Browsing by Subject "POPULATION-GENETICS"

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  • Sipola, Aleksi; Marttinen, Pekka; Corander, Jukka (2018)
    The advent of genomic data from densely sampled bacterial populations has created a need for flexible simulators by which models and hypotheses can be efficiently investigated in the light of empirical observations. Bacmeta provides fast stochastic simulation of neutral evolution within a large collection of interconnected bacterial populations with completely adjustable connectivity network. Stochastic events of mutations, recombinations, insertions/deletions, migrations and micro-epidemics can be simulated in discrete non-overlapping generations with a Wright-Fisher model that operates on explicit sequence data of any desired genome length. Each model component, including locus, bacterial strain, population and ultimately the whole metapopulation, is efficiently simulated using C++ objects and detailed metadata from each level can be acquired. The software can be executed in a cluster environment using simple textual input files, enabling, e.g. large-scale simulations and likelihood-free inference. Availability and implementation: Bacmeta is implemented with C++ for Linux, Mac and Windows. It is available at under the BSD 3-clause license. Contact: or Supplementary information: Supplementary data are available at Bioinformatics online.
  • Ronnas, Cecilia; Werth, Silke; Ovaskainen, Otso; Varkonyi, Gergely; Scheidegger, Christoph; Snall, Tord (2017)
    Accurate estimates of gamete and offspring dispersal range are required for the understanding and prediction of spatial population dynamics and species persistence. Little is known about gamete dispersal in fungi, especially in lichen-forming ascomycetes. Here, we estimate the dispersal functions of clonal propagules, gametes and ascospores of the epiphytic lichen Lobaria pulmonaria. We use hierarchical Bayesian parentage analysis, which integrates genetic and ecological information from multiannual colonization and dispersal source data collected in a large, oldgrowth forest landscape. The effective dispersal range of gametes is several hundred metres to kilometres from potential paternal individuals. By contrast, clonal propagules disperse only tens of metres, and ascospores disperse over several thousand metres. Our study reveals the dispersal distances of individual reproductive units; clonal propagules, gametes and ascospores, which is of great importance for a thorough understanding of the spatial dynamics of ascomycetes. Sexual reproduction occurs between distant individuals. However, whereas gametes and ascospores disperse over long distances, the overall rate of colonization of trees is low. Hence, establishment is the limiting factor for the colonization of new host trees by the lichen in old- growth landscapes.
  • Palta, Priit; Kaplinski, Lauris; Nagirnaja, Liina; Veidenberg, Andres; Moels, Maert; Nelis, Mari; Esko, Tonu; Metspalu, Andres; Laan, Maris; Remm, Maido (2015)
    DNA copy number variants (CNVs) that alter the copy number of a particular DNA segment in the genome play an important role in human phenotypic variability and disease susceptibility. A number of CNVs overlapping with genes have been shown to confer risk to a variety of human diseases thus highlighting the relevance of addressing the variability of CNVs at a higher resolution. So far, it has not been possible to deterministically infer the allelic composition of different haplotypes present within the CNV regions. We have developed a novel computational method, called PiCNV, which enables to resolve the haplotype sequence composition within CNV regions in nuclear families based on SNP genotyping microarray data. The algorithm allows to i) phase normal and CNV-carrying haplotypes in the copy number variable regions, ii) resolve the allelic copies of rearranged DNA sequence within the haplotypes and iii) infer the heritability of identified haplotypes in trios or larger nuclear families. To our knowledge this is the first program available that can deterministically phase null, mono-, di-, tri- and tetraploid genotypes in CNV loci. We applied our method to study the composition and inheritance of haplotypes in CNV regions of 30 HapMap Yoruban trios and 34 Estonian families. For 93.6% of the CNV loci, PiCNV enabled to unambiguously phase normal and CNV-carrying haplotypes and follow their transmission in the corresponding families. Furthermore, allelic composition analysis identified the co-occurrence of alternative allelic copies within 66.7% of haplotypes carrying copy number gains. We also observed less frequent transmission of CNV-carrying haplotypes from parents to children compared to normal haplotypes and identified an emergence of several de novo deletions and duplications in the offspring.
  • Kess, Tony; Bentzen, Paul; Lehnert, Sarah J.; Sylvester, Emma V.A.; Lien, Sigbjørn; Kent, Matthew P.; Sinclair-Waters, Marion; Morris, Corey J.; Wringe, Brendan; Fairweather, Robert; Bradbury, Ian R. (2020)
    Genomic architecture and standing variation can play a key role in ecological adaptation and contribute to the predictability of evolution. In Atlantic cod (Gadus morhua), four large chromosomal rearrangements have been associated with ecological gradients and migratory behavior in regional analyses. However, the degree of parallelism, the extent of independent inheritance, and functional distinctiveness of these rearrangements remain poorly understood. Here, we use a 12K single nucleotide polymorphism (SNP) array to demonstrate extensive individual variation in rearrangement genotype within populations across the species range, suggesting that local adaptation to fine-scale ecological variation is enabled by rearrangements with independent inheritance. Our results demonstrate significant association of rearrangements with migration phenotype and environmental gradients across the species range. Individual rearrangements exhibit functional modularity, but also contain loci showing multiple environmental associations. Clustering in genetic distance trees and reduced differentiation within rearrangements across the species range are consistent with shared variation as a source of contemporary adaptive diversity in Atlantic cod. Conversely, we also find that haplotypes in the LG12 and LG1 rearranged region have diverged across the Atlantic, despite consistent environmental associations. Exchange of these structurally variable genomic regions, as well as local selective pressures, has likely facilitated individual diversity within Atlantic cod stocks. Our results highlight the importance of genomic architecture and standing variation in enabling fine-scale adaptation in marine species.
  • Gargiulo, Roberta; Pironon, Samuel; Zheleznaya, Ekaterina; Sanchez, Michele D.; Balazs, Zoltan R.; Podar, Dorina; Wilkinson, Timothy; Jäkäläniemi, Anne; Kull, Tiiu; Väre, Henry; Fay, Michael F. (2019)
    Aim We investigated the phylogeographical history of a clonal-sexual orchid, to test the hypothesis that current patterns of genetic diversity and differentiation retain the traces of climatic fluctuations and of the species reproductive system. Location Europe, Siberia and Russian Far East. Taxon Cypripedium calceolus L. (Orchidaceae). Methods Samples (>900, from 56 locations) were genotyped at 11 nuclear microsatellite loci and plastid sequences were obtained for a subset of them. Analysis of genetic structure and approximate Bayesian computations were performed. Species distribution modelling was used to explore the effects of past climatic fluctuations on the species range. Results Analysis of genetic diversity reveals high heterozygosity and allele diversity, with no geographical trend. Three genetic clusters are identified with extant gene pools derived from ancestral demes in glacial refugia. Siberian populations exhibit different plastid haplotypes, supporting an early divergence for the Asian gene pool. Demographic results based on genetic data are compatible with an admixture event explaining differentiation in Estonia and Romania and they are consistent with past climatic dynamics inferred through species distribution modelling. Current population differentiation does not follow isolation by distance model and is compatible with a model of isolation by colonization. Main conclusions The genetic differentiation observed today in C. calceolus preserves the signature of climatic fluctuations in the historical distribution range of the species. Our findings support the central role of clonal reproduction in the reducing loss of diversity through genetic drift. The dynamics of the clonal-sexual reproduction are responsible for the persistence of ancestral variation and stability during glacial periods and post-glacial expansion.
  • Nonaka, Etsuko; Kaitala, Veijo (2020)
    Many parasitoids have single-locus complementary sex determination (sl-CSD), which produces sterile or inviable males when homozygous at the sex determining locus. A previous study theoretically showed that small populations have elevated risks of extinction due to the positive feedback between inbreeding and small population size, referred to as the diploid male vortex. A few modeling studies have suggested that the diploid male vortex may not be as common because balancing selection at sex determining loci tends to maintain high allelic diversity in spatially structured populations. However, the generality of the conclusion is yet uncertain, as they were drawn either from models developed for particular systems or from a general-purpose competition model. To attest the conclusion, we study several well-studied host-parasitoid models that incorporate functional response specifying the number of attacked hosts given a host density and derive the conditions for a diploid male vortex in a single population. Then, we develop spatially structured individual-based versions of the models to include female behavior, diploid male fertility, and temporal fluctuations. The results show that producing a handful of successful offspring per female parasitoid could enable parasitoid persistence when a typical number of CSD alleles are present. The effect of functional response depends on the levels of fluctuations in host abundance, and inviable or partially fertile diploid males and a small increase in dispersal can alleviate the risk of a diploid male vortex. Our work supports the generality of effective genetic rescue in spatially connected parasitoid populations with sl-CSD. However, under more variable climate, the efficacy of the CSD mechanism may substantially decline.
  • Vanderpoorten, Alain; Patino, Jairo; Desamore, Aurelie; Laenen, Benjamin; Gorski, Piotr; Papp, Beata; Hola, Eva; Korpelainen, Helena; Hardy, Olivier (2019)
    1. Bryophytes are typically seen as extremely efficient dispersers. Experimental evidence suggests that efficient short-distance dispersal coupled with random long-distance dispersal (LDD) leads to an inverse isolation effect. Under the latter, a higher genetic diversity of colonizing propagules is expected with increasing isolation, counteracting differentiation beyond the range of short-distance dispersal. 2. This expectation is tested from a review of evidence on spatial genetic structure and analyses of isolation-by-distance (IBD) at different scales. 3. A decay of the IBD signal, characterized by non-significant slopes between kinship coefficients and geographic distance was observed beyond 100 m. A second slope shift was observed at distances larger than 1 km, with a proportion of significant slopes in more than one third of the datasets. 4. The decay of the IBD signal beyond 100 m, which reflects efficient LDD, is consistent with the inverse isolation hypothesis. Persistence of a significant IBD signal at medium ranges in one third of the analysed cases suggests, however, that the inverse isolation effect is not a rule in bryophyte spore dispersal. Furthermore, the higher proportion of significant IBD patterns observed at scales over 100 km likely marks the limits of regional dispersal, beyond which an increasingly smaller proportion of spores travel. 5. Synthesis. We discuss the differences between experimental and genetic estimates of spore dispersal and conclude that geographic distance remains a significant proxy of spore colonization rates, with major consequences for our understanding of actual migration capacities in bryophytes, and hence, our capacity to model range shifts in a changing world.
  • Penczykowski, Rachel M.; Laine, Anna-Liisa; Koskella, Britt (2016)
    Predicting the emergence, spread and evolution of parasites within and among host populations requires insight to both the spatial and temporal scales of adaptation, including an understanding of within-host up through community-level dynamics. Although there are very few pathosystems for which such extensive data exist, there has been a recent push to integrate studies performed over multiple scales or to simultaneously test for dynamics occurring across scales. Drawing on examples from the literature, with primary emphasis on three diverse host-parasite case studies, we first examine current understanding of the spatial structure of host and parasite populations, including patterns of local adaptation and spatial variation in host resistance and parasite infectivity. We then explore the ways to measure temporal variation and dynamics in host-parasite interactions and discuss the need to examine change over both ecological and evolutionary timescales. Finally, we highlight new approaches and syntheses that allow for simultaneous analysis of dynamics across scales. We argue that there is great value in examining interplay among scales in studies of host-parasite interactions.