Is realised connectivity among populations of aquatic fauna predictable from potential connectivity?

1. Effective management of aquatic fauna requires knowledge of the ways in which populations in different catchments and sub‐catchments are connected. A powerful way to estimate this is using genetic markers, which provide information on the average amount of genetic connectivity among populations over generations. Although many studies of genetic connectivity have appeared in the literature, there are innumerable species that have not been studied. 2. This study explores whether it is possible to make broad generalisations about population connectivity, based on readily available information in the form of species life history and architecture of the aquatic habitat. 3. A number of models have been proposed to explain the pattern of connectivity shown by aquatic species with different life‐history characteristics, for example, the stream hierarchy model, Isolation by Distance, the Death Valley Model, the headwater model and panmixia. 4. In this study, we propose a dichotomous key to assign species to different models of potential connectivity. The key is based on a few very simple questions about the life history of the species and the geographical arrangement of study sites. We then assessed the performance of the key with 109 data sets of Australian fish and macroinvertebrates, using genetic data to provide an estimate of realised connectivity. 5. The realised connectivity fitted the proposed potential connectivity model in over 70% of cases, and we suggest this might be a useful initial approach for managers where empirical data are lacking.     

The influence of mutation, recombination, population history, and selection on patterns of genetic diversity in Neisseria meningitidis

Patterns of genetic diversity within populations of human pathogens, shaped by the ecology of host-microbe interactions, contain important information about the epidemiological history of infectious disease. Exploiting this information, however, requires a systematic approach that distinguishes the genetic signal generated by epidemiological processes from the effects of other forces, such as recombination, mutation, and population history. Here, a variety of quantitative techniques were employed to investigate multilocus sequence information from isolate collections of Neisseria meningitidis, a major cause of meningitis and septicemia world wide. This allowed quantitative evaluation of alternative explanations for the observed population structure. A coalescent-based approach was employed to estimate the rate of mutation, the rate of recombination, and the size distribution of recombination fragments from samples from disease-associated and carried meningococci obtained in the Czech Republic in 1993 and a global collection of disease-associated isolates collected globally from 1937 to 1996. The parameter estimates were used to reject a model in which genetic structure arose by chance in small populations, and analysis of molecular variation showed that geographically restricted gene flow was unlikely to be the cause of the genetic structure. The genetic differentiation between disease and carriage isolate collections indicated that, whereas certain genotypes were overrepresented among the disease-isolate collections (the "hyperinvasive" lineages), disease-associated and carried meningococci exhibited remarkably little differentiation at the level of individual nucleotide polymorphisms. In combination, these results indicated the repeated action of natural selection on meningococcal populations, possibly arising from the coevolutionary dynamic of host-pathogen interactions.     

Implications of host genetic variation on the risk and prevalence of infectious diseases transmitted through the environment

Previous studies have shown that host genetic heterogeneity in the response to infectious challenge can affect the emergence risk and the severity of diseases transmitted through direct contact between individuals. However, there is substantial uncertainty about the degree and direction of influence owing to different definitions of genetic variation, most of which are not in line with the current understanding of the genetic architecture of disease traits. Also, the relevance of previous results for diseases transmitted through environmental sources is unclear. In this article a compartmental genetic-epidemiological model was developed to quantify the impact of host genetic diversity on epidemiological characteristics of diseases transmitted through a contaminated environment. The model was parameterized for footrot in sheep. Genetic variation was defined through continuous distributions with varying shape and degree of dispersion for different disease traits. The model predicts a strong impact of genetic heterogeneity on the disease risk and its progression and severity, as well as on observable host phenotypes, when dispersion in key epidemiological parameters is high. The impact of host variation depends on the disease trait for which variation occurs and on environmental conditions affecting pathogen survival. In particular, compared to homogeneous populations with the same average susceptibility, disease risk and severity are substantially higher in populations containing a large proportion of highly susceptible individuals, and the differences are strongest when environmental contamination is low. The implications of our results for the recording and analysis of disease data and for predicting response to selection are discussed.     

Genetic differentiation of Alaska Chinook salmon: the missing link for migratory studies

Most information about Chinook salmon genetic diversity and life history originates from studies from the West Coast USA, western Canada and southeast Alaska; less is known about Chinook salmon from western and southcentral Alaska drainages. Populations in this large area are genetically distinct from populations to the south and represent an evolutionary legacy of unique genetic, phenotypic and life history diversity. More genetic information is necessary to advance mixed stock analysis applications for studies involving these populations. We assembled a comprehensive, open-access baseline of 45 single nucleotide polymorphisms (SNPs) from 172 populations ranging from Russia to California. We compare SNP data from representative populations throughout the range with particular emphasis on western and southcentral Alaska. We grouped populations into major lineages based upon genetic and geographic characteristics, evaluated the resolution for identifying the composition of admixtures and performed mixed stock analysis on Chinook salmon caught incidentally in the walleye pollock fishery in the Bering Sea. SNP data reveal complex genetic structure within Alaska and can be used in applications to address not only regional issues, but also migration pathways, bycatch studies on the high seas, and potential changes in the range of the species in response to climate change.     

The genetic variance but not the genetic covariance of life‐history traits changes towards the north in a time‐constrained insect

Seasonal time constraints are usually stronger at higher than lower latitudes and can exert strong selection on life‐history traits and the correlations among these traits. To predict the response of life‐history traits to environmental change along a latitudinal gradient, information must be obtained about genetic variance in traits and also genetic correlation between traits, that is the genetic variance‐covariance matrix, G . Here, we estimated G for key life‐history traits in an obligate univoltine damselfly that faces seasonal time constraints. We exposed populations to simulated native temperatures and photoperiods and common garden environmental conditions in a laboratory set‐up. Despite differences in genetic variance in these traits between populations (lower variance at northern latitudes), there was no evidence for latitude‐specific covariance of the life‐history traits. At simulated native conditions, all populations showed strong genetic and phenotypic correlations between traits that shaped growth and development. The variance–covariance matrix changed considerably when populations were exposed to common garden conditions compared with the simulated natural conditions, showing the importance of environmentally induced changes in multivariate genetic structure. Our results highlight the importance of estimating variance–covariance matrixes in environments that mimic selection pressures and not only trait variances or mean trait values in common garden conditions for understanding the trait evolution across populations and environments.     

Evolution of the G-matrix in life history traits in the common frog during a recent colonisation of an island system

Studies of genetic correlations between traits that ostensibly channel the path of evolution away from the direction of natural selection require information on key aspects such as ancestral phenotypes, the duration of adaptive evolution, the direction of natural selection, and genetic covariances. In this study we provide such information in a frog population system. We studied adaptation in life history traits to pool drying in frog populations on islands of known age, which have been colonized from a mainland population. The island populations show strong local adaptation in development time and size. We found that the first eigenvector of the variance–covariance matrix (g _max) had changed between ancestral mainland populations and newly established island populations. Interestingly, there was no divergence in g _max among island populations that differed in their local adaptation in development time and size. Thus, a major change in the genetic covariance of life-history traits occurred in the colonization of the island system, but subsequent local adaptation in development time took place despite the constraints imposed by the genetic covariance structure.     

Niche expansion leads to small-scale adaptive divergence along an elevation gradient in a medium-sized passerine bird

Niche expansion can lead to adaptive differentiation and speciation, but there are few examples from contemporary niche expansions about how this process is initiated. We assess the consequences of a niche expansion by Mexican jays (Aphelocoma ultramarina) along an elevation gradient. We predicted that jays at high elevation would have straighter bills adapted to feeding on pine cones, whereas jays at low elevation would have hooked bills adapted to feeding on acorns. We measured morphological and genetic variation of 95 adult jays and found significant differences in hook length between elevations in accordance with predictions, a pattern corroborated by analysis at the regional scale. Genetic results from microsatellite and mtDNA variation support phenotypic differentiation in the presence of gene flow coupled with weak, but detectable genetic differentiation between high- and low-elevation populations. These results demonstrate that niche expansion can lead to adaptive divergence despite gene flow between parapatric populations along an elevation gradient, providing information on a key precursor to ecological speciation.     

Genetic markers in studies on dreissenides (Dreissenidae,Bivalvia)

This review summarizes published data on the genetic markers used in studies of dreissenide invasions. Causes of genetic differences between local populations are discussed. It is shown that information about the genetic diversity of populations obtained by marker polymorphism analysis should be compared to study invasion directions.     

Study of interaction of wild soybean subpopulations (Glycine soja) in the valley of the Tsukanovka river in the south of Far East of Russia

A comparative study of the genetic structure of natural and anthropogenic populations of G. soja gives significant information about formation of different populations, and allows developing measures for preservation of unique natural gene bank of wild soybean, the species closely related to cultivated soybean. In this study, ISSR markers were used to carry out a comparative analysis of genetic structure of natural and anthropogenic subpopulations of G. soja for studying possible mutual influence of subpopulations of anthropogenic and natural phytocenosis on the formation of their genetic diversity and to study genetic structure of natural subpopulations of wild soybean in the contact places between the two types ofcenoses. As a result, the characteristics that describe the genetic diversity of studied populations have been identified and the important role of an interaction between subpopulations of different phytocenoses on formation of the spatial genetic structure of population in the valley of Tsukanovka river has been demonstrated.     

Mutation@A Glance: An Integrative Web Application for Analysing Mutations from Human Genetic Diseases

Although mutation analysis serves as a key part in making a definitive diagnosis about a genetic disease, it still remains a time-consuming step to interpret their biological implications through integration of various lines of archived information about genes in question. To expedite this evaluation step of disease-causing genetic variations, here we developed Mutation@A Glance (http://rapid.rcai.riken.jp/mutation/), a highly integrated web-based analysis tool for analysing human disease mutations; it implements a user-friendly graphical interface to visualize about 40 000 known disease-associated mutations and genetic polymorphisms from more than 2600 protein-coding human disease-causing genes. Mutation@A Glance locates already known genetic variation data individually on the nucleotide and the amino acid sequences and makes it possible to cross-reference them with tertiary and/or quaternary protein structures and various functional features associated with specific amino acid residues in the proteins. We showed that the disease-associated missense mutations had a stronger tendency to reside in positions relevant to the structure/function of proteins than neutral genetic variations. From a practical viewpoint, Mutation@A Glance could certainly function as a ‘one-stop’ analysis platform for newly determined DNA sequences, which enables us to readily identify and evaluate new genetic variations by integrating multiple lines of information about the disease-causing candidate genes.     

The IL-23/IL-17 pathway in human chronic inflammatory diseases – new insight from genetics and targeted therapies

Chronic inflammatory diseases such as rheumatoid arthritis, inflammatory bowel disease, spondyloarthritis and psoriasis cause significant morbidity and are a considerable burden for the patients in terms of pain, impaired function and diminished quality of life, as well as for society, because of the associated high health-care costs, and loss of productivity. Our limited understanding of the pathogenic mechanisms involved in these diseases currently hinders early diagnosis and the development of more specific and effective therapies.The past years have been marked by considerable progress in our insight of the genetic basis of many diseases. In particular, genome-wide association studies (GWAS) performed with thousands of patients have provided detailed information about the genetic variants associated with a large number of chronic inflammatory diseases. These studies have brought to the forefront many genes linked to signaling pathways that were not previously known to be involved in pathogenesis, pointing to new directions in the study of disease mechanisms. GWAS also provided fundamental evidence for a key role of the immune system in the pathogenesis of these diseases, because many of the identified loci map to genes involved in different immune processes. However, the mechanisms by which disease-associated genetic variants act on disease development and the targeted cell populations remain poorly understood. The challenge of the post-GWAS era is to understand how these variants affect pathogenesis, to allow translation of genetic data into better diagnostics and innovative treatment strategies.Here, we review recent results that document the importance of the IL-23/IL-17 pathway for the pathogenesis of several chronic inflammatory diseases and summarize data that demonstrate how therapeutic targeting of this pathway can benefit affected patients.     

Ethical issues in human genome research.

In addition to provocative questions about science policy, research on the human genome will generate important ethical questions in at least three categories. First, the possibility of greatly increased genetic information about individuals and populations will require choices to be made about what that information should be and about who should control the generation and dissemination of genetic information. Presymptomatic testing, carrier screening, workplace genetic screening, and testing by insurance companies pose significant ethical problems. Second, the burgeoning ability to manipulate human genotypes and phenotypes raises a number of important ethical questions. Third, increasing knowledge about genetic contributions to ethically and politically significant traits and behaviors will challenge our self-understanding and social institutions.     

Diffusion of the Nearctic leafhopper Scaphoideus titanus Ball in Europe: a consequence of human trading activity

Scaphoideus titanus Ball is a Nearctic leafhopper that was introduced for the first time in Europe probably at the beginning of the 20th century. In Europe, this species is a specialist on cultivated grapevines and is of great economic importance as the vector of Flavescence dorée (FD), a Grapevine Yellows disease caused by Candidatus Phytoplasma vitis. The Random Amplified Polymorphic DNA (RAPD) technique was employed to obtain genetic information about the diffusion and the structure of S. titanus populations. Two American and 14 European populations were analysed. A total of 188 reproducible bands, obtained from three arbitrary primers, were considered to assess the amount and the pattern of genetic variation within and among leafhopper populations. American populations showed high levels of intra-population polymorphism and dissimilarity and appeared to be the most isolated of all the tested samples. The results confirm the historical role of American samples as the sources for the more recently founded European populations. RAPD analyses revealed a weak genetic structure of European samples that could probably be explained invoking the human role in their diffusion. The non-natural spreading of S. titanus across Europe is in fact attributable to the exchange of grapevine canes and grafts carrying eggs that the insect laid under the bark to overwinter.     

Genome-Wide High-Resolution Mapping by Recurrent Intermating Using Arabidopsis Thaliana as a Model

We demonstrate a method for developing populations suitable for genome-wide high-resolution genetic linkage mapping, by recurrent intermating among F(2) individuals derived from crosses between homozygous parents. Comparison of intermated progenies to F(2) and ``recombinant inbred' (RI) populations from the same pedigree corroborate theoretical expectations that progenies intermated for four generations harbor about threefold more information for estimating recombination fraction between closely linked markers than either RI-selfed or F(2) individuals (which are, in fact, equivalent in this regard). Although intermated populations are heterozygous, homozygous ``intermated recombinant inbred' (IRI) populations can readily be generated, combining additional information afforded by intermating with the permanence of RI populations. Intermated populations permit fine-mapping of genetic markers throughout a genome, helping to bridge the gap between genetic map resolution and the DNA-carrying capacity of modern cloning vectors, thus facilitating merger of genetic and physical maps. Intermating can also facilitate high-resolution mapping of genes and QTLs, accelerating map-based cloning. Finally, intermated populations will facilitate investigation of other fundamental genetic questions requiring a genome-wide high-resolution analysis, such as comparative mapping of distantly related species, and the genetic basis of heterosis.     

Genetic diversity and disease susceptibility.

The range of genetic diversity within human populations is enormous. Genetic susceptibility to common chronic disease is a significant part of this genetic diversity, which also includes a variety of rare clear-cut inherited diseases. Modern DNA-based genomic analysis can now routinely lead to the identification of genes involved in disease susceptibility, provides the basis for genetic counselling in affected families, and more widely for a genetically targeted approach to disease prevention. This naturally raises problems concerning the use of information on an individual''s decisions, but for employment, and health and life insurance.     

UNUSUAL POPULATION GENETICS OF A PARASITIC NEMATODE: mtDNA VARIATION WITHIN AND AMONG POPULATIONS

Very little is known about the distribution of genetic variance within and among populations of parasitic helminths. In this study we used mitochondrial DNA (mtDNA) restriction fragment analysis to describe the population genetic structure of Ostertagia ostertagi, a nematode parasite of cattle, in the United States. Estimates of within-population mtDNA diversity are 5 to 10 times greater than typical estimates reported for species in other taxa. Although populations are genetically differentiated for a key life–history trait, greater than 98% of the total genetic diversity is partitioned within populations, and the geographic distribution of individual mtDNA haplotypes suggests high gene flow among populations.     

植物居群的基因流动态及其相关适应进化的研究进展

生物自然居群间的基因流不但可以阻止遗传分化以维持物种的完整性, 而且也能积极响应生物多样化的进程。理解与基因流相关的适应性进化及其内在机理将有助于我们更好地认识生物物种形成和多样化的原始动力以及真正原因。该文通过对植物种内和种间居群基因流动态进行讨论, 阐述了近年来有关植物基因流动态的一些重要理论观念和研究进展, 以期为相关领域动态及趋势研究提供参考。     

植物居群的基因流动态及其相关适应进化的研究进展

生物自然居群间的基因流不但可以阻止遗传分化以维持物种的完整性,而且也能积极响应生物多样化的进程。理解与基因流相关的适应性进化及其内在机理将有助于我们更好地认识生物物种形成和多样化的原始动力以及真正原因。该文通过对植物种内和种间居群基因流动态进行讨论,阐述了近年来有关植物基因流动态的一些重要理论观念和研究进展,以期为相关领域动态及趋势研究提供参考。     

Isolation and characterization of polymorphic microsatellites for the bastard sole (Microchirus azevia)

The bastard sole (Microchirus azevia) is a species of commercial interest in Spain. Nevertheless, little information is currently available about the genetic characteristics of wild populations. In this survey, we have developed eight new microsatellites using an enriched genome library protocol. Primers were screened on a total of 54 individuals from two wild populations (Mediterranean and Atlantic) from the south coast of Spain, revealing six to 18 alleles per locus with expected heterozygosities ranging from 0.51 to 0.94. These markers can potentially be useful tools for use in population genetic studies.     

Evolutionary morphology of human skeletal characteristics

Human skeletal morphology has been a central focus of physical anthropology since the origin of the discipline about a century ago. Over that period skeletally-related characteristics, continuous and discontinuous, have been studied extensively in present and past populations. Through time our awareness of the interactions between the genetic and environmental influences reflected in skeletally-related phenotypes has become increasingly detailed and sophisticated. This paper reviews our growing knowledge of the genetic basis of human skeletal morphology, with particular emphasis on the significance of this information for the reconstruction of relationships among populations distributed broadly in space and time.