Maintenance of pre-mRNA secondary structure by epistatic selection.

Linkage disequilibrium between polymorphisms in a natural population may result from various evolutionary forces, including random genetic drift due to sampling of gametes during reproduction, restricted migration between subpopulations in a subdivided population, or epistatic selection. In this report, we present evidence that the majority of significant linkage disequilibria observed in introns of the alcohol dehydrogenase locus (Adh) of Drosophila pseudoobscura are due to epistatic selection maintaining secondary structure of precursor mRNA (pre-mRNA). Based on phylogenetic-comparative analysis and a likelihood approach, we propose secondary structure models of Adh pre-mRNA for the regions of the adult intron and intron 2 where clustering of linkage disequilibria has been observed. Furthermore, we applied the likelihood ratio test to the phylogenetically predicted secondary structure in intron 1. In contrast to the other two structures, polymorphisms associated with the more conserved stem-loop structure of intron 1 are in low frequency, and linkage disequilibria have not been observed. These findings are qualitatively consistent with a model of compensatory fitness interactions. This model assumes that mutations disrupting pairing in a secondary structural element are individually deleterious if they destabilize a functionally important structure; a second "compensatory" mutation, however, may restabilize the structure and restore fitness.

Flightless brown kiwis of New Zealand possess extremely subdivided population structure and cryptic species like small mammals.

Using allozymes and mtDNA sequences from the cytochrome b gene, we report that the brown kiwi has the highest levels of genetic structuring observed in birds. Moreover, the mtDNA sequences are, with two minor exceptions, diagnostic genetic markers for each population investigated, even though they are among the more slowly evolving coding regions in this genome. A major unexpected finding was the concordant split in molecular phylogenies between brown kiwis in the southern South Island and elsewhere in New Zealand. This basic phylogeographic boundary halfway down the South Island coincides with a fixed allele difference in the Hb nuclear locus and strongly suggests that two morphologically cryptic species are currently merged under one polytypic species. This is another striking example of how molecular genetic assays can detect phylogenetic discontinuities that are not reflected in traditional morphologically based taxonomies. However, reanalysis of the morphological characters by using phylogenetic methods revealed that the reason for this discordance is that most are primitive and thus are phylogenetically uninformative. Shared-derived morphological characters support the same relationships evident in the molecular phylogenies and, in concert with the molecular data, suggest that as brown kiwis colonized northward from the southern South Island, they retained many primitive characters that confounded earlier systematists. Strong subdivided population structure and cryptic species in brown kiwis seem to have evolved relatively recently as a consequence of Pleistocene range disjunctions, low dispersal power, and genetic drift in small populations.

Deriva genética de caracteres quantitativos em milho

A obtenção de genótipos superiores no melhoramento de plantas depende da existência de variabilidade genética. A existência de coleções de germoplasma representativas e a utilização de um tamanho adequado de amostra são fundamentais para a preservação das frequências alélicas e genotípicas, diminuindo a perda de variabilidade genética e postergando o aparecimento dos efeitos da deriva genética. Assim, teve-se como objetivo avaliar os efeitos da deriva genética em caracteres quantitativos em subpopulações de milho. Este estudo foi realizado a partir das populações originais BR-105 e BR-106, das quais 10 subpopulações foram obtidas em cada um dos cinco ciclos sucessivos de amostragem com tamanho efetivo reduzido, totalizando 50 subpopulações para cada população original, as quais foram posteriormente autofecundadas, gerando um nível a mais de endogamia. Os tratamentos foram constituídos de 10 amostras da população original sem autofecundação, 10 amostras com autofecundação, 50 subpopulações obtidas da população original e 50 subpopulações autofecundadas, totalizando 120 tratamentos para cada população, avaliados separadamente. Utilizou-se o delineamento em blocos casualizados no esquema de parcelas subdivididas em faixas hierárquico, em quatro ambientes com duas repetições por ambiente. Os caracteres avaliados foram produção de grãos (PG), prolificidade (PROL), comprimento e diâmetro de espigas (CE e DE), número de fileiras por espiga (NFE), número de grãos por fileira (NGF), altura de planta e espiga (AP e AE), florescimento masculino e feminino (FM e FF) e número de ramificações do pendão (NRP). Foram estimados os efeitos da deriva genética entre as médias das subpopulações nos dois níveis de endogamia e os efeitos da depressão por endogamia nas subpopulações dentro dos ciclos. Posteriormente, realizaram-se análises de regressão linear para as subpopulações nos dois níveis de endogamia, separadamente, e em conjunto. Foi verificada uma grande variação nas médias das subpopulações ao longo dos ciclos, indicando que a deriva genética causou diferenciação entre as mesmas e que estas se diferenciaram das populações originais. Detectaram-se efeitos significativos da deriva genética nas populações não autofecundadas para todos os caracteres avaliados, em maior número para PG, já que este caráter é mais sensível à deriva genética por possuir maior grau de dominância que os demais. Houve diminuição no número de estimativas de deriva significativas para as populações autofecundadas, incluindo mudanças na magnitude e no sinal das mesmas em relação às populações não autofecundadas. Para as estimativas de depressão por endogamia, os caracteres PG, NGF, FM e FF apresentaram maior quantidade de estimativas significativas que os demais. Para a maioria dos caracteres, a regressão linear explicou a maior parte da variação encontrada com o aumento dos coeficientes de endogamia. As populações BR-105 e BR-106, por terem estruturas genéticas distintas, apresentaram performances diferentes quanto aos efeitos da deriva genética. Enfim, como a deriva genética interfere na integridade genética das populações, torna-se importante considerar seus efeitos na coleta e manutenção dos bancos de germoplasma e nas populações utilizadas no melhoramento genético de plantas.

Gene-flow between populations of cotton bollworm Helicoverpa armigera (Lepidoptera: Noctuidae) is highly variable between years

Both large and small scale migrations of Helicoverpa armigera Hübner in Australia were investigated using AMOVA analysis and genetic assignment tests. Five microsatellite loci were screened across 3142 individuals from 16 localities in eight major cotton and grain growing regions within Australia, over a 38-month period (November 1999 to January 2003). From November 1999 to March 2001 relatively low levels of migration were characterized between growing regions. Substantially higher than average gene-flow rates and limited differentiation between cropping regions characterized the period from April 2001 to March 2002. A reduced migration rate in the year from April 2002 to March 2003 resulted in significant genetic structuring between cropping regions. This differentiation was established within two or three generations. Genetic drift alone is unlikely to drive genetic differentiation over such a small number of generations, unless it is accompanied by extreme bottlenecks and/or selection. Helicoverpa armigera in Australia demonstrated isolation by distance, so immigration into cropping regions is more likely to come from nearby regions than from afar. This effect was most pronounced in years with limited migration. However, there is evidence of long distance dispersal events in periods of high migration (April 2001-March 2002). The implications of highly variable migration patterns for resistance management are considered.

Reinforcement drives rapid allopatric speciation

Allopatric speciation results from geographic isolation between populations. In the absence of gene flow, reproductive isolation arises gradually and incidentally as a result of mutation, genetic drift and the indirect effects of natural selection driving local adaptation(1-3). In contrast, speciation by reinforcement is driven directly by natural selection against maladaptive hybridization(1,4). This gives individuals that choose the traits of their own lineage greater fitness, potentially leading to rapid speciation between the lineages(1,4). Reinforcing natural selection on a population of one of the lineages in a mosaic contact zone could also result in divergence of the population from the allopatric range of its own lineage outside the zone(4-6). Here we test this with molecular data, experimental crosses, field measurements and mate choice experiments in a mosaic contact zone between two lineages of a rainforest frog. We show that reinforcing natural selection has resulted in significant premating isolation of a population in the contact zone not only from the other lineage but also, incidentally, from the closely related main range of its own lineage. Thus we show the potential for reinforcement to drive rapid allopatric speciation.

A multilocus perspective on refugial isolation and divergence in rainforest skinks (Carlia)

To explore the evolutionary consequences of climate-induced fluctuations in distribution of rainforest habitat we contrasted demographic histories of divergence among three lineages of Australian rainforest endemic skinks. The red-throated rainbow skink, Carlia rubrigularis, consists of morphologically indistinguishable northern and southern mitochondrial DNA (mtDNA) lineages that are partially reproductively isolated at their parapatric boundary. The third lineage (C. rhomboidalis) inhabits rainforests just to the south of C. rubrigularis, has blue, rather than red-throated males, and for mtDNA is more closely related to southern C. rubrigularis than is northern C. rubrigularis. Multigene coalescent analyses supported more recent divergence between morphologically distinct lineages than between morphologically conservative lineages. There was effectively no migration and therefore stronger isolation between southern C. rubrigularis and C. rhomboidalis, and low unidirectional migration between morphologically conservative lineages of C. rubrigularis. We found little or no evidence for strong differences in effective population size, and hence different contributions of genetic drift in the demographic history of the three lineages. Overall the results suggest contrasting responses to long-term fluctuations in rainforest habitats, leading to varying opportunities for speciation.

Evolutionary neural networks : models and applications

The scaling problems which afflict attempts to optimise neural networks (NNs) with genetic algorithms (GAs) are disclosed. A novel GA-NN hybrid is introduced, based on the bumptree, a little-used connectionist model. As well as being computationally efficient, the bumptree is shown to be more amenable to genetic coding lthan other NN models. A hierarchical genetic coding scheme is developed for the bumptree and shown to have low redundancy, as well as being complete and closed with respect to the search space. When applied to optimising bumptree architectures for classification problems the GA discovers bumptrees which significantly out-perform those constructed using a standard algorithm. The fields of artificial life, control and robotics are identified as likely application areas for the evolutionary optimisation of NNs. An artificial life case-study is presented and discussed. Experiments are reported which show that the GA-bumptree is able to learn simulated pole balancing and car parking tasks using only limited environmental feedback. A simple modification of the fitness function allows the GA-bumptree to learn mappings which are multi-modal, such as robot arm inverse kinematics. The dynamics of the 'geographic speciation' selection model used by the GA-bumptree are investigated empirically and the convergence profile is introduced as an analytical tool. The relationships between the rate of genetic convergence and the phenomena of speciation, genetic drift and punctuated equilibrium arc discussed. The importance of genetic linkage to GA design is discussed and two new recombination operators arc introduced. The first, linkage mapped crossover (LMX) is shown to be a generalisation of existing crossover operators. LMX provides a new framework for incorporating prior knowledge into GAs.Its adaptive form, ALMX, is shown to be able to infer linkage relationships automatically during genetic search.

A comparative study of life history and gene flow in darters (Pisces: Percidae)

Gene flow, or the exchange of genes between populations, is important because it determines the evolutionary trajectory of a species, including the relative influences of genetic drift and natural selection in the process of population differentiation. Gene flow differs among species because of variation in dispersal capability and abundances across taxa, and historical forces related to geological or lineage history. Both history and ecology influence gene flow in potentially complicated ways, and accounting for their effects remains an important problem in evolutionary biology. This research is a comparative study of gene flow and life-history in a monophyletic group of stream fishes, the darters. As a first step in disentangling historical and ecological effects, I reconstructed the phylogenetic relationships of the study species from nucleotide sequences in the mtDNA control region. I then used this phylogeny and regional glaciation history to infer historical effects on life-history evolution and gene flow in 15 species of darters. Gene flow was estimated indirectly, using information from 20 resolvable and polymorphic allozyme loci. When I accounted for historical effects, comparisons across taxa revealed that gene flow rates were closely associated with differences in clutch sizes and reproductive investment patterns. I hypothesized that differences in larval dispersal among taxa explained this relationship. Results from a field study of larval drift were consistent with this hypothesis. Finally, I asked whether there was an interaction between species' ecology and genetic differentiation across biogeographically distinct regions. Information from allozymes and mtDNA sequences revealed that life history plays an important role in the magnitude of species divergence across biogeographic boundaries. These results suggested an important association between life histories and rates of speciation following an allopatric isolation event. This research, along with other studies from the literature, further illustrates the enormous potential of North American freshwater fishes as a system for studying speciation processes. ^

Impact of selection and demography on the diffusion of lactase persistence.

The lactase enzyme allows lactose digestion in fresh milk. Its activity strongly decreases after the weaning phase in most humans, but persists at a high frequency in Europe and some nomadic populations. Two hypotheses are usually proposed to explain the particular distribution of the lactase persistence phenotype. The gene-culture coevolution hypothesis supposes a nutritional advantage of lactose digestion in pastoral populations. The calcium assimilation hypothesis suggests that carriers of the lactase persistence allele(s) (LCT*P) are favoured in high-latitude regions, where sunshine is insufficient to allow accurate vitamin-D synthesis. In this work, we test the validity of these two hypotheses on a large worldwide dataset of lactase persistence frequencies by using several complementary approaches. Methodology We first analyse the distribution of lactase persistence in various continents in relation to geographic variation, pastoralism levels, and the genetic patterns observed for other independent polymorphisms. Then we use computer simulations and a large database of archaeological dates for the introduction of domestication to explore the evolution of these frequencies in Europe according to different demographic scenarios and selection intensities. Conclusions Our results show that gene-culture coevolution is a likely hypothesis in Africa as high LCT*P frequencies are preferentially found in pastoral populations. In Europe, we show that population history played an important role in the diffusion of lactase persistence over the continent. Moreover, selection pressure on lactase persistence has been very high in the North-western part of the continent, by contrast to the South-eastern part where genetic drift alone can explain the observed frequencies. This selection pressure increasing with latitude is highly compatible with the calcium assimilation hypothesis while the gene-culture coevolution hypothesis cannot be ruled out if a positively selected lactase gene was carried at the front of the expansion wave during the Neolithic transition in Europe.

Rare sex or out of reach equilibrium? The dynamics of F-IS in partially clonal organisms

Background: Partially clonal organisms are very common in nature, yet the influence of partial asexuality on the temporal dynamics of genetic diversity remains poorly understood. Mathematical models accounting for clonality predict deviations only for extremely rare sex and only towards mean inbreeding coefficient (F-IS) over bar < 0. Yet in partially clonal species, both F-IS < 0 and F-IS > 0 are frequently observed also in populations where there is evidence for a significant amount of sexual reproduction. Here, we studied the joint effects of partial clonality, mutation and genetic drift with a state-and-time discrete Markov chain model to describe the dynamics of F-IS over time under increasing rates of clonality. Results: Results of the mathematical model and simulations show that partial clonality slows down the asymptotic convergence to F-IS = 0. Thus, although clonality alone does not lead to departures from Hardy-Weinberg expectations once reached the final equilibrium state, both negative and positive F-IS values can arise transiently even at intermediate rates of clonality. More importantly, such "transient" departures from Hardy Weinberg proportions may last long as clonality tunes up the temporal variation of F-IS and reduces its rate of change over time, leading to a hyperbolic increase of the maximal time needed to reach the final mean (F-IS,F-infinity) over bar value expected at equilibrium. Conclusion: Our results argue for a dynamical interpretation of F-IS in clonal populations. Negative values cannot be interpreted as unequivocal evidence for extremely scarce sex but also as intermediate rates of clonality in finite populations. Complementary observations (e.g. frequency distribution of multiloci genotypes, population history) or time series data may help to discriminate between different possible conclusions on the extent of clonality when mean (F-IS) over bar values deviating from zero and/or a large variation of F-IS over loci are observed.

Exact moment calculations for genetic models with migration, mutation, and drift

Using properties of moment stationarity we develop exact expressions for the mean and covariance of allele frequencies at a single locus for a set of populations subject to drift, mutation, and migration. Some general results can be obtained even for arbitrary mutation and migration matrices, for example: (1) Under quite general conditions, the mean vector depends only on mutation rates, not on migration rates or the number of populations. (2) Allele frequencies covary among all pairs of populations connected by migration. As a result, the drift, mutation, migration process is not ergodic when any finite number of populations is exchanging genes. in addition, we provide closed form expressions for the mean and covariance of allele frequencies in Wright's finite-island model of migration under several simple models of mutation, and we show that the correlation in allele frequencies among populations can be very large for realistic rates of mutation unless an enormous number of populations are exchanging genes. As a result, the traditional diffusion approximation provides a poor approximation of the stationary distribution of allele frequencies among populations. Finally, we discuss some implications of our results for measures of population structure based on Wright's F-statistics.

Spatial population genetic structure reveals strong natal site fidelity in Echinocladius martini (Diptera: Chironomidae) in northeast Queensland, Australia

1. A diverse array of patterns has been reported regarding the spatial extent of population genetic structure and effective dispersal in freshwater macroinvertebrates. In river systems, the movements of many taxa can be restricted to varying degrees by the natural stream channel hierarchy. 2. In this study, we sampled populations of the non-biting freshwater midge Echinocladius martini in the Paluma bioregion of tropical northeast Queensland to investigate fine scale patterns of within- and among-stream dispersal and gene flow within a purported historical refuge. We amplified a 639 bp fragment of mitochondrial COI and analysed genetic structure using pairwise ΦST, hierarchical AMOVA, Mantel tests and a parsimony network. Genetic variation was partitioned among stream sections using Streamtree to investigate the effect of potential instream dispersal barriers. 3. The data revealed strong natal site fidelity and significant differentiation among neighbouring, geographically proximate streams. We found evidence for only episodic adult flight among sites on separate stream reaches. Overall, however, our data suggested that both larval and adult dispersal was largely limited to within a stream channel. 4. This may arise from a combination of the high density of riparian vegetation physically restricting dispersal and from the joint effects of habitat stability and large population sizes. Together these may mitigate the requirement for movement among streams to avoid inbreeding and local extinction due to habitat change and may thus enable persistence of upstream populations in the absence of regular compensatory upstream flight. Taken together, these data suggest that dispersal of E. martini is highly restricted, to the scale of only a few kilometres, and hence occurs predominantly within the natal stream.

The genetic effective and adult census size of an Australian population of tiger prawns (Penaeus esculentus)

This study compares estimates of the census size of the spawning population with genetic estimates of effective current and long-term population size for an abundant and commercially important marine invertebrate, the brown tiger prawn (Penaeus esculentus). Our aim was to focus on the relationship between genetic effective and census size that may provide a source of information for viability analyses of naturally occurring populations. Samples were taken in 2001, 2002 and 2003 from a population on the east coast of Australia and temporal allelic variation was measured at eight polymorphic microsatellite loci. Moments-based and maximum-likelihood estimates of current genetic effective population size ranged from 797 to 1304. The mean long-term genetic effective population size was 9968. Although small for a large population, the effective population size estimates were above the threshold where genetic diversity is lost at neutral alleles through drift or inbreeding. Simulation studies correctly predicted that under these experimental conditions the genetic estimates would have non-infinite upper confidence limits and revealed they might be overestimates of the true size. We also show that estimates of mortality and variance in family size may be derived from data on average fecundity, current genetic effective and census spawning population size, assuming effective population size is equivalent to the number of breeders. This work confirms that it is feasible to obtain accurate estimates of current genetic effective population size for abundant Type III species using existing genetic marker technology.

Life history of turbot in Icelandic waters: Intra- and inter-population genetic diversity and otolith tracking of environmental temperatures

The stock structure of turbot was investigated between samples from S-Norway, the Irish Sea and the Kattegat, using 12 microsatellite loci and compared to the turbot caught in Icelandic waters. Highly significant genetic differentiation was observed between samples from Kattegat and other areas. Significant genetic differentiation was also observed between the Irish Sea sample on one hand and Iceland and S-Norway on the other hand. No significant genetic differentiation was observed between Iceland and S-Norway. Otoliths of 25 turbot, age ranging from 3 to 19 years, were subjected to nearly 300 mass spectrometry determinations of stable oxygen and carbon isotopes. Oxygen isotope composition (δ¹⁸O) in the otolith samples was used to estimate ambient temperature at time of otolith accretion, and yielded estimated temperatures experienced by the turbot ranging from 3 to 15°C. Overall, the genetic analysis indicates panmixia between turbot in Icelandic and Norwegian waters. While the extensive migration of larvae between Norway and Iceland is unlikely, passive drift of turbot larva from other areas (e.g. Ireland) cannot be ruled out.