The mode of reproduction of the soil ascomycetous fungus Emericella nidulans of Israeli populations was studied using 15 microsatellite (simple sequence repeats or SSR) trinucleotide markers. The study was performed in three canyons: two located in the northern part of Israel (Mount Carmel and western Upper Galilee) and one in the southern Negev desert. In each canyon, E. nidulans strains were isolated from the opposite slopes and (in the desert canyon) the valley bottom. Testing the reproductive structure of the populations indicated the presence of sexuality in the northern population and predominant clonality in the desert population. The predominantly clonal character of the desert population of E. nidulans was explained by the assumption that for relevant multilocus systems of a fungus, only several haplotypes can survive in the rather constant, extremely stressful desert conditions. Additionally, the very low density of E. nidulans populations in the soil of the desert canyon, which reduces the probability of finding a sexual partner, might favour predominant clonality via selfing. Increasing sexuality in E. nidulans populations on the north-facing slopes of the northern canyons may be a result of biotic stress (pressure of competitive fungal species), due to the more mild ecological conditions in these canyons.

In the C1 population of Drosophila melanogaster of moderate effective size (≈500), which was genetically invariant in its origin, we studied the regeneration by spontaneous mutation of the genetic variance for two metric traits [abdominal (AB) and sternopleural (ST) bristle number] and that of the concealed mutation load for viability, together with their temporal stability, using alternative selection models based on mutational parameters estimated in the C1 genetic background. During generations 381–485 of mutation accumulation (MA), the additive variances of AB and ST approached the levels observed in standing laboratory populations, fluctuating around their expected equilibrium values under neutrality or under relatively weak causal stabilizing selection. This type of selection was required to simultaneously account for the observed additive variance in our population and for those previously reported in natural and laboratory populations, indicating that most mutations affecting bristle traits would only be subjected to weak selective constraints. Although gene action for bristles was essentially additive, transient situations occurred where inbreeding resulted in a depression of the mean and an increase of the additive variance. This was ascribed to the occasional segregation of mutations of large recessive effects. On the other hand, the observed non-lethal inbreeding depression for viability must be explained by the segregation of alleles of considerable and largely recessive deleterious effects, and the corresponding load concealed in the heterozygous condition was found to be temporally stable, as expected from tighter constraints imposed by natural selection.

A two-step procedure is presented for analysis of θ (FST) statistics obtained for a battery of loci, which eventually leads to a clustered structure of values. The first step uses a simple Bayesian model for drawing samples from posterior distributions of θ-parameters, but without constructing Markov chains. This step assigns a weakly informative prior to allelic frequencies and does not make any assumptions about evolutionary models. The second step regards samples from these posterior distributions as ‘data’ and fits a sequence of finite mixture models, with the aim of identifying clusters of θ-statistics. Hopefully, these would reflect different types of processes and would assist in interpreting results. Procedures are illustrated with hypothetical data, and with published allelic frequency data for type II diabetes in three human populations, and for 12 isozyme loci in 12 populations of the argan tree in Morocco.

Inbreeding depression has important implications for a wide range of biological phenomena, such as inbreeding avoidance, the evolution and maintenance of sexual systems and extinction rates of small populations. Previous investigations have asked how inbreeding depression evolves in single and subdivided populations through the fixation of deleterious mutations as a result of drift, as well as through the expression of deleterious mutations segregating in a population. These studies have focused on the effects of mutation and selection at single loci, or at unlinked loci. Here, we used simulations to investigate the evolution of genetic load and inbreeding depression due to multiple partially linked loci in metapopulations. Our results indicate that the effect of linkage depends largely on the kinds of deleterious alleles involved. For weakly deleterious and partially recessive mutations, the speed of mutation accumulation at segregating loci in a random-mating subdivided population of a given structure tends to be retarded by increased recombination between adjacent loci – although the highest numbers of fixation of slightly recessive mutant alleles were for low but finite recombination rates. Although linkage had a relatively minor effect on the evolution of metapopulations unless very low values of recombination were assumed, close linkage between adjacent loci tended to enhance population structure and population turnover. Finally, within-deme inbreeding depression, between-deme inbreeding depression and heterosis generally increased with decreased recombination rates. Moreover, increased selfing reduced the effective amount of recombination, and hence the effects of tight linkage on metapopulation genetic structure were decreased with increasing selfing. In contrast, linkage had little effect on the fate of lethal and highly recessive alleles. We compare our simulation results with predictions made by models that ignore the complexities of recombination.

A comprehensive understanding of the genetic basis of phenotypic adaptation in nature requires the identification of the functional allelic variation underlying adaptive phenotypes. The manner in which organisms respond to temperature extremes is an adaptation in many species. In the current study, we investigate the role of molecular variation in senescence marker protein-30 (Smp-30) on natural phenotypic variation in cold tolerance in Drosophila melanogaster. Smp-30 encodes a product that is thought to be involved in the regulation of Ca2+ ion homeostasis and has been shown previously to be differentially expressed in response to cold stress. Thus, we sought to assess whether molecular variation in Smp-30 was associated with natural phenotypic variation in cold tolerance in a panel of naturally derived inbred lines from a population in Raleigh, North Carolina. We identified four non-coding polymorphisms that were strongly associated with natural phenotypic variation in cold tolerance. Interestingly, two polymorphisms that were in close proximity to one another (2 bp apart) exhibited opposite phenotypic effects. Consistent with the maintenance of a pair of antagonistically acting polymorphisms, tests of molecular evolution identified a significant excess of maintained variation in this region, suggesting balancing selection is acting to maintain this variation. These results suggest that multiple mutations in non-coding regions can have significant effects on phenotypic variation in adaptive traits within natural populations, and that balancing selection can maintain polymorphisms with opposite effects on phenotypic variation.

The objective of this study was to investigate, both empirically and deterministically, the ability to explain genetic variation resulting from a copy number polymorphism (CNP) by including the CNP, either by its genotype or by a continuous derivation thereof, alone or together with a nearby single nucleotide polymorphism (SNP) in the model. This continuous measure of a CNP genotype could be a raw hybridization measurement, or a predicted CNP genotype. Results from simulations showed that the linkage disequilibrium (LD) between an SNP and CNP was lower than LD between two SNPs, due to the higher mutation rate at the CNP loci. The model R2 values from analysing the simulated data were very similar to the R2 values predicted with the deterministic formulae. Under the assumption that x copies at a CNP locus lead to the effect of x times the effect of 1 copy, including a continuous measure of a CNP locus in the model together with the genotype of a nearby SNP increased power to explain variation at the CNP locus, even when the continuous measure explained only 15% of the variation at the CNP locus.

The incorporation of genetic information such as quantitative trait loci (QTL) data into breeding schemes has become feasible as DNA technologies have advanced. Such strategies allow the frequency of desirable QTL to be controlled over a predefined time frame, allowing the allele trajectory for QTL to be manipulated. A continuous approximation to changes in allele frequency was developed to approximate the selection procedure as a continuous rather than a discrete process, and analytical solutions were obtained, which shed light on how allele trajectories behave under different objective functions. Three different objectives were considered: (1) minimizing the total selection intensity, (2) minimizing the sum of squared selection intensities and (3) equalizing the selection intensity applied over time. Simulations and genetic algorithms were performed to test the accuracy and robustness of the continuous approximation. Theory shows firstly that the total selection intensity required for moving an allele from a starting frequency to another frequency point can be predicted independent of its trajectory, and secondly that objectives (2) and (3) are equivalent as the number of selection opportunities (T) becomes large. The prediction of total selection intensity provides a good fit for these two objectives, with the accuracy of prediction improving as T increases. However, for (1) the continuous approximation does not fit due to the existence of a discontinuous solution in which the continuous approximation is applied before the frequency of the selected allele reaches 0·5 followed by rapid fixation.