32 results on '"Ratkiewicz M"'
Search Results
2. Allozyme and mitochondrial DNA analysis of French red deer (Cervus elaphus) populations: genetic structure and its implications for management and conservation
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Hartl, G. B., Zachos, F. E., Nadlinger, K., Ratkiewicz, M., Klein, F., and Lang, G.
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- 2005
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3. The evolutionary history of the two karyotypic groups of the common shrew, Sorex araneus, in Poland
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Ratkiewicz, M., Fedyk, S., Banaszek, A., Gielly, L., Chetnicki, W., Jadwiszczak, K., and Taberlet, P.
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Shrews -- Distribution ,Cytochrome b -- Genetic aspects ,Chromosomes -- Identification and classification ,Evolution -- Genetic aspects ,Biological sciences - Abstract
The cytochrome b gene sequence analysis of the two karyotypic groups and five chromosome races of the Sorex araneus reveals 21 distinct haplotypes with a sequence divergence of 0.88%. High haplotype diversity is associated with high heterozygosity values in nuclear genes. Data suggest an ancestral acrocentric distribution of Robertsonian fusions.
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- 2002
4. High levels of population differentiation in Eurasian lynx at the edge of the species' western range in Europe revealed by mitochondrial DNA analyses
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Ratkiewicz, M., primary, Matosiuk, M., additional, Kowalczyk, R., additional, Konopiński, M. K., additional, Okarma, H., additional, Ozolins, J., additional, Männil, P., additional, Ornicans, A., additional, and Schmidt, K., additional
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- 2012
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5. Population structure, colonization processes and barriers for dispersal in Polish common hamsters (Cricetus cricetus)
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Banaszek, A., primary, Jadwiszczak, K. A., additional, Ratkiewicz, M., additional, Ziomek, J., additional, and Neumann, K., additional
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- 2010
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6. Promiscuity, male reproductive success and mate relatedness in a natural population of the common vole
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Borkowska, A., primary and Ratkiewicz, M., additional
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- 2010
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7. Isolation and characterization of polymorphic microsatellite loci in the field vole, Microtus agrestis, and their cross-utility in the common vole, Microtus arvalis
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JAAROLA, M., primary, RATKIEWICZ, M., additional, ASHFORD, R. T., additional, BRUNHOFF, C., additional, and BORKOWSKA, A., additional
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- 2007
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8. Genetic diversity, stability of population structure and barriers to gene flow in a hybrid zone between two Sorex araneus chromosome races
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RATKIEWICZ, M., primary, BANASZEK, A., additional, JADWISZCZAK, K., additional, CHĘTNICKI, W., additional, and FEDYK, S., additional
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- 2003
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9. Spatial genetic structure and clonal diversity of island populations of lady's slipper (Cypripedium calceolus) from the Biebrza National Park (northeast Poland)
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Brzosko, E., primary, Wróblewska, A., additional, and Ratkiewicz, M., additional
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- 2002
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10. Genetic diversity, stability of population structure and barriers to gene flow in a hybrid zone between two Sorex araneuschromosome races
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RATKIEWICZ, M., BANASZEK, A., JADWISZCZAK, K., CHĘTNICKI, W., and FEDYK, S.
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- 2003
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11. Allozyme differentiation and genetic structure of the Lady's slipper (Cypripedium calceolus) island populations in north-east Poland
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Brzosko, E., Ratkiewicz, M., and WRÓBLEWSKA, A.
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- 2002
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12. Allopatric origins of sympatric forms: The skippers Carterocephalus palaemon palaemon, C. p. tolli and C. silvicolus
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Ratkiewicz, M. and Bogdan Jaroszewicz
13. Contrasting genetic structure of rear edge and continuous range populations of a parasitic butterfly infected by Wolbachia
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Patricelli Dario, Sielezniew Marcin, Ponikwicka-Tyszko Donata, Ratkiewicz Mirosław, Bonelli Simona, Barbero Francesca, Witek Magdalena, Buś Magdalena M, Rutkowski Robert, and Balletto Emilio
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Maculinea arion ,Wolbachia ,Rear edge ,COI ,EF-1α ,Evolution ,QH359-425 - Abstract
Abstract Background Climatic oscillations are among the long-term factors shaping the molecular features of animals and plants and it is generally supposed that the rear edges (i.e., the low-latitude limits of distribution of any given specialised species) situated closer to glacial refugia are vital long-term stores of genetic diversity. In the present study, we compared the genetic structure of several populations of an endangered and obligate myrmecophilous butterfly (Maculinea arion) from two distinct and geographically distant parts of its European distribution (i.e., Italy and Poland), which fully represent the ecological and morphological variation occurring across the continent. Results We sequenced the COI mitochondrial DNA gene (the ‘barcoding gene’) and the EF-1α nuclear gene and found substantial genetic differentiation among M. arion Italian populations in both markers. Eleven mtDNA haplotypes were present in Italy. In contrast, almost no mtDNA polymorphisms was found in the Polish M. arion populations, where genetic differentiation at the nuclear gene was low to moderate. Interestingly, the within-population diversity levels in the EF-1α gene observed in Italy and in Poland were comparable. The genetic data did not support any subspecies divisions or any ecological specialisations. All of the populations studied were infected with a single strain of Wolbachia and our screening suggested 100% prevalence of the bacterium. Conclusions Differences in the genetic structure of M. arion observed in Italy and in Poland may be explained by the rear edge theory. Although we were not able to pinpoint any specific evolutionarily significant units, we suggest that the Italian peninsula should be considered as a region of special conservation concern and one that is important for maintaining the genetic diversity of M. arion in Europe. The observed pattern of mtDNA differentiation among the populations could not be explained by an endosymbiotic infection.
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- 2013
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14. Genome-environment association analyses reveal geographically restricted adaptive divergence across the range of the widespread Eurasian carnivore Lynx lynx (Linnaeus, 1758).
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Bazzicalupo E, Ratkiewicz M, Seryodkin IV, Okhlopkov I, Galsandorj N, Yarovenko YA, Ozolins J, Saveljev AP, Melovski D, Gavashelishvili A, Schmidt K, and Godoy JA
- Abstract
Local adaptations to the environment are an important aspect of the diversity of a species and their discovery, description and quantification has important implications for the fields of taxonomy, evolutionary and conservation biology. In this study, we scan genomes from several populations across the distributional range of the Eurasian lynx, with the objective of finding genomic windows under positive selection which may underlie local adaptations to different environments. A total of 394 genomic windows are found to be associated to local environmental conditions, and they are enriched for genes involved in metabolism, behaviour, synaptic organization and neural development. Adaptive genetic structure, reconstructed from SNPs in candidate windows, is considerably different than the neutral genetic structure of the species. A widespread adaptively homogeneous group is recovered occupying areas of harsher snow and temperature climatic conditions in the north-western, central and eastern parts of the distribution. Adaptively divergent populations are recovered in the westernmost part of the range, especially within the Baltic population, but also predicted for different patches in the western and southern part of the range, associated with different snow and temperature regimes. Adaptive differentiation driven by climate does not correlate much with the subspecies taxonomic delimitations, suggesting that subspecific divergences are mostly driven by neutral processes of genetic drift and gene flow. Our results will aid the selection of source populations for assisted gene flow or genetic rescue programs by identifying what climatic patterns to look for as predictors of pre-adaptation of individuals. Particularly, the Carpathian population is confirmed as the best source of individuals for the genetic rescue of the endangered, isolated and genetically eroded Balkan population. Additionally, reintroductions in central and western Europe, currently based mostly on Carpathian lynxes, could consider the Baltic population as an additional source to increase adaptive variation and likely improve adaptation to their milder climate., Competing Interests: The authors declare no conflicts of interest., (© 2023 The Authors. Evolutionary Applications published by John Wiley & Sons Ltd.)
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- 2023
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15. Phylogeny and evolution of the genus Cervus (Cervidae, Mammalia) as revealed by complete mitochondrial genomes.
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Mackiewicz P, Matosiuk M, Świsłocka M, Zachos FE, Hajji GM, Saveljev AP, Seryodkin IV, Farahvash T, Rezaei HR, Torshizi RV, Mattioli S, and Ratkiewicz M
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- Animals, DNA, Mitochondrial genetics, Mitochondrial Proteins genetics, Phylogeny, Sequence Analysis, DNA, Deer genetics, Genome, Mitochondrial genetics
- Abstract
Mitochondrial DNA (mtDNA) lineages are recognized as important components of intra- and interspecific biodiversity, and allow to reveal colonization routes and phylogeographic structure of many taxa. Among these is the genus Cervus that is widely distributed across the Holarctic. We obtained sequences of complete mitochondrial genomes from 13 Cervus taxa and included them in global phylogenetic analyses of 71 Cervinae mitogenomes. The well-resolved phylogenetic trees confirmed Cervus to be monophyletic. Molecular dating based on several fossil calibration points revealed that ca. 2.6 Mya two main mitochondrial lineages of Cervus separated in Central Asia, the Western (including C. hanglu and C. elaphus) and the Eastern (comprising C. albirostris, C. canadensis and C. nippon). We also observed convergent changes in the composition of some mitochondrial genes in C. hanglu of the Western lineage and representatives of the Eastern lineage. Several subspecies of C. nippon and C. hanglu have accumulated a large portion of deleterious substitutions in their mitochondrial protein-coding genes, probably due to drift in the wake of decreasing population size. In contrast to previous studies, we found that the relic haplogroup B of C. elaphus was sister to all other red deer lineages and that the Middle-Eastern haplogroup E shared a common ancestor with the Balkan haplogroup C. Comparison of the mtDNA phylogenetic tree with a published nuclear genome tree may imply ancient introgressions of mtDNA between different Cervus species as well as from the common ancestor of South Asian deer, Rusa timorensis and R. unicolor, to the Cervus clade., (© 2022. The Author(s).)
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- 2022
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16. Purging of deleterious burden in the endangered Iberian lynx.
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Kleinman-Ruiz D, Lucena-Perez M, Villanueva B, Fernández J, Saveljev AP, Ratkiewicz M, Schmidt K, Galtier N, García-Dorado A, and Godoy JA
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- Animals, Biological Evolution, Genetic Variation, Genetics, Population, Inbreeding, Mutation, Polymorphism, Single Nucleotide, Endangered Species, Lynx genetics
- Abstract
SignificanceThe dynamics of deleterious variation under contrasting demographic scenarios remain poorly understood in spite of their relevance in evolutionary and conservation terms. Here we apply a genomic approach to study differences in the burden of deleterious alleles between the endangered Iberian lynx ( Lynx pardinus ) and the widespread Eurasian lynx ( Lynx lynx ). Our analysis unveils a significantly lower deleterious burden in the former species that should be ascribed to genetic purging, that is, to the increased opportunities of selection against recessive homozygotes due to the inbreeding caused by its smaller population size, as illustrated by our analytical predictions. This research provides theoretical and empirical evidence on the evolutionary relevance of genetic purging under certain demographic conditions.
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- 2022
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17. Simultaneous Infection of Elaphostrongylus Nematode Species and Parasite Sharing between Sympatrically Occurring Cervids: Moose, Roe Deer, and Red Deer in Poland.
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Świsłocka M, Ratkiewicz M, and Borkowska A
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It is important to assess the distribution of parasite species across wildlife populations, to design strategies for game management and effective disease control in nature. In this project we quantified the prevalence of Elaphostrongylus species in eight moose populations. We used molecular methods for identification of parasite species and host individual genotypes from fecal samples. We also demonstrated sharing of parasite species between three cervid hosts sympatrically occurring in the Biebrza River valley, North-Eastern Poland, which is occupied by the largest autochthonous, non-harvested moose population in Central Europe. Nematode species from the genus Elaphostrongylus are ubiquitous in the studied moose populations. The presence of a single parasite species (e.g., E. alces ) in moose individuals was more common than simultaneous infection with E. alces and E. cervi . The prevalence of both E. alces and E. cervi was higher in males than females. The distribution of E. alces and E. cervi prevalence in moose, roe deer, and red deer were in accordance with the membership of a host to a subfamily. Simultaneous occurrences of both Elaphostrongylus species were significantly more frequently noted in red deer fecal samples than those collected from moose or roe deer. Thus, we consider red deer to play a dominant role in sharing of those nematodes to other cervids. Our findings promote applications of molecular methods of identifying parasite species and the assessment of the exchange of parasite community between wild ruminant species in management and health monitoring of game animal populations.
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- 2021
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18. Sex-biased polyparasitism in moose ( Alces alces ) based on molecular analysis of faecal samples.
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Świsłocka M, Borkowska A, Matosiuk M, Czajkowska M, Duda N, Kowalczyk R, and Ratkiewicz M
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Simultaneous infection with multiple parasite species in an individual host is often observed in wild populations. The understanding of parasite species distribution across populations of wild animals is of basic and applied importance, because parasites can have pronounced effects on the dynamics of host population. Here, we quantified prevalence and endoparasite species richness in moose and explored sex-biased polyparasitism using diagnostic PCR method coupled with DNA sequencing of moose faecal samples from the Biebrza River valley, North-Eastern Poland. This is the largest moose population in Central Europe that has not been harvested for almost 20 years. We also evaluated the appropriate quantity of faeces for detecting DNA of parasite species. Faecal samples were screened for molecular markers of 10 different species of endoparasites. Endoparasite prevalence was high in the studied population. Almost all of the samples (98%) tested positive for at least one parasite species, and we found polyparasitism in the majority of the tested individuals. The number of different parasite species found in a single individual ranged from 0 to 9. The parasite species richness was significantly higher in male than in female individuals. The most prevalent were liver fluke Parafasciolopsis fasciolaemorpha and gastrointestinal nematodes Ostertargia sp. Of the ten endoparasite species detected, only the prevalence of the tapeworm Moniezia benedeni was significantly higher in males than in females. Additionally, we identified co-occurrence associations of parasite species, which tended to be random, but we noted some evidence of both positive and negative associations. Our findings promote applications of molecular methods for parasite species identification from non-invasively collected faecal samples in management and scientific study of moose population, which should include investigation of parasite status, and in health monitoring programs for other wild cervids., (© 2020 The Authors.)
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- 2020
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19. Nontypeable Haemophilus influenzae Type IV Pilus Mediates Augmented Adherence to Rhinovirus-Infected Human Airway Epithelial Cells.
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Toone SL, Ratkiewicz M, Novotny LA, Phong BL, and Bakaletz LO
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- Adhesins, Bacterial genetics, Antibodies, Neutralizing pharmacology, Antigens, CD genetics, Antigens, CD immunology, Cell Adhesion Molecules antagonists & inhibitors, Cell Adhesion Molecules genetics, Cell Adhesion Molecules immunology, Epithelial Cells microbiology, Epithelial Cells virology, Fimbriae Proteins genetics, Gene Expression Regulation immunology, Haemophilus influenzae growth & development, Host-Pathogen Interactions genetics, Humans, Intercellular Adhesion Molecule-1 genetics, Intercellular Adhesion Molecule-1 immunology, Primary Cell Culture, Protein Binding, RNA, Messenger antagonists & inhibitors, RNA, Messenger genetics, RNA, Messenger immunology, Respiratory Mucosa immunology, Respiratory Mucosa microbiology, Respiratory Mucosa virology, Rhinovirus growth & development, Signal Transduction, Adhesins, Bacterial immunology, Bacterial Adhesion immunology, Epithelial Cells immunology, Fimbriae Proteins immunology, Haemophilus influenzae immunology, Host-Pathogen Interactions immunology, Rhinovirus immunology
- Abstract
Human rhinovirus (hRV) is frequently detected in the upper respiratory tract, and symptomatic infection is associated with an increased nasopharyngeal bacterial load, with subsequent development of secondary bacterial diseases. Nontypeable Haemophilus influenzae (NTHI) is a commensal bacterial species of the human nasopharynx; however, in the context of prior or concurrent upper respiratory tract viral infection, this bacterium commonly causes multiple diseases throughout the upper and lower respiratory tracts. The present study was conducted to determine the mechanism(s) by which hRV infection promotes the development of NTHI-induced diseases. We showed that hRV infection of polarized primary human airway epithelial cells resulted in increased adherence of NTHI, due in part to augmented expression of CEACAM1 and ICAM1, host cell receptors to which NTHI binds via engagement of multiple adhesins. Antibody blockade of these host cell receptors significantly reduced NTHI adherence. With a specific focus on the NTHI type IV pilus (T4P), which we have previously shown binds to ICAM1, an essential adhesin and virulence determinant, we next showed that T4P-directed antibody blockade significantly reduced NTHI adherence to hRV-infected airway cells and, further, that expression of this adhesin was required for the enhanced adherence observed. Collectively, these data provide a mechanism by which "the common cold" promotes diseases due to NTHI, and they add further support for the use of PilA (the majority subunit of T4P) as a vaccine antigen, since antibodies directed against PilA are expected to limit the notably increased bacterial load associated with hRV coinfection and thereby to prevent secondary NTHI-induced diseases of the respiratory tract., (Copyright © 2020 American Society for Microbiology.)
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- 2020
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20. The level of habitat patchiness influences movement strategy of moose in Eastern Poland.
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Borowik T, Ratkiewicz M, Maślanko W, Duda N, and Kowalczyk R
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- Animals, Europe, Female, Forests, Geography, Male, Seasons, Temperature, Time Factors, Animal Migration physiology, Deer physiology, Ecosystem, Movement physiology
- Abstract
Spatio-temporal variation in resource availability leads to a variety of animal movement strategies. In the case of ungulates, temporally unpredictable landscapes are associated with nomadism, while high predictability in the resource distribution favours migratory or sedentary behaviours depending on the spatial and temporal scale of landscape dynamics. As most of the surveys on moose (Alces alces) movement behaviours in Europe have been conducted on Scandinavian populations, little is known about the movement strategies of moose at the southern edge of the species' range. We expected that decreasing habitat patchiness in central Europe would be associated with the prevalence of migratory behaviours. To verify this hypothesis, we analysed 32 moose fitted with GPS collars from two study areas in eastern Poland which differed in a level of habitat patchiness. We classified moose movements using the net squared displacement method. As presumed, lower patchiness in the Biebrza study site was associated with the predominance of individuals migrating short-distance, while in more patchy landscape of Polesie, resident moose dominated. At the individual level, the propensity of moose to migrate decreased with increasing abundance of forest habitats in their summer ranges. In addition, the parameters (migration distance, timing and duration) for migratory individuals varied substantially between individuals and years. Yet, in spring individual moose expressed a consistent migration timing across years. There was little synchronization of migration timing between individuals from the same population both in spring and autumn, which may have been related to mild weather conditions. We observed that moose postponed their migrations and started movement toward summer ranges at a similar time window in years when spring was delayed due to harsh weather. Hence, in light of global warming, we presume further changes in animal movements will arise., Competing Interests: The authors have declared that no competing interests exist.
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- 2020
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21. Patterns of parasite eggs, oocysts and larvae shedding by moose in the Biebrza marshland (NE Poland).
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Filip-Hutsch K, Czopowicz M, Świsłocka M, Ratkiewicz M, Borkowska A, Kowalczyk R, and Demiaszkiewicz AW
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The study analyses patterns of endoparasite eggs, oocysts and larvae shedding by moose from the relict population in the Biebrza marshland, NE Poland, which has grown to be one of the largest in Central Europe since the ban on hunting imposed in 2001. The analysis identified 10 species or groups of parasites among 230 faecal moose samples collected over 16 consequent months. The most prevalent were the eggs of Trichostrongylidae, Trichuris spp., Nematodirella alcidis , Parafasciolopsis fasciolaemorpha and the larvae of Elaphostrongylus sp. Four parasite species were more prevalent in males, indicating male-biased parasitism, and the studied moose population exhibited a female-skewed sex ratio. Nematodirella alcidis eggs and Protostrongylid larvae were more prevalent during winter, which indicated their resistance to harsh weather conditions. The prevalence of Eimeria alces and Aonchotheca sp. increased during the growing season, as did the number of eggs per gram of faeces (EPG) of P. fasciolaemorpha , possibly due to the availability of water sources. Higher mean monthly temperature was also found to have a positive effect on the excretion of Trichostrongylidae and Moniezia spp. eggs. In addition, the time of infection and the specificity of the parasite life cycle, being sensitive to certain climatic conditions, also appeared to have a strong influence on eggs, oocysts and larvae shedding in this non-harvested moose population., Competing Interests: None., (© 2020 The Authors.)
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- 2020
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22. Genomic patterns in the widespread Eurasian lynx shaped by Late Quaternary climatic fluctuations and anthropogenic impacts.
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Lucena-Perez M, Marmesat E, Kleinman-Ruiz D, Martínez-Cruz B, Węcek K, Saveljev AP, Seryodkin IV, Okhlopkov I, Dvornikov MG, Ozolins J, Galsandorj N, Paunovic M, Ratkiewicz M, Schmidt K, and Godoy JA
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- Animals, DNA, Mitochondrial genetics, Ecosystem, Endangered Species, Europe, Genetic Drift, Humans, Phylogeny, Sequence Analysis, DNA, Biological Evolution, Genome genetics, Genomics, Lynx genetics
- Abstract
Disentangling the contribution of long-term evolutionary processes and recent anthropogenic impacts to current genetic patterns of wildlife species is key to assessing genetic risks and designing conservation strategies. Here, we used 80 whole nuclear genomes and 96 mitogenomes from populations of the Eurasian lynx covering a range of conservation statuses, climatic zones and subspecies across Eurasia to infer the demographic history, reconstruct genetic patterns, and discuss the influence of long-term isolation and/or more recent human-driven changes. Our results show that Eurasian lynx populations shared a common history until 100,000 years ago, when Asian and European populations started to diverge and both entered a period of continuous and widespread decline, with western populations, except Kirov, maintaining lower effective sizes than eastern populations. Population declines and increased isolation in more recent times probably drove the genetic differentiation between geographically and ecologically close westernmost European populations. By contrast, and despite the wide range of habitats covered, populations are quite homogeneous genetically across the Asian range, showing a pattern of isolation by distance and providing little genetic support for the several proposed subspecies. Mitogenomic and nuclear divergences and population declines starting during the Late Pleistocene can be mostly attributed to climatic fluctuations and early human influence, but the widespread and sustained decline since the Holocene is more probably the consequence of anthropogenic impacts which intensified in recent centuries, especially in western Europe. Genetic erosion in isolated European populations and lack of evidence for long-term isolation argue for the restoration of lost population connectivity., (© 2020 The Authors. Molecular Ecology published by John Wiley & Sons Ltd.)
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- 2020
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23. Genetic differentiation and asymmetric gene flow among Carpathian brown bear ( Ursus arctos ) populations-Implications for conservation of transboundary populations.
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Matosiuk M, Śmietana W, Czajkowska M, Paule L, Štofik J, Krajmerová D, Bashta AT, Jakimiuk S, and Ratkiewicz M
- Abstract
The abundance and distribution of large carnivores in Europe have been historically reduced. Their recovery requires multilevel coordination, especially regarding transboundary populations. Here, we apply nuclear and mitochondrial genetic markers to test for admixture level and its impact on population genetic structure of contemporary brown bears ( Ursus arctos ) from the Eastern, Southern, and Western Carpathians. Carpathian Mountains (Europe). Nearly 400 noninvasive brown bear DNA samples from the Western (Poland) and Eastern Carpathians (Bieszczady Mountains in Poland, Slovakia, Ukraine) were collected. Together with DNA isolates from Slovakia and Romania, they were analyzed using the set of eight microsatellite loci and two mtDNA regions (control region and cytochrome b ). A set of 113 individuals with complete genotypes was used to investigate genetic differentiation across national boundaries, genetic structuring within and between populations, and movement between populations. Transboundary brown bear subpopulations (Slovakia and Poland) did not show significant internal genetic structure, and thus were treated as cohesive units. All brown bears from the Western Carpathians carried mitochondrial haplotypes from the Eastern lineage, while the Western lineage prevailed in the brown bears from the Bieszczady Mountains. Despite similar levels of microsatellite variability, we documented significant differentiation among the studied populations for nuclear markers and mtDNA. We also detected male-biased and asymmetrical movement into the Bieszczady Mountains population from the Western Carpathians. Our findings suggest initial colonization of the Western Carpathians by brown bears possessing mtDNA from the Eastern lineage. Genetic structuring among populations at microsatellite loci could be a result of human-mediated alterations. Detected asymmetric gene flow suggests ongoing expansion from more abundant populations into the Bieszczady Mountains and thus supports a metapopulation model. The knowledge concerning this complex pattern can be implemented in a joint Carpathian brown bear management plan that should allow population mixing by dispersing males.
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- 2019
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24. Role of CFTR mutation analysis in the diagnostic algorithm for cystic fibrosis.
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Ratkiewicz M, Pastore M, McCoy KS, Thompson R, Hayes D Jr, and Sheikh SI
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- Adolescent, Adult, Aged, Child, Chlorides analysis, DNA Mutational Analysis, Databases, Factual, Female, Genetic Testing methods, Humans, Male, Middle Aged, Phenotype, Retrospective Studies, Sensitivity and Specificity, Young Adult, Algorithms, Cystic Fibrosis genetics, Cystic Fibrosis physiopathology, Cystic Fibrosis Transmembrane Conductance Regulator genetics, Gene Expression Regulation, Sweat chemistry
- Abstract
Background: The cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation identification is being used with increased frequency to aid in the diagnosis of cystic fibrosis (CF) in those suspected with CF. Aim of this study was to identify diagnostic outcomes when CFTR mutational analysis was used in CF diagnosis. CFTR mutational analysis results were also compared with sweat chloride results., Methods: This study was done on all patients at our institution who had CFTR mutation analysis over a sevenyear period since August 2006., Results: A total of 315 patients underwent CFTR mutational analysis. Fifty-one (16.2%) patients had two mutations identified. Among them 32 had positive sweat chloride levels (≥60 mmol/L), while seven had borderline sweat chloride levels (40-59 mmol/L). An additional 70 patients (22.3%) had only one mutation identified. Among them eight had positive sweat chloride levels, and 17 had borderline sweat chloride levels. Fifty-five patients (17.5%) without CFTR mutations had either borderline (n=45) or positive (n=10) sweat chloride results. Three patients with a CF phenotype had negative CFTR analysis but elevated sweat chloride levels. In eighty-three patients (26.4%) CFTR mutational analysis was done without corresponding sweat chloride testing., Conclusions: Although CFTR mutation analysis has improved the diagnostic capability for CF, its use either as the first step or the only test to diagnose CFTR dysfunction should be discouraged and CF diagnostic guidelines need to be followed.
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- 2017
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25. Purifying Selection, Density Blocking and Unnoticed Mitochondrial DNA Diversity in the Red Deer, Cervus elaphus.
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Borowski Z, Świsłocka M, Matosiuk M, Mirski P, Krysiuk K, Czajkowska M, Borkowska A, and Ratkiewicz M
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- Animals, Environment, Humans, Phylogeography, Poland, Climate Change, Cytochromes b genetics, DNA, Mitochondrial genetics, Deer genetics, Genetic Variation
- Abstract
The trajectories of postglacial range expansions, the occurrence of lineage patches and the formation and maintenance of secondary contact between lineages may mostly reflect neutral demographic processes, including density blocking, that may leave long-lasting genetic signatures. However, a few studies have recently shown that climate may also play a role. We used red deer, a large, mobile herbivore that is assumed to be sensitive to climate change, to test hypotheses of possible selection on the mitochondrial DNA cytochrome b gene (mtDNA cytb) and competitive and/or density-blocking (using mtDNA control region). We searched for a possible link between the phylogeographic structure and abiotic climatic variables. Finally, we tested for isolation by distance and isolation by environment and assessed the impact of human-mediated translocations on the genetic structure of red deer. Our analysis of 30 red deer populations in Poland using the mtDNA control region (N = 357) and cytochrome b (N = 50) markers not only confirmed the presence of the Western and South-Eastern lineages of the species but also indicated the presence of a previously unnoticed, rare relic haplotype that grouped together C. e. italicus from Italy (the Mesola deer). No significant signs of positive selection were detected for the mtDNA cytb gene in the studied red deer. However, a significant signal for purifying selection was found in our study that may explain the narrowness of the contact zone because gene flow between the Western and South-Eastern lineages should drive relatively strong mito-nuclear incompatibilities. MtDNA control region differentiation among red deer populations in Poland correlated with different abiotic climatic variables. Strikingly, the southernmost ice sheet limits during the Elsterian was the most important factor, and it explained the largest amount of variation. However, neither isolation by distance (IBD) nor isolation by environment (IBE) were recorded, and a very limited impact of human translocations was evident. The above-mentioned results suggest that in contemporary red deer populations in Poland, the phylogeographic pattern is well preserved, and long-term processes (density and/or competitive blocking) still play a major role., Competing Interests: The authors have declared that no competing interests exist.
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- 2016
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26. Long-range gene flow and the effects of climatic and ecological factors on genetic structuring in a large, solitary carnivore: the Eurasian lynx.
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Ratkiewicz M, Matosiuk M, Saveljev AP, Sidorovich V, Ozolins J, Männil P, Balciauskas L, Kojola I, Okarma H, Kowalczyk R, and Schmidt K
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- Animals, Body Size, DNA, Mitochondrial genetics, Ecosystem, Female, Genetic Markers genetics, Genetic Variation, Geography, Lynx anatomy & histology, Male, Molecular Sequence Data, Population Dynamics, Y Chromosome genetics, Carnivory, Climate, Gene Flow, Lynx genetics
- Abstract
Due to their high mobility, large terrestrial predators are potentially capable of maintaining high connectivity, and therefore low genetic differentiation among populations. However, previous molecular studies have provided contradictory findings in relation to this. To elucidate patterns of genetic structure in large carnivores, we studied the genetic variability of the Eurasian lynx, Lynx lynx throughout north-eastern Europe using microsatellite, mitochondrial DNA control region and Y chromosome-linked markers. Using SAMOVA we found analogous patterns of genetic structure based on both mtDNA and microsatellites, which coincided with a relatively little evidence for male-biased dispersal. No polymorphism for the cytochrome b and ATP6 mtDNA genes and Y chromosome-linked markers were found. Lynx inhabiting a large area encompassing Finland, the Baltic countries and western Russia formed a single genetic unit, while some marginal populations were clearly divergent from others. The existence of a migration corridor was suggested to correspond with distribution of continuous forest cover. The lowest variability (in both markers) was found in lynx from Norway and Białowieża Primeval Forest (BPF), which coincided with a recent demographic bottleneck (Norway) or high habitat fragmentation (BPF). The Carpathian population, being monomorphic for the control region, showed relatively high microsatellite diversity, suggesting the effect of a past bottleneck (e.g. during Last Glacial Maximum) on its present genetic composition. Genetic structuring for the mtDNA control region was best explained by latitude and snow cover depth. Microsatellite structuring correlated with the lynx's main prey, especially the proportion of red deer (Cervus elaphus) in its diet. Eurasian lynx are capable of maintaining panmictic populations across eastern Europe unless they are severely limited by habitat continuity or a reduction in numbers. Different correlations of mtDNA and microsatellite population divergence patterns with climatic and ecological factors may suggest separate selective pressures acting on males and females in this solitary carnivore.
- Published
- 2014
- Full Text
- View/download PDF
27. Unexpected population genetic structure of European roe deer in Poland: an invasion of the mtDNA genome from Siberian roe deer.
- Author
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Matosiuk M, Borkowska A, Świsłocka M, Mirski P, Borowski Z, Krysiuk K, Danilkin AA, Zvychaynaya EY, Saveljev AP, and Ratkiewicz M
- Subjects
- Animals, Bayes Theorem, DNA, Mitochondrial genetics, Female, Genetic Markers, Haplotypes, Male, Molecular Sequence Data, Phylogeny, Phylogeography, Poland, Sequence Analysis, DNA, Deer genetics, Genetics, Population, Genome, Mitochondrial, Hybridization, Genetic
- Abstract
Introgressive hybridization is a widespread evolutionary phenomenon which may lead to increased allelic variation at selective neutral loci and to transfer of fitness-related traits to introgressed lineages. We inferred the population genetic structure of the European roe deer (Capreolus capreolus) in Poland from mitochondrial (CR and cyt b) and sex-linked markers (ZFX, SRY, DBY4 and DBY8). Analyses of CR mtDNA sequences from 452 individuals indicated widespread introgression of Siberian roe deer (C. pygargus) mtDNA in the European roe deer genome, 2000 km from the current distribution range of C. pygargus. Introgressed individuals constituted 16.6% of the deer studied. Nearly 75% of them possessed haplotypes belonging to the group which arose 23 kyr ago and have not been detected within the natural range of Siberian roe deer, indicating that majority of present introgression has ancient origin. Unlike the mtDNA results, sex-specific markers did not show signs of introgression. Species distribution modelling analyses suggested that C. pygargus could have extended its range as far west as Central Europe after last glacial maximum. The main hybridization event was probably associated with range expansion of the most abundant European roe deer lineage from western refugia and took place in Central Europe after the Younger Dryas (10.8-10.0 ka BP). Initially, introgressed mtDNA variants could have spread out on the wave of expansion through the mechanism of gene surfing, reaching high frequencies in European roe deer populations and leading to observed asymmetrical gene flow. Human-mediated introductions of C. pygargus had minimal effect on the extent of mtDNA introgression., (© 2014 John Wiley & Sons Ltd.)
- Published
- 2014
- Full Text
- View/download PDF
28. Treatment of cataplexy in a three-year-old using venlafaxine.
- Author
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Ratkiewicz M and Splaingard M
- Subjects
- Child, Preschool, Follow-Up Studies, Humans, Male, Treatment Outcome, Venlafaxine Hydrochloride, Cataplexy drug therapy, Cyclohexanols therapeutic use, Selective Serotonin Reuptake Inhibitors therapeutic use
- Abstract
Narcolepsy with cataplexy is rare in children under 5 years of age. There is limited information on safe and effective treatment of cataplexy in young children. We describe successful treatment of cataplexy in a 3-year-old using venlafaxine and subsequently followed for over 2 years.
- Published
- 2013
- Full Text
- View/download PDF
29. Light exposure and depression in hospitalized adult patients with cystic fibrosis.
- Author
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Kopp BT, Hayes D Jr, Ratkiewicz M, Baron N, and Splaingard M
- Subjects
- Adult, Cystic Fibrosis complications, Female, Hospitalization, Humans, Length of Stay, Male, Young Adult, Cystic Fibrosis psychology, Cystic Fibrosis therapy, Depression complications, Light, Phototherapy
- Abstract
Background: Depression is common in CF. Light therapy is used to treat depression, but exposure in hospitalized CF patients has not been studied. To determine the potential for improvement in depressive symptoms in CF patients, we measured light exposure in hospitalized CF patients., Methods: Light exposure was measured during hospitalization for 30 adult CF patients over 1 week. Depressive symptoms and quality of life were assessed simultaneously using the Center for Epidemiologic Studies Depression Scale (CES-D>16 positive for depression) and the CFQ-R., Results: 50% of patients were depressed, with a significant increase in length of stay between depressed and non-depressed patients (15.4 vs. 11.7 days, p=0.032). Only 23% of patients had >60 min of light exposure >1000 lx during 1 week, with average light exposure of 62 lx. There was no difference in light exposure between a new hospital room customized for natural light exposure and traditional rooms. Vitamin D was non-significantly decreased in depressed CF patients (25.1 vs. 32.6 ng/ml, p=0.052)., Limitations: The study was not blinded, which may affect patient light preferences. The cohort size was limited to a single center. Inclusion bias may be present as patients could refuse enrollment based on the nature of the study., Conclusions: Hospitalized CF adults have a high incidence of depressive symptoms associated with longer hospitalizations. Hospital settings are associated with low light exposure and phototherapy may be an option for rapid treatment of depression in hospitalized CF patients., (Copyright © 2013 Elsevier B.V. All rights reserved.)
- Published
- 2013
- Full Text
- View/download PDF
30. Complex patterns of population genetic structure of moose, Alces alces , after recent spatial expansion in Poland revealed by sex-linked markers.
- Author
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Swisłocka M, Czajkowska M, Duda N, Danyłow J, Owadowska-Cornil E, and Ratkiewicz M
- Abstract
In recent years, human activity directly and indirectly influenced the demography of moose in Poland. The species was close to extinction, and only a few isolated populations survived after the Second World War; then, unprecedented demographic and spatial expansions had occurred, possibly generating a very complex pattern of population genetic structure at the present-day margins of the species range in Poland. Over 370 moose from seven populations were collected from Poland, and partial sequences of the mitochondrial control region (mtDNA-cr; 607 bp) were obtained. In addition, the entire mtDNA cytochrome b gene (1,140 bp) and Y-chromosome markers (1,982 bp in total) were studied in a chosen set of individuals. Twelve mtDNA haplotypes that all belonged to the European moose phylogroup were recorded. They could be divided into two distinct clades: Central Europe and the Ural Mountains. The first clade consists of three distinct groups/branches: Biebrza, Polesie, and Fennoscandia. The Biebrza group has experienced spatial and demographic expansion in the recent past. Average genetic differentiation among moose populations in Poland at mtDNA-cr was great and significant ( Φ
ST = 0.407, p < 0.001). Using mtDNA-cr data, four separate groups of population were recognized using spatial analysis of molecular variance and principal coordinate analysis, including a relict population in Biebrza National Park, a reintroduced Kampinos National Park population, as well as populations that were descendants of moose that colonized Poland from the east (Lithuania, Belarus, and Ukraine) and the north (former East Prussia). Among all the sequenced Y-chromosome markers, polymorphisms were found in the DBY14 marker in three populations only; four haplotypes were recorded in total. No significant differentiation was detected for this Y-linked marker among moose populations in Poland. Our mtDNA study revealed that a variety of different factors-bottleneck, the presence of relict, autochthonous populations, translocations, limited female dispersal, and the colonization from the east and north-are responsible for the observed complex pattern of population genetic structure after demographic and spatial expansion of moose in Poland.- Published
- 2013
- Full Text
- View/download PDF
31. Fast and efficient DNA-based method for winter diet analysis from stools of three cervids: moose, red deer, and roe deer.
- Author
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Czernik M, Taberlet P, Swisłocka M, Czajkowska M, Duda N, and Ratkiewicz M
- Abstract
Effects of cervid browsing on timber production, especially during winter, lead to economic losses in forest management. The aim of this study was to present an efficient DNA-based method which allows qualitative assessment of the winter diet from stools of moose ( Alces alces ), roe deer ( Capreolus capreolus ), and red deer ( Cervus elaphus ). The preliminary results of the diet composition of the three cervids from Poland were also presented with a special emphasis on moose. The electropherograms of the chloroplast intron trn L (UAA) P6 loop amplification products using g (fluorescence-labeled) and h primers revealed differences in the length of PCR products among various plant species eaten by these herbivores. In addition, the usage of species-specific primers allowed unambiguous identification of different gymnosperms and angiosperms. The preliminary moose diet analysis, based on winter fecal samples from the entire range of moose occurrence in Poland, revealed the presence of 15 to 24 tree, shrub, and herbaceous species. This fast, cost-efficient, and simple method proved also to be reliable for the diet analysis of red deer and roe deer. It may be a valuable tool in forest and conservation management, as well as a way of enhancing ecological studies focusing on the impact of herbivores on the ecosystems and their possible food niche overlap.
- Published
- 2013
- Full Text
- View/download PDF
32. Chromosomal rearrangements do not seem to affect the gene flow in hybrid zones between karyotypic races of the common shrew (Sorex araneus).
- Author
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Horn A, Basset P, Yannic G, Banaszek A, Borodin PM, Bulatova NS, Jadwiszczak K, Jones RM, Polyakov AV, Ratkiewicz M, Searle JB, Shchipanov NA, Zima J, and Hausser J
- Subjects
- Animals, Genetic Variation, Gene Flow, Hybridization, Genetic, Karyotype, Shrews genetics
- Abstract
Chromosomal rearrangements are proposed to promote genetic differentiation between chromosomally differentiated taxa and therefore promote speciation. Due to their remarkable karyotypic polymorphism, the shrews of the Sorex araneus group were used to investigate the impact of chromosomal rearrangements on gene flow. Five intraspecific chromosomal hybrid zones characterized by different levels of karyotypic complexity were studied using 16 microsatellites markers. We observed low levels of genetic differentiation even in the hybrid zones with the highest karyotypic complexity. No evidence of restricted gene flow between differently rearranged chromosomes was observed. Contrary to what was observed at the interspecific level, the effect of chromosomal rearrangements on gene flow was undetectable within the S. araneus species., (© 2011 The Author(s). Evolution© 2011 The Society for the Study of Evolution.)
- Published
- 2012
- Full Text
- View/download PDF
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