Local Genetic Drift Research Articles

Phenotypic plasticity as the main driver of alien plant trait variation in urban versus rural microclimate for the model species Veronica persica.

Urban environments are warmer than the rural surroundings, impacting plant phenotypic traits. When plants are present over areas with contrasted conditions such as along urbanization gradients, their phenotypes may differ, and these differencesdepend on different processes, including phenotypic plasticity, maternal environmental effects and genetic differentiation (local adaptation and/or genetic drift). Successful establishment of alien species along environmental gradients has been linked to high phenotypic plasticity and rapid evolutionary responses, which are easier to track for species with a known residence time. The mechanisms explaining trait variation in plants in urban versus rural microclimatic conditions have received little attention. Using the alien Veronica persica as model species, we measured leaf traits in urban and rural populations and performed a reciprocal common-garden experiment to study how germination, leaf, growth, and flowering traits varied in response to experimental microclimate (rural or urban) and population origin environment (rural or urban). Veronica persica displayed phenotypic plasticity in all measured traits, with reduced germination, development, and flowering under urban microclimate which suggests more stressful growing conditions in the urban than in the rural microclimate. No significant effect of the rural or urban origin environment was detected, providing no evidence for local adaptation to urban or rural environments. Additionally, we found limited signs of maternal environmental effects. We noted the importance of the mother plant and the population identities suggesting genetically based differences. Our results indicate that urban environments are more hostile than rural ones, and that V. persica does not show any adaptation to urban environments despite genetic differences between populations.

Runs of homozygosity in Sable Island feral horses reveal the genomic consequences of inbreeding and divergence from domestic breeds

BackgroundUnderstanding inbreeding and its impact on fitness and evolutionary potential is fundamental to species conservation and agriculture. Long stretches of homozygous genotypes, known as runs of homozygosity (ROH), result from inbreeding and their number and length can provide useful population-level information on inbreeding characteristics and locations of signatures of selection. However, the utility of ROH for conservation is limited for natural populations where baseline data and genomic tools are lacking. Comparing ROH metrics in recently feral vs. domestic populations of well understood species like the horse could provide information on the genetic health of those populations and offer insight into how such metrics compare between managed and unmanaged populations. Here we characterized ROH, inbreeding coefficients, and ROH islands in a feral horse population from Sable Island, Canada, using ~41 000 SNPs and contrasted results with those from 33 domestic breeds to assess the impacts of isolation on ROH abundance, length, distribution, and ROH islands.ResultsROH number, length, and ROH-based inbreeding coefficients (FROH) in Sable Island horses were generally greater than in domestic breeds. Short runs, which typically coalesce many generations prior, were more abundant than long runs in all populations, but run length distributions indicated more recent population bottlenecks in Sable Island horses. Nine ROH islands were detected in Sable Island horses, exhibiting very little overlap with those found in domestic breeds. Gene ontology (GO) enrichment analysis for Sable Island ROH islands revealed enrichment for genes associated with 3 clusters of biological pathways largely associated with metabolism and immune function.ConclusionsThis study indicates that Sable Island horses tend to be more inbred than their domestic counterparts and that most of this inbreeding is due to historical bottlenecks and founder effects rather than recent mating between close relatives. Unique ROH islands in the Sable Island population suggest adaptation to local selective pressures and/or strong genetic drift and highlight the value of this population as a reservoir of equine genetic variation. This research illustrates how ROH analyses can be applied to gain insights into the population history, genetic health, and divergence of wild or feral populations of conservation concern.

Population Genomics and Lagrangian Modeling Shed Light on Dispersal Events in the Mediterranean Endemic Ericaria zosteroides (=Cystoseira zosteroides) (Fucales)

Dispersal is a central process that affects population growth, gene flow, and ultimately species persistence. Here we investigate the extent to which gene flow occurs between fragmented populations of the deep-water brown algae Ericaria zosteroides (Turner) Greville (Sargassaceae, Fucales). These investigations were performed at different spatial scales from the bay of Marseille (western Provence) to Corsica. As dispersal of zygotes is shown to be limited over distances beyond a few meters, we used a multidisciplinary approach, based on Lagrangian modeling and population genomics to test the hypothesis that drifting of fertile parts of thallus (eggs on fertile branches), mediated by ocean currents, enable occasional gene flow between populations. Therefore we assessed the respective contribution of oceanographic connectivity, geographical isolation, and seawater temperatures to the genetic structure of this species. The genetic structure was assessed using 10,755 neutral SNPs and 12 outlier SNPs genotyped by dd-RAD sequencing in 261 individuals of E. zosteroides. We find that oceanographic connectivity is the best predictor of genetic structure, while differentiation in outlier SNPs can be explained by the depth of populations, as emphasized by the minimum seawater temperature predictor. However, further investigations will be necessary for clarifying how depth drives adaptive genetic differentiation in E. zosteroides. Our analyses revealed that local hydrodynamic conditions are correlated with the very high divergence of one population in the Bay of Marseille. Overall, the levels of gene flow mediated by drifting were certainly not sufficient to counteract differentiation by local genetic drift, but enough to allow colonization several kilometers away. This study stresses the need to consider secondary dispersal mechanisms of presumed low dispersal marine species to improve inference of population connectivity.

Conservation genomics of the ‘Endangered’ long-nosed bandicoot (Perameles nasuta) population at North Head, Sydney, Australia

Wildlife species impacted by habitat loss and fragmentation often require conservation efforts to maintain populations. Long-nosed bandicoots (Perameles nasuta) still persist within the highly urbanised matrix of northern Sydney (Australia). One population at North Head, Sydney, is currently listed as an Endangered population due to its small size, apparent isolation and other threats. To support future management, we used 1,446 single nucleotide polymorphism markers (SNPs) from 167 bandicoots to: i) assess the assumption of isolation and determine if genetic structuring is present between North Head and individuals from 11 other localities in northern Sydney, and ii) investigate genetic diversity over time in the North Head population from 2002 to 2018. Analyses confirmed population structuring and genetic divergence between North Head and greater northern Sydney. Three distinct populations were identified that corresponded to geographic localities (North Head, northern Sydney and Mosman). All populations were significantly differentiated (FST = 0.171–0.345), suggesting local genetic drift between localities. North Head genetic diversity indices estimated between 2002 to 2018 showed relatively constant levels of allelic richness (1.90–2.00) and observed heterozygosity (HO = 0.231–0.310) along with minor levels of inbreeding (FIS 0.020–0.052). The identification of some individuals sampled on North Head that were assigned to other populations suggests some sporadic geneflow into the population has occurred and may have assisted with maintaining genetic diversity. These data suggest that the North Head population is distinct from other northern Sydney populations and has relatively constant levels of genetic diversity.

Trait variation in response to varying winter temperatures, diversity patterns and signatures of selection along the latitudinal distribution of the widespread grassland plant Arrhenatherum elatius.

Across Europe, genetic diversity can be expected to decline toward the North because of stochastic and selective effects which may imply diminished phenotypic variation and less potential for future genetic adaptations to environmental change. Understanding such latitudinal patterns can aid provenance selection for breeding or assisted migration approaches. In an experiment simulating different winter temperatures, we assessed quantitative trait variation, genetic diversity, and differentiation for natural populations of the grass Arrhenatherum elatius originating from a large latitudinal gradient. In general, populations from the North grew smaller and had a lower flowering probability. Toward the North, the absolute plastic response to the different winter conditions as well as heritability for biomass production significantly declined. Genetic differentiation in plant height and probability of flowering were very strong and significantly higher than under neutral expectations derived from SNP data, suggesting adaptive differentiation. Differentiation in biomass production did not exceed but mirrored patterns for neutral genetic differentiation, suggesting that migration‐related processes caused the observed clinal trait variation. Our results demonstrate that genetic diversity and trait differentiation patterns for A. elatius along a latitudinal gradient are likely shaped by both local selection and genetic drift.

Benefits of gene flow are mediated by individual variability in self-compatibility in small isolated populations of an endemic plant species.

Many rare and endemic species experience increased rates of self‐fertilization and mating among close relatives as a consequence of existing in small populations within isolated habitat patches. Variability in self‐compatibility among individuals within populations may reflect adaptation to local demography and genetic architecture, inbreeding, or drift. We use experimental hand‐pollinations under natural field conditions to assess the effects of gene flow in 21 populations of the central Appalachian endemic Trifolium virginicum that varied in population size and degree of isolation. We quantified the effects of distance from pollen source on pollination success and fruit set. Rates of self‐compatibility varied dramatically among maternal plants, ranging from 0% to 100%. This variation was unrelated to population size or degree of isolation. Nearly continuous variation in the success of selfing and near‐cross‐matings via hand pollination suggests that T. virginicum expresses pseudo‐self‐fertility, whereby plants carrying the same S‐allele mate successfully by altering the self‐incompatibility reaction. However, outcrossing among populations produced significantly higher fruit set than within populations, an indication of drift load. These results are consistent with strong selection acting to break down self‐incompatibility in these small populations and/or early‐acting inbreeding depression expressed upon selfing.

Constraint, natural selection, and the evolution of human body form

Variation in body form among human groups is structured by a blend of natural selection driven by local climatic conditions and random genetic drift. However, attempts to test ecogeographic hypotheses have not distinguished between adaptive traits (i.e., those that evolved as a result of selection) and those that evolved as a correlated response to selection on other traits (i.e., nonadaptive traits), complicating our understanding of the relationship between climate and morphological distinctions among populations. Here, we use evolutionary quantitative methods to test if traits previously identified as supporting ecogeographic hypotheses were actually adaptive by estimating the force of selection on individual traits needed to drive among-group differentiation. Our results show that not all associations between trait means and latitude were caused by selection acting directly on each individual trait. Although radial and tibial length and biiliac and femoral head breadth show signs of responses to directional selection matching ecogeographic hypotheses, the femur was subject to little or no directional selection despite having shorter values by latitude. Additionally, in contradiction to ecogeographic hypotheses, the humerus was under directional selection for longer values by latitude. Responses to directional selection in the tibia and radius induced a nonadaptive correlated response in the humerus that overwhelmed its own trait-specific response to selection. This result emphasizes that mean differences between groups are not good indicators of which traits are adaptations in the absence of information about covariation among characteristics.

Evidence for selection maintaining MHC diversity in a rodent species despite strong density fluctuations.

Strong spatiotemporal variation in population size often leads to reduced genetic diversity limiting the adaptive potential of individual populations. Key genes of adaptive variation are encoded by the immune genes of the major histocompatibility complex (MHC) playing an essential role in parasite resistance. How MHC variation persists in rodent populations that regularly experience population bottlenecks remains an important topic in evolutionary genetics. We analysed the consequences of strong population fluctuations on MHC class II DRB exon 2 diversity in two distant common vole (Microtus arvalis) populations in three consecutive years using a high-throughput sequencing approach. In 143 individuals, we detected 25 nucleotide alleles translating into 14 unique amino acid MHC alleles belonging to at least three loci. Thus, the overall allelic diversity and amino acid distance among the remaining MHC alleles, used as a surrogate for the range of pathogenic antigens that can be presented to T-cells, are still remarkably high. Both study populations did not show significant population differentiation between years, but significant differences were found between sites. We concluded that selection processes seem to be strong enough to maintain moderate levels of MHC diversity in our study populations outcompeting genetic drift, as the same MHC alleles were conserved between years. Differences in allele frequencies between populations might be the outcome of different local parasite pressures and/or genetic drift. Further understanding of how pathogens vary across space and time will be crucial to further elucidate the mechanisms maintaining MHC diversity in cyclic populations.

Genomic diversity and differentiation of a managed island wild boar population.

The evolution of island populations in natural systems is driven by local adaptation and genetic drift. However, evolutionary pathways may be altered by humans in several ways. The wild boar (WB) (Sus scrofa) is an iconic game species occurring in several islands, where it has been strongly managed since prehistoric times. We examined genomic diversity at 49 803 single-nucleotide polymorphisms in 99 Sardinian WBs and compared them with 196 wild specimens from mainland Europe and 105 domestic pigs (DP; 11 breeds). High levels of genetic variation were observed in Sardinia (80.9% of the total number of polymorphisms), which can be only in part associated to recent genetic introgression. Both Principal Component Analysis and Bayesian clustering approach revealed that the Sardinian WB population is highly differentiated from the other European populations (FST=0.126–0.138), and from DP (FST=0.169). Such evidences were mostly unaffected by an uneven sample size, although clustering results in reference populations changed when the number of individuals was standardized. Runs of homozygosity (ROHs) pattern and distribution in Sardinian WB are consistent with a past expansion following a bottleneck (small ROHs) and recent population substructuring (highly homozygous individuals). The observed effect of a non-random selection of Sardinian individuals on diversity, FST and ROH estimates, stressed the importance of sampling design in the study of structured or introgressed populations. Our results support the heterogeneity and distinctiveness of the Sardinian population and prompt further investigations on its origins and conservation status.

Neutral and adaptive drivers of microgeographic genetic divergence within continuous populations: the case of the neotropical tree Eperua falcata (Aubl.).

BackgroundIn wild plant populations, genetic divergence within continuous stands is common, sometimes at very short geographical scales. While restrictions to gene flow combined with local inbreeding and genetic drift may cause neutral differentiation among subpopulations, microgeographical variations in environmental conditions can drive adaptive divergence through natural selection at some targeted loci. Such phenomena have recurrently been observed in plant populations occurring across sharp environmental boundaries, but the interplay between selective processes and neutral genetic divergence has seldom been studied.MethodsWe assessed the extent of within-stand neutral and environmentally-driven divergence in the Neotropical tree Eperua falcate Aubl. (Fabaceae) through a genome-scan approach. Populations of this species grow in dense stands that cross the boundaries between starkly contrasting habitats. Within-stand phenotypic and candidate-gene divergence have already been proven, making this species a suitable model for the study of genome-wide microgeographic divergence. Thirty trees from each of two habitats (seasonally flooded swamps and well-drained plateaus) in two separate populations were genotyped using thousands of AFLPs markers. To avoid genotyping errors and increase marker reliability, each sample was genotyped twice and submitted to a rigorous procedure for data cleaning, which resulted in 1196 reliable and reproducible markers.ResultsDespite the short spatial distances, we detected within-populations genetic divergence, probably caused by neutral processes, such as restrictions in gene flow. Moreover, habitat-structured subpopulations belonging to otherwise continuous stands also diverge in relation to environmental variability and habitat patchiness: we detected convincing evidence of divergent selection at the genome-wide level and for a fraction of the analyzed loci (comprised between 0.25% and 1.6%). Simulations showed that the levels of differentiation for these outliers are compatible with scenarios of strong divergent selection.

Effects of habitat structure and land-use intensity on the genetic structure of the grasshopper species Chorthippus parallelus.

Land-use intensity (LUI) is assumed to impact the genetic structure of organisms. While effects of landscape structure on the genetics of local populations have frequently been analysed, potential effects of variation in LUI on the genetic diversity of local populations have mostly been neglected. In this study, we used six polymorphic microsatellites to analyse the genetic effects of variation in land use in the highly abundant grasshopper Chorthippus parallelus. We sampled a total of 610 individuals at 22 heterogeneous grassland sites in the Hainich-Dün region of Central Germany. For each of these grassland sites we assessed habitat size, LUI (combined index of mowing, grazing and fertilization), and the proportion of grassland adjoining the sampling site and the landscape heterogeneity (the latter two factors within a 500 m buffer zone surrounding each focal site). We found only marginal genetic differentiation among all local populations and no correlation between geographical and genetic distance. Habitat size, LUI and landscape characteristics had only weak effects on most of the parameters of genetic diversity of C. parallelus; only expected heterozygosity and the grasshopper abundances were affected by interacting effects of LUI, habitat size and landscape characteristics. The lack of any strong relationships between LUI, abundance and the genetic structure might be due to large local populations of the species in the landscape, counteracting local differentiation and potential genetic drift effects.

MHC class II diversity of koala (Phascolarctos cinereus) populations across their range.

Major histocompatibility complex class II (MHCII) genes code for proteins that bind and present antigenic peptides and trigger the adaptive immune response. We present a broad geographical study of MHCII DA β1 (DAB) and DB β1 (DBB) variants of the koala (Phascolarctos cinereus; n=191) from 12 populations across eastern Australia, with a total of 13 DAB and 7 DBB variants found. We identified greater MHCII variation and, possibly, additional gene copies in koala populations in the north (Queensland and New South Wales) relative to the south (Victoria), confirmed by STRUCTURE analyses and genetic differentiation using analysis of molecular variance. The higher MHCII diversity in the north relative to south could potentially be attributed to (i) significant founder effect in Victorian populations linked to historical translocation of bottlenecked koala populations and (ii) increased pathogen-driven balancing selection and/or local genetic drift in the north. Low MHCII genetic diversity in koalas from the south could reduce their potential response to disease, although the three DAB variants found in the south had substantial sequence divergence between variants. This study assessing MHCII diversity in the koala with historical translocations in some populations contributes to understanding the effects of population translocations on functional genetic diversity.

Hopping out of Mindanao: Miocene‐Pliocene geological processes and cross‐island dispersal as major drivers of diversity for Philippine treehoppers

AbstractAimWe investigated the biogeographical history of an endemic Philippine treehopper, Pyrgonota bifoliata (Membracidae), to test the effect of Neogene geological events and Pleistocene climate change in generating speciation within the Philippines.LocationThe Philippine archipelago.MethodsPhylogenies were reconstructed based on the mitochondrial cytochrome c oxidase I subunit (cox1) and nuclear wingless (wg) genes using maximum parsimony, maximum likelihood and Bayesian criteria. Divergence times were estimated in beast based on a range of mutation rates. Ancestral ranges were reconstructed using rasp (Reconstruct Ancestral State in Phylogenies) and Bayesian stochastic search variable selection (BSSVS). Species boundaries were tested using the Bayesian general mixed Yule coalescent (bGMYC) and Bayesian phylogenetic and phylogeography (BPP) methods.ResultsPyrgonota bifoliata showed one of the lowest levels of between‐Pleistocene island genetic variation among all the taxa examined. Most Pleistocene aggregate island complex (PAIC) lineages and extant P. bifoliata originated before the onset of the first extensive Pleistocene glacial cycle. Ancestral P. bifoliata originated in the late Miocene from Mindanao, followed by a sequential northwards colonization of the Visayan Islands and Luzon in the Pliocene–early Pleistocene, which coincided with the spatial reorganization of the Philippines. The statistically delimited nine provisional species of what we now view as the P. bifoliata species complex correspond to current island boundaries and specialized host plants.Main conclusionsThe temporally calibrated phylogeny of P. bifoliata represents the first invertebrate study to support the hypothesis that Miocene–Pliocene geological events and consequent cross‐island dispersal were pivotal promoters of species diversity in the Philippines. We hypothesize that ecological adaptation to specialized host plants, together with either local selection or genetic drift through within‐island allopatric isolation, present a plausible in situ speciation mechanism for the origin of these herbivorous insects.

Phylogeography and population genetic structure of the Talas tuco-tuco (Ctenomys talarum): integrating demographic and habitat histories

We examined the phylogeography of the South American subterranean rodent Ctenomys talarum (Talas tucotuco) using mitochondrial DNA control region (D-loop) sequences. This species is an herbivorous rodent endemic to the province of Buenos Aires, Argentina, that lives in natural grasslands in coastal sand dune habitats and in some fragmented inland populations. In this study we assessed the genetic relationship among populations of C. talarum across its entire distributional range and analyzed how the geological history of the habitat has affected the genetic structure and demographic history of these populations. A complex network of haplotypes in conjunction with analysis of molecular variance results showed high genetic subdivision and a strong phylogeographic pattern among populations of C. talarum .P airwiseFST-values showed significant differentiation among all populations studied. The overall pattern was similar to that expected under the isolation-by-distance model, suggesting equilibrium between gene flow and local genetic drift. Major geographical barriers (e.g., rivers and unsuitable habitat) in the area, in conjunction with population isolation, appeared to be associated with strong genetic differentiation among the different geographical groups. Local mismatch distributions and tests of neutrality suggest contrasting histories for different groups of populations; although some populations appeared to be characterized by demographic stability and no significant departures from neutrality, others showed departures from strict neutrality consistent with a recent demographic expansion. Finally, a close association seems to exist between the major climatic changes that occurred during the late Pleistocene and Holocene in the central region of Argentina and the main historical demographic changes inferred from C. talarum. Current populations of C. talarum appear to be relicts of a more extended historical distribution along the Argentinean Pampas. These historical extinctions, however, have not erased the signature of long-term stability and geographical structure in this species along the coastal and inland distribution ranges.

Radial Domany-Kinzel models with mutation and selection

We study the effect of spatial structure, genetic drift, mutation, and selective pressure on the evolutionary dynamics in a simplified model of asexual organisms colonizing a new territory. Under an appropriate coarse-graining, the evolutionary dynamics is related to the directed percolation processes that arise in voter models, the Domany-Kinzel (DK) model, contact process, and so on. We explore the differences between linear (flat front) expansions and the much less familiar radial (curved front) range expansions. For the radial expansion, we develop a generalized, off-lattice DK model that minimizes otherwise persistent lattice artifacts. With both simulations and analytical techniques, we study the survival probability of advantageous mutants, the spatial correlations between domains of neutral strains, and the dynamics of populations with deleterious mutations. "Inflation" at the frontier leads to striking differences between radial and linear expansions. For a colony with initial radius R(0) expanding at velocity v, significant genetic demixing, caused by local genetic drift, occurs only up to a finite time t(*)=R(0)/v, after which portions of the colony become causally disconnected due to the inflating perimeter of the expanding front. As a result, the effect of a selective advantage is amplified relative to genetic drift, increasing the survival probability of advantageous mutants. Inflation also modifies the underlying directed percolation transition, introducing novel scaling functions and modifications similar to a finite-size effect. Finally, we consider radial range expansions with deflating perimeters, as might arise from colonization initiated along the shores of an island.

Twentieth-century changes in the genetic composition of Swedish field pea metapopulations.

Landrace crops are formed by local adaptation, genetic drift and gene flow through seed exchange. In reverse, the study of genetic structure between landrace populations can reveal the effects of these forces over time. We present here the analysis of genetic diversity in 40 Swedish field pea (Pisum sativum L.) populations, either available as historical seed samples from the late nineteenth century or as extant gene bank accessions assembled in the late twentieth century. The historical material shows constant high levels of within-population diversity, whereas the extant accessions show varying, and overall lower, levels of within-population diversity. Structure and principal component analysis cluster most accessions, both extant and historical, in groups after geographical origin. County-wise analyses of the accessions show that the genetic diversity of the historical accessions is largely overlapping. In contrast, most extant accessions show signs of genetic drift. They harbor a subset of the alleles found in the historical accessions and are more differentiated from each other. These results reflect how, historically present metapopulations have been preserved during the twentieth century, although as genetically isolated populations.

The pollen dispersal kernel and mating system of an insect-pollinated tropical palm, Oenocarpus bataua

Pollen dispersal shapes the local genetic structure of plant populations and determines the opportunity for local selection and genetic drift, but has been well studied in few animal-pollinated plants in tropical rainforests. Here, we characterise pollen movement for an insect-pollinated Neotropical canopy palm, Oenocarpus bataua, and relate these data to adult mating system and population genetic structure. The study covers a 130-ha parcel in which all adult trees (n=185) were mapped and genotyped at 12 microsatellite loci, allowing us to positively identify the source tree for 90% of pollination events (n=287 of 318 events). Mating system analysis showed O. bataua was effectively outcrossed (t(m)=1.02) with little biparental inbreeding (t(m)-t(s)=-0.005) and an average of 5.4 effective pollen donors (N(ep)) per female. Dispersal distances were relatively large for an insect-pollinated species (mean=303 m, max=1263 m), and far exceeded nearest-neighbour distances. Dispersal kernel modelling indicated a thin-tailed Weibull distribution offered the best fit to the genetic data, which contrasts with the fat-tailed kernels typically reported for pollen dispersal in trees. Preliminary analyses suggest that our findings may be explained, at least in part, by a relatively diffuse spatial and temporal distribution of flowering trees. Comparison with previously reported estimates of seed movement for O. bataua suggests that pollen and seed dispersal distances may be similar. These findings add to the growing body of information on dispersal in insect-pollinated trees, but underscore the need for continued research on tropical systems in general, and palms in particular.

Inter-populations genetic and morphological diversity in three Silene (Caryophyllaceae) species

The inter-populations morphological and genetic variations were studied in three species of Silene ( Silene indeprensa , Silene gynodioica and Silene crispans) of the section Auriculatae , which grow and form several populations in different regions of Iran. Morphological analysis of variance (ANOVA) and analysis of molecular (AMOVA) analyses showed the species distinctness. Unweighted paired group with arithmetic average (UPGMA) clustering of morphological characters and neighbor-joining (NJ) tree of molecular features almost separated the species from each other. In S. gynodioica , Soltaneiyes and Gheydar populations differed from the other populations in both morphological and molecular features, and in case of S. indeprensa , Ghorkhood and Hezarmasjed populations differed significantly from the other populations in both morphological and molecular features. Therefore, these populations are considered as a new subspecies in these two species. Some of the populations showed the presence of specific inter-simple sequence repeat (ISSR) band/locus, indicting genetic divergence of the populations possibly either due to local adaptations or genetic drift. Mantel test performed did not show significant correlation between morphological/molecular distance and geographical distance of the populations studied. Keywords: Diversity, ISSR, morphometry, Silene

Multiple Local and Recent Founder Effects of TGM1 in Spanish Families

BackgroundMutations in the TGM1 gene encoding transglutaminase 1 are a major cause of autosomal recessive congenital ichthyosis. In the Galician (NW Spain) population, three mutations, c.2278C>T, c.1223_1227delACAC and c.984+1G>A, were observed at high frequency, representing ∼46%, ∼21% and ∼13% of all TGM1 gene mutations, respectively. Moreover, these mutations were reported only once outside of Galicia, pointing to the existence of historical episodes of local severe genetic drift in this region.Methodology/Principal FindingsIn order to determine whether these mutations were inherited from a common ancestor in the Galician population, and to estimate the number of generations since their initial appearance, we carried out a haplotype-based analysis by way of genotyping 21 SNPs within and flanking the TGM1 gene and 10 flanking polymorphic microsatellite markers spanning a region of 12 Mb. Two linkage disequilibrium based methods were used to estimate the time to the most recent common ancestor (TMRCA), while a Bayesian-based procedure was used to estimate the age of the two mutations. Haplotype reconstruction from unphased genotypes of all members of the affected pedigrees indicated that all carriers for each of the two mutations harbored the same haplotypes, indicating common ancestry.Conclusions/SignificanceIn good agreement with the documentation record and the census, both mutations arose between 2,800–2,900 years ago (y.a.), but their TMRCA was in the range 600–1,290 y.a., pointing to the existence of historical bottlenecks in the region followed by population growth. This demographic scenario finds further support on a Bayesian Coalescent Analysis based on TGM1 haplotypes that allowed estimating the occurrence of a dramatic reduction of effective population size around 900–4,500 y.a. (95% highest posterior density) followed by exponential growth.

Determinants of extinction in fragmented plant populations: Crepis sancta (asteraceae) in urban environments

Local populations are subject to recurrent extinctions, and small populations are particularly prone to extinction. Both demographic (stochasticity and the Allee effect) and genetic factors (drift load and inbreeding depression) potentially affect extinction. In fragmented populations, regular dispersal may boost population sizes (demographic rescue effect) or/and reduce the local inbreeding level and genetic drift (genetic rescue effect), which can affect extinction risks. We studied extinction processes in highly fragmented populations of the common species Crepis sancta (Asteraceae) in urban habitats exhibiting a rapid turnover of patches. A four-year demographic monitoring survey and microsatellite genotyping of individuals allowed us to study the determinants of extinction. We documented a low genetic structure and an absence of inbreeding (estimated by multilocus heterozygosity), which suggest that genetic factors were not a major cause of patch extinction. On the contrary, local population size was the main factor in extinction, whereas connectivity was shown to decrease patch extinction, which we interpreted as a demographic rescue effect that was likely due to better pollination services for reproduction. This coupling of demographic and genetic tools highlighted the importance of dispersal in local patch extinctions of small fragmented populations connected by gene flow.