 133-158
  • Tidskriftsartikel (refereegranskat)abstract
    • The first genetic study of the holotype of the Gansu short-tailed shrew, Blarinella griselda Thomas, 1912, is presented. The mitochondrial analysis demonstrated that the type specimen of B. griselda is close to several recently collected specimens from southern Gansu, northern Sichuan and Shaanxi, which are highly distinct from the two species of Asiatic short-tailed shrews of southern Sichuan, Yunnan, and Vietnam, B. quadraticauda and B. wardi. Our analysis of four nuclear genes supported the placement of B. griselda as sister to B. quadraticauda / B. wardi, with the level of divergence between these two clades corresponding to that among genera of Soricinae. A new generic name, Parablarinella, is proposed for the Gansu short-tailed shrew. Karyotypes of Parablarinella griselda (2n = 49, NFa = 50) and B. quadraticauda (2n = 49, NFa = 62) from southern Gansu are described. The tribal affinities of Blarinellini and Blarinini are discussed.
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7.
  • Barlow, Axel, et al. (författare)
  • Middle Pleistocene genome calibrates a revised evolutionary history of extinct cave bears
  • 2021
  • Ingår i: Current Biology. - : Elsevier BV. - 0960-9822 .- 1879-0445. ; 31:8, s. 1771-1779
  • Tidskriftsartikel (refereegranskat)abstract
    • Palaeogenomes provide the potential to study evolutionary processes in real time, but this potential is limited by our ability to recover genetic data over extended timescales.1 As a consequence, most studies so far have focused on samples of Late Pleistocene or Holocene age, which covers only a small part of the history of many clades and species. Here, we report the recovery of a low coverage palaeogenome from the petrous bone of a 360,000 year old cave bear from Kudaro 1 cave in the Caucasus Mountains. Analysis of this genome alongside those of several Late Pleistocene cave bears reveals widespread mito-nuclear discordance in this group. Using the time interval between Middle and Late Pleistocene cave bear genomes, we directly estimate ursid nuclear and mitochondrial substitution rates to calibrate their respective phylogenies. This reveals postdivergence mitochondrial transfer as the dominant factor explaining their mito-nuclear discordance. Interestingly, these transfer events were not accompanied by large-scale nuclear introgression. However, we do detect additional instances of nuclear admixture among other cave bear lineages, and between cave bears and brown bears, which are not associated with mitochondrial exchange. Genomic data obtained from the Middle Pleistocene cave bear petrous bone has thus facilitated a revised evolutionary history of this extinct megafaunal group. Moreover, it suggests that petrous bones may provide a means of extending both the magnitude and time depth of palaeogenome retrieval over substantial portions of the evolutionary histories of many mammalian clades.
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9.
  • Barnett, Ross, et al. (författare)
  • Genomic Adaptations and Evolutionary History of the Extinct Scimitar-Toothed Cat, Homotherium latidens
  • 2020
  • Ingår i: Current Biology. - 0960-9822 .- 1879-0445.
  • Tidskriftsartikel (refereegranskat)abstract
    • Summary Homotherium was a genus of large-bodied scimitar-toothed cats, morphologically distinct from any extant felid species, that went extinct at the end of the Pleistocene [1, 2, 3, 4]. They possessed large, saber-form serrated canine teeth, powerful forelimbs, a sloping back, and an enlarged optic bulb, all of which were key characteristics for predation on Pleistocene megafauna [5]. Previous mitochondrial DNA phylogenies suggested that it was a highly divergent sister lineage to all extant cat species [6, 7, 8]. However, mitochondrial phylogenies can be misled by hybridization [9], incomplete lineage sorting (ILS), or sex-biased dispersal patterns [10], which might be especially relevant for Homotherium since widespread mito-nuclear discrepancies have been uncovered in modern cats [10]. To examine the evolutionary history of Homotherium, we generated a ∼7x nuclear genome and a ∼38x exome from H. latidens using shotgun and target-capture sequencing approaches. Phylogenetic analyses reveal Homotherium as highly divergent (∼22.5 Ma) from living cat species, with no detectable signs of gene flow. Comparative genomic analyses found signatures of positive selection in several genes, including those involved in vision, cognitive function, and energy consumption, putatively consistent with diurnal activity, well-developed social behavior, and cursorial hunting [5]. Finally, we uncover relatively high levels of genetic diversity, suggesting that Homotherium may have been more abundant than the limited fossil record suggests [3, 4, 11, 12, 13, 14]. Our findings complement and extend previous inferences from both the fossil record and initial molecular studies, enhancing our understanding of the evolution and ecology of this remarkable lineage.
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11.
  • Bergström, Anders, et al. (författare)
  • Grey wolf genomic history reveals a dual ancestry of dogs
  • 2022
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 607:7918, s. 313-320
  • Tidskriftsartikel (refereegranskat)abstract
    • The grey wolf (Canis lupus) was the first species to give rise to a domestic population, and they remained widespread throughout the last Ice Age when many other large mammal species went extinct. Little is known, however, about the history and possible extinction of past wolf populations or when and where the wolf progenitors of the present-day dog lineage (Canis familiaris) lived. Here we analysed 72 ancient wolf genomes spanning the last 100,000 years from Europe, Siberia and North America. We found that wolf populations were highly connected throughout the Late Pleistocene, with levels of differentiation an order of magnitude lower than they are today. This population connectivity allowed us to detect natural selection across the time series, including rapid fixation of mutations in the gene IFT88 40,000–30,000 years ago. We show that dogs are overall more closely related to ancient wolves from eastern Eurasia than to those from western Eurasia, suggesting a domestication process in the east. However, we also found that dogs in the Near East and Africa derive up to half of their ancestry from a distinct population related to modern southwest Eurasian wolves, reflecting either an independent domestication process or admixture from local wolves. None of the analysed ancient wolf genomes is a direct match for either of these dog ancestries, meaning that the exact progenitor populations remain to be located.
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12.
  • Bergström, Anders, et al. (författare)
  • Origins and genetic legacy of prehistoric dogs
  • 2020
  • Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 370:6516, s. 557-563
  • Tidskriftsartikel (refereegranskat)abstract
    • Dogs were the first domestic animal, but little is known about their population history and to what extent it was linked to humans. We sequenced 27 ancient dog genomes and found that all dogs share a common ancestry distinct from present-day wolves, with limited gene flow from wolves since domestication but substantial dog-to-wolf gene flow. By 11,000 years ago, at least five major ancestry lineages had diversified, demonstrating a deep genetic history of dogs during the Paleolithic. Coanalysis with human genomes reveals aspects of dog population history that mirror humans, including Levant-related ancestry in Africa and early agricultural Europe. Other aspects differ, including the impacts of steppe pastoralist expansions in West and East Eurasia and a near-complete turnover of Neolithic European dog ancestry.
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14.
  • Brace, Selina, et al. (författare)
  • Evolutionary History of the Nesophontidae, the Last Unplaced Recent Mammal Family
  • 2016
  • Ingår i: Molecular biology and evolution. - : Oxford University Press (OUP). - 0737-4038 .- 1537-1719. ; 33:12, s. 3095-3103
  • Tidskriftsartikel (refereegranskat)abstract
    • The mammalian evolutionary tree has lost several major clades through recent human-caused extinctions. This process of historical biodiversity loss has particularly affected tropical island regions such as the Caribbean, an area of great evolutionary diversification but poor molecular preservation. The most enigmatic of the recently extinct endemic Caribbean mammals are the Nesophontidae, a family of morphologically plesiomorphic lipotyphlan insectivores with no consensus on their evolutionary affinities, and which constitute the only major recent mammal clade to lack any molecular information on their phylogenetic placement. Here, we use a palaeogenomic approach to place Nesophontidae within the phylogeny of recent Lipotyphla. We recovered the near-complete mitochondrial genome and sequences for 17 nuclear genes from a similar to 750-year-old Hispaniolan Nesophontes specimen, and identify a divergence from their closest living relatives, the Solenodontidae, more than 40 million years ago. Nesophontidae is thus an older distinct lineage than many extant mammalian orders, highlighting not only the role of island systems as "museums" of diversity that preserve ancient lineages, but also the major human-caused loss of evolutionary history.
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15.
  • Brace, Selina, et al. (författare)
  • Serial population extinctions in a small mammal indicate Late Pleistocene ecosystem instability
  • 2012
  • Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 0027-8424 .- 1091-6490. ; 109:50, s. 20532-20536
  • Tidskriftsartikel (refereegranskat)abstract
    • The Late Pleistocene global extinction of many terrestrial mammal species has been a subject of intensive scientific study for over a century, yet the relative contributions of environmental changes and the global expansion of humans remain unresolved. A defining component of these extinctions is a bias toward large species, with the majority of small-mammal taxa apparently surviving into the present. Here, we investigate the population-level history of a key tundra-specialist small mammal, the collared lemming (Dicrostonyx torquatus), to explore whether events during the Late Pleistocene had a discernible effect beyond the large mammal fauna. Using ancient DNA techniques to sample across three sites in North-West Europe, we observe a dramatic reduction in genetic diversity in this species over the last 50,000 y. We further identify a series of extinction-recolonization events, indicating a previously unrecognized instability in Late Pleistocene small-mammal populations, which we link with climatic fluctuations. Our results reveal climate-associated, repeated regional extinctions in a keystone prey species across the Late Pleistocene, a pattern likely to have had an impact on the wider steppe-tundra community, and one that is concordant with environmental change as a major force in structuring Late Pleistocene biodiversity.
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16.
  • Brealey, Jaelle C., et al. (författare)
  • Dental Calculus as a Tool to Study the Evolution of the Mammalian Oral Microbiome
  • 2020
  • Ingår i: Molecular biology and evolution. - : OXFORD UNIV PRESS. - 0737-4038 .- 1537-1719. ; 37:10, s. 3003-3022
  • Tidskriftsartikel (refereegranskat)abstract
    • Dental calculus, the calcified form of the mammalian oral microbial plaque biofilm, is a rich source of oral microbiome, host, and dietary biomolecules and is well preserved in museum and archaeological specimens. Despite its wide presence in mammals, to date, dental calculus has primarily been used to study primate microbiome evolution. We establish dental calculus as a valuable tool for the study of nonhuman host microbiome evolution, by using shotgun metagenomics to characterize the taxonomic and functional composition of the oral microbiome in species as diverse as gorillas, bears, and reindeer. We detect oral pathogens in individuals with evidence of oral disease, assemble near-complete bacterial genomes from historical specimens, characterize antibiotic resistance genes, reconstruct components of the host diet, and recover host genetic profiles. Our work demonstrates that metagenomic analyses of dental calculus can be performed on a diverse range of mammalian species, which will allow the study of oral microbiome and pathogen evolution from a comparative perspective. As dental calculus is readily preserved through time, it can also facilitate the quantification of the impact of anthropogenic changes on wildlife and the environment.
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17.
  • Burnett, Hamish A., et al. (författare)
  • Contrasting genomic consequences of anthropogenic reintroduction and natural recolonization in high-arctic wild reindeer
  • 2023
  • Ingår i: Evolutionary Applications. - 1752-4571. ; 16:9, s. 1531-1548
  • Tidskriftsartikel (refereegranskat)abstract
    • Anthropogenic reintroduction can supplement natural recolonization in reestablishing a species' distribution and abundance. However, both reintroductions and recolonizations can give rise to founder effects that reduce genetic diversity and increase inbreeding, potentially causing the accumulation of genetic load and reduced fitness. Most current populations of the endemic high-arctic Svalbard reindeer (Rangifer tarandus platyrhynchus) originate from recent reintroductions or recolonizations following regional extirpations due to past overharvesting. We investigated and compared the genomic consequences of these two paths to reestablishment using whole-genome shotgun sequencing of 100 Svalbard reindeer across their range. We found little admixture between reintroduced and natural populations. Two reintroduced populations, each founded by 12 individuals around four decades (i.e. 8 reindeer generations) ago, formed two distinct genetic clusters. Compared to the source population, these populations showed only small decreases in genome-wide heterozygosity and increases in inbreeding and lengths of runs of homozygosity. In contrast, the two naturally recolonized populations without admixture possessed much lower heterozygosity, higher inbreeding and longer runs of homozygosity, possibly caused by serial population founder effects and/or fewer or more genetically related founders than in the reintroduction events. Naturally recolonized populations can thus be more vulnerable to the accumulation of genetic load than reintroduced populations. This suggests that in some organisms even small-scale reintroduction programs based on genetically diverse source populations can be more effective than natural recolonization in establishing genetically diverse populations. These findings warrant particular attention in the conservation and management of populations and species threatened by habitat fragmentation and loss. 
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18.
  • Cappellini, Enrico, et al. (författare)
  • Early Pleistocene enamel proteome from Dmanisi resolves Stephanorhinus phylogeny
  • 2019
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 574:7776, s. 103-
  • Tidskriftsartikel (refereegranskat)abstract
    • The sequencing of ancient DNA has enabled the reconstruction of speciation, migration and admixture events for extinct taxa(1). However, the irreversible post-mortem degradation(2) of ancient DNA has so far limited its recovery-outside permafrost areasto specimens that are not older than approximately 0.5 million years (Myr)(3). By contrast, tandem mass spectrometry has enabled the sequencing of approximately 1.5-Myr-old collagen type I-4. and suggested the presence of protein residues in fossils of the Cretaceous period(5)-although with limited phylogenetic use(6). In the absence of molecular evidence, the speciation of several extinct species of the Early and Middle Pleistocene epoch remains contentious. Here we address the phylogenetic relationships of the Eurasian Rhinocerotidae of the Pleistocene epoch(7-9), using the proteome of dental enamel from a Stephanorhinus tooth that is approximately 1.77-Myr old, recovered from the archaeological site of Dmanisi (South Caucasus, Georgia)(10). Molecular phylogenetic analyses place this Stephanorhinus as a sister group to the Glade formed by the woolly rhinoceros (Coelodonta antiquitatis) and Merck's rhinoceros (Stephanorhinus kirchbergensis). We show that Coelodonta evolved from an early Stephanorhinus lineage, and that this latter genus includes at least two distinct evolutionary lines. The genus Stephanorhinus is therefore currently paraphyletic, and its systematic revision is needed. We demonstrate that sequencing the proteome of Early Pleistocene dental enamel overcomes the limitations of phylogenetic inference based on ancient collagen or DNA. Our approach also provides additional information about the sex and taxonomic assignment of other specimens from Dmanisi. Our findings reveal that proteomic investigation of ancient dental enamel-which is the hardest tissue in vertebrates(11), and is highly abundant in the fossil record-can push the reconstruction of molecular evolution further back into the Early Pleistocene epoch, beyond the currently known limits of ancient DNA preservation.
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19.
  • Cappellini, Enrico, et al. (författare)
  • Resolution of the type material of the Asian elephant, Elephas maximus Linnaeus, 1758 (Proboscidea, Elephantidae)
  • 2014
  • Ingår i: Zoological Journal of the Linnean Society. - : Oxford University Press (OUP). - 0024-4082 .- 1096-3642. ; 170:1, s. 222-232
  • Tidskriftsartikel (refereegranskat)abstract
    • The understanding of Earth's biodiversity depends critically on the accurate identification and nomenclature of species. Many species were described centuries ago, and in a surprising number of cases their nomenclature or type material remain unclear or inconsistent. A prime example is provided by Elephas maximus, one of the most iconic and well-known mammalian species, described and named by Linnaeus (1758) and today designating the Asian elephant. We used morphological, ancient DNA (aDNA), and high-throughput ancient proteomic analyses to demonstrate that a widely discussed syntype specimen of E.maximus, a complete foetus preserved in ethanol, is actually an African elephant, genus Loxodonta. We further discovered that an additional E.maximus syntype, mentioned in a description by John Ray (1693) cited by Linnaeus, has been preserved as an almost complete skeleton at the Natural History Museum of the University of Florence. Having confirmed its identity as an Asian elephant through both morphological and ancient DNA analyses, we designate this specimen as the lectotype of E.maximus. The mass spectrometry proteomics data have been deposited in the ProteomeXchange Consortium with the data set identifier PXD000423.
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20.
  • Chang, Dan, et al. (författare)
  • The evolutionary and phylogeographic history of woolly mammoths : a comprehensive mitogenomic analysis
  • 2017
  • Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 7
  • Tidskriftsartikel (refereegranskat)abstract
    • Near the end of the Pleistocene epoch, populations of the woolly mammoth (Mammuthus primigenius) were distributed across parts of three continents, from western Europe and northern Asia through Beringia to the Atlantic seaboard of North America. Nonetheless, questions about the connectivity and temporal continuity of mammoth populations and species remain unanswered. We use a combination of targeted enrichment and high-throughput sequencing to assemble and interpret a data set of 143 mammoth mitochondrial genomes, sampled from fossils recovered from across their Holarctic range. Our dataset includes 54 previously unpublished mitochondrial genomes and significantly increases the coverage of the Eurasian range of the species. The resulting global phylogeny confirms that the Late Pleistocene mammoth population comprised three distinct mitochondrial lineages that began to diverge ~1.0–2.0 million years ago (Ma). We also find that mammoth mitochondrial lineages were strongly geographically partitioned throughout the Pleistocene. In combination, our genetic results and the pattern of morphological variation in time and space suggest that male-mediated gene flow, rather than large-scale dispersals, was important in the Pleistocene evolutionary history of mammoths.
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21.
  • Ciucani, Marta Maria, et al. (författare)
  • Evolutionary history of the extinct Sardinian dhole
  • 2021
  • Ingår i: Current biology : CB. - : Elsevier BV. - 1879-0445 .- 0960-9822. ; 31, s. 1-9
  • Tidskriftsartikel (refereegranskat)abstract
    • The Sardinian dhole (Cynotherium sardous)1 was an iconic and unique canid species that was endemic to Sardinia and Corsica until it became extinct at the end of the Late Pleistocene.2-5 Given its peculiar dental morphology, small body size, and high level of endemism, several extant canids have been proposed as possible relatives of the Sardinian dhole, including the Asian dhole and African hunting dog ancestor.3,6-9 Morphometric analyses3,6,8-12 have failed to clarify the evolutionary relationship with other canids.We sequenced the genome of a ca-21,100-year-old Sardinian dhole in order to understand its genomic history and clarify its phylogenetic position. We found that it represents a separate taxon from all other living canids from Eurasia, Africa, and North America, and that the Sardinian dhole lineage diverged from the Asian dhole ca 885 ka. We additionally detected historical gene flow between the Sardinian and Asian dhole lineages, which ended approximately 500-300 ka, when the land bridge between Sardinia and mainland Italy was already broken, severing their population connectivity. Our sample showed low genome-wide diversity compared to other extant canids-probably a result of the long-term isolation-that could have contributed to the subsequent extinction of the Sardinian dhole.
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22.
  • Cockerill, Christopher Alan, 1994-, et al. (författare)
  • Genomic Consequences of Fragmentation in the Endangered Fennoscandian Arctic Fox (Vulpes lagopus)
  • 2022
  • Ingår i: Genes. - : MDPI AG. - 2073-4425. ; 13:11
  • Tidskriftsartikel (refereegranskat)abstract
    • Accelerating climate change is causing severe habitat fragmentation in the Arctic, threatening the persistence of many cold-adapted species. The Scandinavian arctic fox (Vulpes lagopus) is highly fragmented, with a once continuous, circumpolar distribution, it struggled to recover from a demographic bottleneck in the late 19th century. The future persistence of the entire Scandinavian population is highly dependent on the northernmost Fennoscandian subpopulations (Scandinavia and the Kola Peninsula), to provide a link to the viable Siberian population. By analyzing 43 arctic fox genomes, we quantified genomic variation and inbreeding in these populations. Signatures of genome erosion increased from Siberia to northern Sweden indicating a stepping-stone model of connectivity. In northern Fennoscandia, runs of homozygosity (ROH) were on average ~1.47-fold longer than ROH found in Siberia, stretching almost entire scaffolds. Moreover, consistent with recent inbreeding, northern Fennoscandia harbored more homozygous deleterious mutations, whereas Siberia had more in heterozygous state. This study underlines the value of documenting genome erosion following population fragmentation to identify areas requiring conservation priority. With the increasing fragmentation and isolation of Arctic habitats due to global warming, understanding the genomic and demographic consequences is vital for maintaining evolutionary potential and preventing local extinctions.
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25.
  • Dalen, Love, et al. (författare)
  • Ancient DNA reveals lack of postglacial habitat tracking in the arctic fox
  • 2007
  • Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 0027-8424 .- 1091-6490. ; 104:16, s. 6726-6729
  • Tidskriftsartikel (refereegranskat)abstract
    • How species respond to an increased availability of habitat, for example at the end of the last glaciation, has been well established. In contrast, little is known about the opposite process, when the amount of habitat decreases. The hypothesis of habitat tracking predicts that species should be able to track both increases and decreases in habitat availability. The alternative hypothesis is that populations outside refugia become extinct during periods of unsuitable climate. To test these hypotheses, we used ancient DNA techniques to examine genetic variation in the arctic fox (Alopex lagopus) through an expansion/contraction cycle. The results show that the arctic fox in midlatitude Europe became extinct at the end of the Pleistocene and did not track the habitat when it shifted to the north. Instead, a high genetic similarity between the extant populations in Scandinavia and Siberia suggests an eastern origin for the Scandinavian population at the end of the last glaciation. These results provide new insights into how species respond to climate change, since they suggest that populations are unable to track decreases in habitat avaliability. This implies that arctic species may be particularly vulnerable to increases in global temperatures.
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26.
  • Dalén, Love, 1980-, et al. (författare)
  • Deep-time paleogenomics and the limits of DNA survival
  • 2023
  • Ingår i: Science. - 0036-8075 .- 1095-9203. ; 382:6666, s. 48-53
  • Tidskriftsartikel (refereegranskat)abstract
    • Although most ancient DNA studies have focused on the last 50,000 years, paleogenomic approaches can now reach into the early Pleistocene, an epoch of repeated environmental changes that shaped present-day biodiversity. Emerging deep-time genomic transects, including from DNA preserved in sediments, will enable inference of adaptive evolution, discovery of unrecognized species, and exploration of how glaciations, volcanism, and paleomagnetic reversals shaped demography and community composition. In this Review, we explore the state-of-the-art in paleogenomics and discuss key challenges, including technical limitations, evolutionary divergence and associated biases, and the need for more precise dating of remains and sediments. We conclude that with improvements in laboratory and computational methods, the emerging field of deep-time paleogenomics will expand the range of questions addressable using ancient DNA.
  •  
27.
  • Dalén, Love, 1975- (författare)
  • Distribution and abundance of genetic variation in the arctic fox
  • 2005
  • Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
    • This thesis investigates how changes in population size and spatial movements of individuals have shaped the distribution and abundance of neutral genetic variation in the arctic fox. This is done through mitochondrial and microsatellite DNA analyses on samples covering most of the species’ distribution, but with special emphasis on Scandinavia. On the species level, nucleotide diversity was relatively low, which indicated a historical expansion in population size in connection with the onset of the last Ice Age. It is thus possible that the glacial cycles have affected the arctic fox, and other cold-adapted species, in a way opposite to their effect on temperate species. Gene flow seemed to be high among arctic fox populations on a circumpolar scale, especially between populations where lemmings are the main food source, which could be explained by the spatial synchrony in lemming fluctuations. In Scandinavia, the arctic fox went through a severe demographic bottleneck in the beginning of the 20th century. Although some genetic variation was lost during this bottleneck, the loss was much smaller than expected, probably due to post-bottleneck gene flow from Russia. The arctic fox in Scandinavia is divided into four relatively isolated populations. Within each population, dispersal seemed to be high despite the high availability of empty territories close to natal dens, which supported the hypothesis that lemming fluctuations influence arctic fox dispersal. Genetic analyses on samples collected between 1989 and 2004 indicated an ongoing genetic drift and inbreeding within the Scandinavian populations. Furthermore, individual genetic variation was negatively associated with fitness, which could be attributed to an ongoing inbreeding depression. Analyses on faecal samples suggested that arctic foxes move higher up in the mountains and farther from the tree-line during summer compared to winter. This seasonal shift in distribution is probably caused by interspecific competition from the red fox, which is likely to be higher during summer due to red fox predation on arctic fox cubs. The results presented in this thesis have several implications for the conservation of the Scandinavian arctic fox. The finding of four isolated populations within Scandinavia and an ongoing inbreeding depression suggests that the risk of extinction is higher than previously thought. Conservation actions need to be taken in all populations to be effective, and could include genetic restoration through translocation.
  •  
28.
  • Dalén, Love, et al. (författare)
  • DNA analysis on fox faeces and competition induced niche shifts
  • 2004
  • Ingår i: Molecular Ecology. - 0962-1083 .- 1365-294X. ; 13:8, s. 2389-2392
  • Tidskriftsartikel (refereegranskat)abstract
    • Interference competition can force inferior competitors to change their distribution patterns. It is, however, possible that the dominant competitor poses a higher threat during certain times of the year, for example during reproduction. In such cases, the inferior competitor is expected to change its distribution accordingly. We used a molecular species identification method on faeces to investigate how the spatial overlap between arctic and red foxes changes between seasons. The results show that arctic and red foxes are sympatric during winter, but allopatric in summer as arctic foxes retreat to higher altitudes further from the tree-line during the breeding season
  •  
29.
  • Dalen, Love, et al. (författare)
  • Identifying Bird Remains Using Ancient DNA Barcoding
  • 2017
  • Ingår i: Genes. - : MDPI AG. - 2073-4425. ; 8:6
  • Tidskriftsartikel (refereegranskat)abstract
    • Bird remains that are difficult to identify taxonomically using morphological methods, are common in the palaeontological record. Other types of challenging avian material include artefacts and food items from endangered taxa, as well as remains from aircraft strikes. We here present a DNA-based method that enables taxonomic identification of bird remains, even from material where the DNA is heavily degraded. The method is based on the amplification and sequencing of two short variable parts of the 16S region in the mitochondrial genome. To demonstrate the applicability of this approach, we evaluated the method on a set of Holocene and Late Pleistocene postcranial bird bones from several palaeontological and archaeological sites in Europe with good success.
  •  
30.
  • Dalén, Love, et al. (författare)
  • Is the endangered Fennoscandian arctic fox (Alopex lagopus) population genetically isolated?
  • 2002
  • Ingår i: Biological Conservation. - 0006-3207 .- 1873-2917. ; 105:2, s. 171-178
  • Tidskriftsartikel (refereegranskat)abstract
    • The arctic fox population in Fennoscandia is on the verge of going extinct after not being able to recover from a severe bottleneck at the end of the 19th century. The Siberian arctic fox population, on the other hand, is large and unthreatened. In order to resolve questions regarding gene flow between, and genetic variation within the populations, a 294 bp long part of the mitochondrial hypervariable region 1 was sequenced. This was done for 17 Swedish, 15 Siberian and two farmed foxes. Twelve variable nucleotide sites were observed, which resulted in 10 different haplotypes. Three haplotypes were found in Sweden and seven haplotypes were found in Siberia. An analysis of molecular variance showed a weak, but significant, differentiation between the populations. No difference in haplotype diversity was found between the populations. A phylogenetic analysis revealed that the three Swedish haplotypes were not monophyletic compared to the Siberian haplotypes. These results indicate a certain amount of gene flow between the two populations. both before and after the bottleneck. Restocking the Fennoscandian population with arctic foxes from Siberia might therefore be a viable option.
  •  
31.
  •  
32.
  • Dalen, Love, et al. (författare)
  • Partial Genetic Turnover in Neandertals : Continuity in the East and Population Replacement in the West
  • 2012
  • Ingår i: Molecular biology and evolution. - : Oxford University Press (OUP). - 0737-4038 .- 1537-1719. ; 29:8, s. 1893-1897
  • Tidskriftsartikel (refereegranskat)abstract
    • Remarkably little is known about the population-level processes leading up to the extinction of the neandertal. To examine this, we use mitochondrial DNA sequences from 13 neandertal individuals, including a novel sequence from northern Spain, to examine neandertal demographic history. Our analyses indicate that recent western European neandertals (< 48 kyr) constitute a tightly defined group with low mitochondrial genetic variation in comparison with both eastern and older (> 48 kyr) European neandertals. Using control region sequences, Bayesian demographic simulations provide higher support for a model of population fragmentation followed by separate demographic trajectories in subpopulations over a null model of a single stable population. The most parsimonious explanation for these results is that of a population turnover in western Europe during early Marine Isotope Stage 3, predating the arrival of anatomically modern humans in the region.
  •  
33.
  • Dalén, Love, et al. (författare)
  • Population history and genetic structure of a circumpolar species : the arctic fox
  • 2005
  • Ingår i: Biological Journal of the Linnean Society. - : Oxford University Press (OUP). - 0024-4066 .- 1095-8312. ; 84:1, s. 79-89
  • Tidskriftsartikel (refereegranskat)abstract
    • The circumpolar arctic fox Alopex lagopus thrives in cold climates and has a high migration rate involving long-distance movements. Thus, it differs from many temperate taxa that were subjected to cyclical restriction in glacial refugia during the Ice Ages. We investigated population history and genetic structure through mitochondrial control region variation in 191 arctic foxes from throughout the arctic. Several haplotypes had a Holarctic distribution and no phylogeographical structure was found. Furthermore, there was no difference in haplotype diversity between populations inhabiting previously glaciated and unglaciated regions. This suggests current gene flow among the studied populations, with the exception of those in Iceland, which is surrounded by year-round open water. Arctic foxes have often been separated into two ecotypes: ‘lemming’ and ‘coastal’. An analysis of molecular variance suggested particularly high gene flow among populations of the ‘lemming’ ecotype. This could be explained by their higher migration rate and reduced fitness in migrants between ecotypes. A mismatch analysis indicated a sudden expansion in population size around 118 000 BP, which coincides with the last interglacial. We propose that glacial cycles affected the arctic fox in a way opposite to their effect on temperate species, with interglacials leading to short-term isolation in northern refugia.
  •  
34.
  • Dalén, Love, et al. (författare)
  • Population structure in a critically endangered arctic fox population : does genetics matter?
  • 2006
  • Ingår i: Molecular Ecology. - 0962-1083 .- 1365-294X. ; 15:10, s. 2809-2819
  • Tidskriftsartikel (refereegranskat)abstract
    • The arctic fox (Alopex lagopus) in Scandinavia is classified as critically endangered after having gone through a severe decline in population size in the beginning of the 20th century, from which it has failed to recover despite more than 65 years of protection. Arctic foxes have a high dispersal rate and often disperse over long distances, suggesting that there was probably little population differentiation within Scandinavia prior to the bottleneck. It is, however, possible that the recent decline in population size has led to a decrease in dispersal and an increase in population fragmentation. To examine this, we used 10 microsatellite loci to analyse genetic variation in 150 arctic foxes from Scandinavia and Russia. The results showed that the arctic fox in Scandinavia presently is subdivided into four populations, and that the Kola Peninsula and northwest Russia together form a large fifth population. Current dispersal between the populations seemed to be very low, but genetic variation within them was relatively high. This and the relative F-ST values among the populations are consistent with a model of recent fragmentation within Scandinavia. Since the amount of genetic variation is high within the populations, but the populations are small and isolated, demographic stochasticity seems to pose a higher threat to the populations' persistence than inbreeding depression and low genetic variation.
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35.
  •  
36.
  • Dalén, Lové, 1980-, et al. (författare)
  • Recovery of DNA from Footprints in the snow
  • 2008
  • Ingår i: Canadian field-naturalist. - OTTAWA, Canada : OTTAWA FIELD-NATURALISTS CLUB. - 0008-3550. ; 121:3, s. 321-324
  • Tidskriftsartikel (refereegranskat)abstract
    • The recovery of trace amounts of DNA has been demonstrated to be a reliable tool in conservation genetics and has become a key component of modern forensic casework. To date, genetic data have been successfully recovered from a variety of sources, including biological fluids, faeces, clothing, and even directly from fingerprints. However, to our knowledge and despite their widespread occurrence and clear potential as a source of DNA, genetic information has not previously been recovered directly from footprints. Here, we extract and amplify mitochondrial DNA from a snow footprint, <48-hours old, made by a Swedish Arctic Fox (Alopex lagopus). Our results demonstrate that it is possible to recover Sufficient DNA from recent footprints to accurately type the source of the print, with implications for conservation biology and forensic science.
  •  
37.
  • Dalén, Love, et al. (författare)
  • Recovery of DNA from Footprints in the Snow
  • 2007
  • Ingår i: Canadian field-naturalist. - 0008-3550. ; 121:3, s. 321-324
  • Tidskriftsartikel (refereegranskat)abstract
    • The recovery of trace amounts of DNA has been demonstrated to be a reliable tool in conservation genetics and has become a key component of modern forensic casework. To date, genetic data have been successfully recovered from a variety of sources, including biological fluids, faeces, clothing, and even directly from fingerprints. However, to our knowledge and despite their widespread occurrence and clear potential as a source of DNA, genetic information has not previously been recovered directly from footprints. Here, we extract and amplify mitochondrial DNA from a snow footprint, <48-hours old, made by a Swedish Arctic Fox (Alopex lagopus). Our results demonstrate that it is possible to recover Sufficient DNA from recent footprints to accurately type the source of the print, with implications for conservation biology and forensic science.
  •  
38.
  • Dalerum, Fredrik, et al. (författare)
  • Exploring the diet of arctic wolves (Canis lupus arctos) at their northern range limit
  • 2018
  • Ingår i: Canadian Journal of Zoology. - : Canadian Science Publishing. - 0008-4301 .- 1480-3283. ; 96:3, s. 277-281
  • Tidskriftsartikel (refereegranskat)abstract
    • The grey wolf (Canis lupus Linnaeus, 1758) is one of the most widespread large carnivores on Earth, and occurs throughout the Arctic. Although wolf diet is well studied, we have scant information from high Arctic areas. Global warming is expected to increase the importance of predation for ecosystem regulation in Arctic environments. To improve our ability to manage Arctic ecosystems under environmental change, we therefore need knowledge about Arctic predator diets. Prey remains in 54 wolf scats collected at three sites in the high Arctic region surrounding the Hall Basin (Judge Daly Promontory, Ellesmere Island, Canada, and Washington Land and Hall Land, both in northwestern Greenland) pointed to a dietary importance of arctic hare (Lepus arcticus Ross, 1819; 55% frequency of occurrence) and muskoxen (Ovibos moschatus (Zimmermann, 1780); 39% frequency of occurrence), although we observed diet variation among the sites. A literature compilation suggested that arctic wolves (Canis lupus arctos Pocock, 1935) preferentially feed on caribou (Rangifer tarandus (Linnaeus, 1758)) and muskoxen, but can sustain themselves on arctic hares and Greenland collared lemmings (Dicrostonyx groenlandicus (Traill, 1823)) in areas with limited or no ungulate populations. We suggest that climate change may alter the dynamics among wolves, arctic hare, muskoxen, and caribou, and we encourage further studies evaluating how climate change influences predator-prey interactions in high Arctic environments.
  •  
39.
  • Dalerum, Fredrik, et al. (författare)
  • Spatial variation in Arctic hare (Lepus arcticus) populations around the Hall Basin
  • 2017
  • Ingår i: Polar Biology. - : Springer Science and Business Media LLC. - 0722-4060 .- 1432-2056. ; 40:10, s. 2113-2118
  • Tidskriftsartikel (refereegranskat)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.
  •  
40.
  • Dehasque, Marianne, et al. (författare)
  • Combining Bayesian age models and genetics to investigate population dynamics and extinction of the last mammoths in northern Siberia
  • 2021
  • Ingår i: Quaternary Science Reviews. - : Elsevier BV. - 0277-3791 .- 1873-457X. ; 259
  • Tidskriftsartikel (refereegranskat)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.
  •  
41.
  • Dehasque, Marianne, et al. (författare)
  • Development and Optimization of a Silica Column-Based Extraction Protocol for Ancient DNA
  • 2022
  • Ingår i: Genes. - : MDPI AG. - 2073-4425. ; 13:4
  • Tidskriftsartikel (refereegranskat)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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42.
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43.
  • Dehasque, Marianne, et al. (författare)
  • Inference of natural selection from ancient DNA
  • 2020
  • Ingår i: Evolution Letters. - : JOHN WILEY & SONS LTD. - 2056-3744. ; 4:2, s. 94-108
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
    • Evolutionary processes, including selection, can be indirectly inferred based on patterns of genomic variation among contemporary populations or species. However, this often requires unrealistic assumptions of ancestral demography and selective regimes. Sequencing ancient DNA from temporally spaced samples can inform about past selection processes, as time series data allow direct quantification of population parameters collected before, during, and after genetic changes driven by selection. In this Comment and Opinion, we advocate for the inclusion of temporal sampling and the generation of paleogenomic datasets in evolutionary biology, and highlight some of the recent advances that have yet to be broadly applied by evolutionary biologists. In doing so, we consider the expected signatures of balancing, purifying, and positive selection in time series data, and detail how this can advance our understanding of the chronology and tempo of genomic change driven by selection. However, we also recognize the limitations of such data, which can suffer from postmortem damage, fragmentation, low coverage, and typically low sample size. We therefore highlight the many assumptions and considerations associated with analyzing paleogenomic data and the assumptions associated with analytical methods.
  •  
44.
  • Dehasque, Marianne, 1993- (författare)
  • Palaeogenomic reconstruction of woolly mammoth evolutionary history and extinction dynamics
  • 2023
  • Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
    • Biodiversity is declining globally. Yet, the biological and genetic processes associated with these declines on a longer timescale are still poorly understood. Ancient DNA is a powerful tool to study evolution in real-time. Despite advances in the field, there is further need for refinement of laboratory and computational techniques. In this thesis, I used mitochondrial and nuclear genomes, as well as radiocarbon data, to study the evolutionary history and extinction dynamics of the woolly mammoth (Mammuthus primigenius). In Chapter I, I developed and optimized a silica column-based extraction protocol for ancient DNA. Based on systematic tests, I advise against routine use of pretreatment methods, like bleach wash and/or predigestion, for well-preserved permafrost samples. Furthermore, I suggest that USER enzyme, which removes uracil from damaged DNA molecules, is effective at half the concentration compared to an established control protocol. Finally, I did not find a significant difference between different silica columns for the clean-up steps, or concentrator columns with different DNA retention sizes. In Chapter II, I used five high coverage Siberian mammoth genomes to develop a method based on differences in read depth to identify indels, insertions and deletions, in the mammoth genome. The results show that indels are enriched in intergenic regions, suggesting strong selection against structural variants affecting gene function. Nevertheless, 87 genes were identified that were severely affected. These genes are related to various functions like body-fat distribution, fur growth and hair shape, body temperature, and body size, and most likely represent important adaptations to the cold steppe-tundra. In Chapter III, I studied the population and extinction dynamics of the woolly mammoths in Siberia by combining Bayesian age models from radiocarbon data with inferences from complete mitogenomes. The results show that the woolly mammoth’s extinction was a complex process with consecutive extirpations, but also partial recolonizations, occurring in different Siberian localities. I hypothesize that Wrangel Island, one of the last refugia of the woolly mammoth, was colonized by mammoths from, or closely related to, a population from central or western Siberia. Mammoths reappeared on the island around 10 ky ago, where they became isolated due to rising sea levels, and went extinct around 4 ky ago. To investigate the genetic consequences of the founder bottleneck event of Wrangel Island and long-term survival at small population size, I analyzed time-series data of 21 woolly mammoth genomes in Chapter IV. Changes in heterozygosity and inbreeding show that while the initial bottleneck was dramatic, the population recovered fast and remained remarkably stable. Analysis of mutation load shows that mammoths purged highly deleterious mutations over time, but also accumulated slightly deleterious mutations, indicating reduced efficacy of selection. Nevertheless, there were no clear signs of a mutational meltdown, and it remains a mystery why mammoths went extinct on the island. In conclusion, this thesis presents methodological advances for DNA extraction and detecting structural variants (i.e., deletions) in ancient genomes. Furthermore, I demonstrate that extinctions are a complex process. Finally, I show that ancient DNA is a powerful tool to study evolutionary processes over long timescales.
  •  
45.
  • Dehasque, Marianne, et al. (författare)
  • Temporal dynamics of woolly mammoth genome erosion prior to extinction
  • Annan publikation (övrigt vetenskapligt/konstnärligt)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.
  •  
46.
  •  
47.
  • Díez-del-Molino, David, 1984-, et al. (författare)
  • Genomics of adaptive evolution in the woolly mammoth
  • 2023
  • Ingår i: Current Biology. - 0960-9822 .- 1879-0445. ; 33:9, s. 1753-1764
  • Tidskriftsartikel (refereegranskat)abstract
    • Ancient genomes provide a tool to investigate the genetic basis of adaptations in extinct organisms. However, the identification of species-specific fixed genetic variants requires the analysis of genomes from multiple individuals. Moreover, the long-term scale of adaptive evolution coupled with the short-term nature of tradi-tional time series data has made it difficult to assess when different adaptations evolved. Here, we analyze 23 woolly mammoth genomes, including one of the oldest known specimens at 700,000 years old, to identify fixed derived non-synonymous mutations unique to the species and to obtain estimates of when these mutations evolved. We find that at the time of its origin, the woolly mammoth had already acquired a broad spectrum of positively selected genes, including ones associated with hair and skin development, fat storage and metabolism, and immune system function. Our results also suggest that these phenotypes continued to evolve during the last 700,000 years, but through positive selection on different sets of genes. Finally, we also identify additional genes that underwent comparatively recent positive selection, including multiple genes related to skeletal morphology and body size, as well as one gene that may have contributed to the small ear size in Late Quaternary woolly mammoths.
  •  
48.
  • Díez-del-Molino, David, et al. (författare)
  • Population genomics reveals lack of greater white-fronted introgression into the Swedish lesser white-fronted goose
  • 2020
  • Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 10:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Interspecific introgression is considered a potential threat to endangered taxa. One example where this has had a major impact on conservation policy is the lesser white-fronted goose (LWfG). After a dramatic decline in Sweden, captive breeding birds were released between 1981–1999 with the aim to reinforce the population. However, the detection of greater white-fronted goose (GWfG) mitochondrial DNA in the LWfG breeding stock led to the release program being dismantled, even though the presence of GWfG introgression in the actual wild Swedish LWfG population was never documented. To examine this, we sequenced the complete genomes of 21 LWfG birds from the Swedish, Russian and Norwegian populations, and compared these with genomes from other goose species, including the GWfG. We found no evidence of interspecific introgression into the wild Swedish LWfG population in either nuclear genomic or mitochondrial data. Moreover, Swedish LWfG birds are genetically distinct from the Russian and Norwegian populations and display comparatively low genomic diversity and high levels of inbreeding. Our findings highlight the utility of genomic approaches in providing scientific evidence that can help improve conservation management as well as policies for breeding and reinforcement programmes.
  •  
49.
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50.
  • Diez-del-Molino, David, et al. (författare)
  • Unroll Please : Deciphering the Genetic Code in Scrolls and Other Ancient Materials
  • 2020
  • Ingår i: Cell. - : Elsevier BV. - 0092-8674 .- 1097-4172. ; 181:6, s. 1200-1201
  • Tidskriftsartikel (refereegranskat)abstract
    • The unrelenting development of ancient DNA methods now allows researchers to obtain archaeogenetic data from increasingly diverse sources. In a new study in this issue of Cell, researchers apply the latest DNA technologies to unravel the mysteries of the Dead Sea Scrolls, one of the world’s most famous and influential sets of ancient parchments.
  •  
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