Transposable elements (TEs) are genomic parasites that amplify their own representation on hosts' chromosomes by inserting into new positions. It is traditionally thought that their copy number is regulated by purifying selection that eliminates hosts with higher than average TE abundance. Here, we stress that selection due to beneficial or harmful interactions between TEs introduces a whole new dimension, with implications for TE evolutionary trajectories and TE loads on hosts. This framework poses new questions requiring conceptual and experimental advances. Considering primarily Drosophila data, we make a case for within host selection on TEs by thinking expansively about the lifecycle of several TE families.

Dissection of quantitative traits to the nucleotide level requires phenotypic and genotypic analysis of traits on a genome scale. Here we discuss the set of community-wide genetic and molecular resources, including panels of specific types of inbred lines and high density resequencing and SNP detection, that will facilitate such studies.

In Drosophila melanogaster, the maternally inherited endocellular microbe Wolbachia causes cytoplasmic incompatibility (CI) in crosses between infected males and uninfected females. CI results in a reduction in the number of eggs that hatch. The level of CI expression in this species has been reported as varying from partial (a few eggs fail to hatch) to nonexistent (all eggs hatch). We show that male age in this host species has a large impact on the level of CI exhibited and explains much of this variability. Strong CI is apparent when young males are used in crosses. CI declines rapidly with male age, particularly when males are repeatedly mated. Wolbachia from a Canton S line that was previously reported as not causing CI does in fact induce CI when young males are used in crosses, albeit at a weaker level than in other D. melanogaster strains. The strain differences in CI expression are due to host background effects rather than differences in Wolbachia strains. These results highlight the importance of undertaking crosses with a range of male ages and nuclear backgrounds before ascribing particular host phenotypes to Wolbachia strains.

An allele of intersex (ix5) of Drosophila melanogaster has been characterized. The genetic analysis of the allele demonstrated that like other point mutations of ix, the ix5 allele also transformed diplo-X individuals into intersexes. The ix5 mutation also affects the arrangement of sex comb bristles on the forelegs of males, although they had morphologically nearly normal male genitalia. They often fail to display a sustained pattern of courtship activity when tested. Orcein-stained squash preparations of testes from ix5 males revealed a defect in spermatogenesis. Our results, taken together with those of McRobert & Tompkins (1985), indicate that the ix+ gene also functions in male sex determination.

Positive and negative selection on indel variation may explain the correlation between intron length and recombination levels in natural populations of Drosophila. A nucleotide sequence analysis of the 3·5 kilobase sequence of the alcohol dehydrogenase (Adh) region from 139 Drosophila pseudoobscura strains and one D. miranda strain was used to determine whether positive or negative selection acts on indel variation in a gene that experiences high levels of recombination. A total of 30 deletion and 36 insertion polymorphisms were segregating within D. pseudoobscura populations and no indels were fixed between D. pseudoobscura and its two sibling species D. miranda and D. persimilis. The ratio of Tajima's D to its theoretical minimum value (Dmin) was proposed as a metric to assess the heterogeneity in D among D. pseudoobscura loci when the number of segregating sites differs among loci. The magnitude of the D/Dmin ratio was found to increase as the rate of population expansion increases, allowing one to assess which loci have an excess of rare variants due to population expansion versus purifying selection. D. pseudoobscura populations appear to have had modest increases in size accounting for some of the observed excess of rare variants. The D/Dmin ratio rejected a neutral model for deletion polymorphisms. Linkage disequilibrium among pairs of indels was greater than between pairs of segregating nucleotides. These results suggest that purifying selection removes deletion variation from intron sequences, but not insertion polymorphisms. Genome rearrangement and size-dependent intron evolution are proposed as mechanisms that limit runaway intron expansion.

DNA variation was studied in a 2.2 kb region of the regulatory gene Atmyb2 using 20 ecotypes of Arabidopsis thaliana and one accession each of Arabis gemmifera and Arabidopsis himalaica. Nucleotide diversity (π) in the region was 0.0027, which was lower than for other loci in A. thaliana. The MYB domain of the Atmyb2 gene (π = 0.0036) had a larger variation than the non-MYB region (π = 0.0013). Tajima's test and Fu and Li's test did not give a significant result. In contrast to the low level of polymorphism, the degree of divergence of the Atmyb2 region was higher between A. thaliana and A. gemmifera (K = 0.0730) than for other loci. The MYB domain (K = 0.0436) had smaller divergence than the non-MYB region (K = 0.0939). The HKA test detected significant discordance in the ratio of polymorphism to divergence in some comparisons. The pattern of low polymorphism and high divergence, which is mainly observed in the non-MYB region of the gene, is inconsistent with the neutral mutation theory. Strong purifying selection after establishment of A. thaliana and a species-specific adaptive process could be invoked to account for this pattern of polymorphism and divergence of Atmyb2.

In the first 25 generations of his classical mutation accumulation experiment, T. Mukai estimated a large rate of early linear decay for the relative viability of Drosophila melanogaster chromosome II (ΔMII = 0.004). Mukai forced through zero the regression of viability decline on generation number, but it has recently been shown (Fry, 2001) that a similar decline (ΔMII = 0.006) is obtained from unforced regression even if generation 32 instead of generation 25 (whose validity has been questioned) is included. We show that, from the perspective of the whole long-term experiment, it is hard to decide up to which generation viability can be considered to decline linearly. Depending on this decision, and on whether or not the regression is forced through the origin, very different estimates are obtained. Furthermore, the particular behaviour of the lines used as control suggests that they could have been different from the remaining lines at the beginning of the experiment, and casts doubts on the adequacy of a forced regression. Estimates from the linear unforced regression (ΔMII = 0.011) or from the linear term in a quadratic unforced regression (ΔMII = 0.001) are very different. The data fit both models very well, and the choice between them should be based on biological grounds.

A statistical test for the difference in the amounts of DNA variation between two populations is developed. The test statistic involves the covariance of the amount of variation between two populations, which is given by a function of their divergence time, T0. Accordingly, the power (rejection probability) of the test depends on T0. In this article, T0 is treated as unknown because it is very difficult to estimate. The test is most conservative when T0 = ∞ is assumed because the covariance is zero. If T0 = 0 is assumed, the largest value of the rejection probability is obtained. Thus, the test provides a range of rejection probability unless we have a reliable estimate of T0. The test is applied to the PgiC region in three mustard species: Leavenworthia stylosa, L. crassa and L. uniflora. The results of our test show that the level of variation in L. stylosa is significantly higher than those in the other species.

We have isolated and characterized 77 novel microsatellites from two species, Drosophila dunni and Drosophila nigrodunni, which are closely related Caribbean-island endemics from the Drosophila cardini species group. These species are very distantly related to all other Drosophila from which microsatellites have previously been characterized. We find that the average length of microsatellites isolated in these species is quite small, with an overall mean length of 9·8 repeat units for dinucleotide microsatellites in the two study species. The nucleotide composition of dinucleotides differs between the two species: D. nigrodunni has a predominance of (AC/GT)n repeats, whereas D. dunni has equal numbers of (AC/GT)n and (AG/CT)n repeats. Tri- and tetranucleotide repeats are not abundant in either species. We assayed the variability of eight microsatellites in a closely related third species, Drosophila arawakana, using wild-caught individuals from the island of Guadeloupe. We found the microsatellites to be extremely variable in this population, with observed heterozygosities ranging from 0·541 to 0·889. DNA amplification trials suggest that these eight microsatellites are widely conserved across the D. cardini group, with five of the eight producing amplification products in every species tested. However, the loci are very poorly conserved over greater phylogenetic distances. DNA amplification of the microsatellite loci was unreliable in members of the closely related Drosophila quinaria, Drosophila calloptera, Drosophila guarani and Drosophila tripunctata species groups. Furthermore, these microsatellites could not be detected in the genome of Drosophila melanogaster, despite the conservation of microsatellite flanking regions at some loci. These data indicate that Drosophila microsatellite loci are quite short lived over evolutionary timescales relative to many other taxa.

In this study, we compared the average coancestry and inbreeding levels for two genetic conservation schemes in which frozen semen from a gene bank is used to reduce the inbreeding in a live population. For a simple scheme in which only semen of generation-0 (G0) sires is used, the level of inbreeding asymptotes to 1/(2N), where N is the number of newborn sires in the base generation and rate of inbreeding goes to zero. However, when only sires of G0 are selected, all genes will eventually descend from the founder sires and all genes from the founder dams are lost. We propose an alternative scheme in which N sires from generation 1 (G1), as well as the N sires from G0, have semen conserved, and the semen of G0 and G1 sires is used for dams of odd and even generation numbers, respectively. With this scheme, the level of inbreeding asymptotes to 1/(3N) and the genes of founder dams are also conserved, because 50% of the genes of sires of G1 are derived from the founder dams. A computer simulation study shows that this is the optimum design to minimize inbreeding, even if semen from later generations is available.

We investigate the joint effects of gene flow and selfing on the level of inbreeding depression, heterosis and genetic load in a subdivided population at equilibrium. Low gene flow reduces inbreeding depression and substantially increases heterosis. However, in highly self-fertilizing populations, inbreeding depression is independent of the amount of gene flow. When migration occurs via pollen, consanguinity of the reproductive system could have a negative influence on subpopulation persistence, in contrast to the case of isolated populations. However, with only seed migration, genetic load and heterosis depend mildly on the mating system. From an evolutionary point of view, we reach two main conclusions: first, outcrossing is selected for if gene flow is low; second, intermediate levels of gene flow could promote mixed mating systems, especially when migration occurs through pollen.

Gynodioecy, a genetic dimorphism of females and hermaphrodites, is pertinent to an understanding of the evolution of plant gender, mating and genetic variability. Classical models of nuclear gynodioecy attribute the maintenance of the dimorphism to frequency-dependent selection in which the female phenotype has a fitness advantage at low frequency owing to a doubled ovule fertility. Here, I analyse explicit genetic models of nuclear gynodioecy that expand on previous work by allowing partial male sterility in combination with either fixed or dynamically evolving mutational inbreeding depression. These models demonstrate that partial male sterility causes fitness underdominance at the mating locus, which can prevent the spread of females. However, if partial male sterility is compensated by a change in selfing rate, overdominance at the mating locus can cause the spread of females. Overdominance at introduction of the male sterility allele can be caused by high inbreeding depression and a lower selfing rate in the heterozygote, by purging of mutations by a higher selfing rate in the heterozygote, and by low inbreeding depression and a higher selfing rate in the heterozygote. These processes might be of general importance in the maintenance of mating polymorphisms in plants.

An unusual chromosomal hybrid zone of the house mouse, Mus musculus domesticus, exists in Upper Valtellina, Northern Italy, consisting of four Robertsonian (Rb) races and the standard (all-acrocentric, or 2n = 40) race, all hybridizing freely within 10 km2. The hybrid zone in Valtellina provides an excellent opportunity to study the role of Rb fusions in reproductive isolation and speciation. This hybrid zone has already been well studied for the distribution of Rb fusions and the fertility of hybrids, but in order to understand the dynamics of the zone, a basic understanding of the origin and genetic similarity of the chromosomal races is necessary. This paper presents the results of three different methods of measuring genetic differentiation: multivariate analysis of morphological traits and analyses of allozyme variation and mitochondrial DNA sequences. The standard race is clearly distinguishable from the three Rb races by all three methods, but the Rb races are not distinguishable from one another. This provides strong evidence for our previous suggestions that the well-established Rb races in Valtellina are closely related, and that the standard race was introduced into the valley more recently from a distant source. The fact that the Rb races are indistinguishable is also consistent with our hypothesis that a within-village speciation event involving two of the races (Hauffe & Searle, 1992) was a recent occurrence. The low level of allozyme heterozygosity among the Rb races suggests that these populations are the products of at least one bottleneck. The present article substantially extends earlier studies and provides the first detailed morphological and molecular analysis of this complex hybrid zone.

We study a class of genetic models in which a quantitative trait determined by several additive loci is subject to temporally fluctuating selection. Selection on the trait is assumed to be stabilizing but with an optimum that varies periodically and might be perturbed stochastically. The population mates at random, is infinitely large and has discrete generations. We pursue a statistical and numerical approach, covering a wide range of ecological and genetic parameters, to determine the potential of fluctuating environments to maintain quantitative genetic variation. Whereas, in contrast to some recent claims, this potential seems to be rather limited in the absence of recurrent mutation, fluctuating environments might, in combination with it, often generate high levels of additive genetic variation. We investigate how the genetic variation maintained depends on the ecological parameters and on the underlying genetics.

The aim of this paper is to investigate the effect of deleterious mutations in a hybrid zone maintained by selection against hybrids. In such zones, linkage disequilibria among hybrid depression loci, resulting from a balance between migration and selection, are crucial in maintaining the barrier because they allow each locus, in addition to its own selection coefficient, to cumulate indirect selective effects from other loci. Deleterious alleles produce heterosis and increase by this means the effective migration rate in structured populations. In a hybrid zone, they therefore contribute to decrease linkage disequilibria as well as the barrier to gene flow imposed by hybrid depression. However, deleterious mutations have no effect: (i) when selection against hybrids is weak, because linkage disequilibria are small even without heterosis in this case, or (ii) when selection against hybrids is so strong that it overwhelms heterosis. On the other hand, with moderate selection against hybrids, the decrease in the strength of the barrier due to heterosis may reach detectable levels, although it requires relatively small population sizes and/or migration rates. The effect is expected to be small and only within small genomes where loci are tightly linked can it become strong. Nevertheless, neglecting mutational load may to some extent obscure the estimations of selective parameters based either on artificial F1 crosses or on cline characteristics.

In the analysis of longitudinal data, before assuming a parametric model, an idea of the shape of the variance and correlation functions for both the genetic and environmental parts should be known. When a small number of observations is available for each subject at a fixed set of times, it is possible to estimate unstructured covariance matrices, but not when the number of observations over time is large and when individuals are not measured at all times. The non-parametric approach, based on the variogram, presented by Diggle & Verbyla (1998), is specially adapted for exploratory analysis of such data. This paper presents a generalization of their approach to genetic analyses. The methodology is applied to daily records for milk production in dairy cattle and data on age-specific fertility in Drosophila.

Two molecular maps of Triticum monococcum L were produced and integrated. The integrated map includes a total of 477 markers, 32 RFLPs, 438 AFLPs, one morphological (soft glume (Sog)) and six storage-protein markers, and covers 856 cM. The trait Sog with the recessive allele sog maps to linkage group 2S. Probably, this is the T. monococcum homologue of Tg and Tg2 in hexaploid and tetraploid wheats, respectively. Loci coding for seed storage proteins were allocated to chromosomes 1L (HMW GLU1,2 and Glu1), 1S (LMW GLU6,7, LMW GLU1-4, ωGLI1-4, γGLI5 and Gli-1) and 6L (α/βGLI7-14). Parameters related to bread-making quality (SDS sedimentation volume, specific sedimentation volume (SSV) and total protein content) were studied in one of the two populations. A QTL that is consistently present across environments was detected for SDS sedimentation volume and for SSV. The position of the QTL on chromosome 1S was in close agreement with the map positions of storage-protein loci. A second QTL was mapped on chromosome 5. For protein content, two significant QTLs were mapped to linkage groups 1 and 5.

Naturally occurring genetic variation was quantified for survival time of adult Drosophila melanogaster exposed to chronic ingestion of the drugs nicotine, caffeine, dopamine, tyramine and octopamine. Responses to nicotine, tyramine and octopamine were genetically correlated in both sexes, whereas caffeine response correlated with starvation resistance. However, there is also genetic variation that is specific for each of the drugs. Females tended to be more resistant than males to nicotine and caffeine but sex-by-genotype interactions were also seen for these drugs and for the response to dopamine. An unusual and complex genetic architecture was observed in crosses between lines with different responses to caffeine ingestion. Additive and dominance components were clearly seen from the analysis of F1 individuals, but increased female resistance to caffeine in backcross generations and increased male sensitivity in F2 generations confused the interpretation of possible epistatic contributions.

‘Evolution Canyon’ on Mount Carmel, Israel, displays highly contrasting physical and biotic environments on a micro-geographic scale, and is a natural laboratory for investigating genetic responses to variable and extreme environments across species. Samples of Drosophila melanogaster and D. simulans were collected from three sites each on the north- and south-facing slopes of the canyon along altitudinal transects, and one site on the valley floor. Numbers of abdominal and sternopleural sensory bristles were recorded for each of these subpopulations in three thermal environments. In D. simulans, sternopleural bristle number exhibited micro-geographic differentiation between the north- and south-facing slopes, while abdominal bristle number was stable across subpopulations. In D. melanogaster, the magnitudes of the difference in mean sternopleural bristle number between the north- and south-facing slopes and of mean abdominal bristle number along the altitudinal gradients were both conditional on rearing temperature. Thus, the pattern of genetic variation between sites was consistent with underlying heterogeneity of genetic mechanisms for response to the same environmental gradients between traits and sibling species. In contrast, the genetic architecture of bristle number at the level of variation within populations was very similar between species for the same bristle trait, although the two traits differed in the relative contribution of genotype by temperature and genotype by sex interaction.

Results from a QTL experiment on growth and carcass traits in an experimental F2 cross between Iberian and Landrace pigs are reported. Phenotypic data for growth, length of carcass and muscle mass, fat deposition and carcass composition traits from 321 individuals corresponding to 58 families were recorded. Animals were genotyped for 92 markers covering the 18 porcine autosomes (SSC). The results from the genomic scan show genomewide significant QTL in SSC2 (longissimus muscle area and backfat thickness), SSC4 (length of carcass, backfat thickness, loin, shoulder and belly bacon weights) and SSC6 (longissimus muscle area, backfat thickness, loin, shoulder and belly bacon weights). Suggestive QTL were also found on SSC1, SSC5, SSC7, SSC8, SSC9, SSC13, SCC14, SSC16 and SSC17. A bidimensional genomic scan every 10 cM was performed to detect interaction between QTL. The joint action of two suggestive QTL in SSC2 and SSC17 led to a genome-wide significant effect in live weight. The results of the bidimensional genomic scan showed that the genetic architecture was mainly additive or the experimental set-up did not have enough power to detect epistatic interactions.