This study is an attempt to trace the fate of hobo elements in the genomes of E strains of Drosophila melanogaster that have been transfected with pHFL1, a plasmid containing an autonomous hobo. Such long-term population studies (over 105 generations) could be very useful for better understanding the population and genomic dynamics of transposable elements and their pattern of insertions. Molecular analyses of hobo elements in the transfected lines were performed using Southern blots of XhoI-digested genomic DNAs. The complete element was observed in all six injected lines. In two lines we observed, at generation 100, two deleted elements, which did not correspond to Th1 and Th2. The results obtained by the in situ method show that the number of hybridization sites increases in each line and prove that the hobo element may be amplified in an RM genome. The hobo activity does not seem to be systematically correlated with the number of hobo elements. After generation 85, the evolution of the hobo element's insertion site number depends on the injected line. In all lines, the total number of insertions remains quite small, between 0 and 11. Hobo elements are located on each of the chromosomal arms. We describe ‘hotspots’ – insertion sites present in all lines and in all generations. On the 3R arm, a short inversion appeared once at generation 85.

A hybrid dysgenesis syndrome in Drosophila virilis is associated with the mobilization of at least four unrelated transposable elements designated Helena, Paris, Penelope and Ulysses. We carried out 42 crosses between eight strains differing in transposable element copy number in order to assess their contributions to hybrid dysgenesis. Linear regression and stepwise regression analysis was performed to estimate the correlation between the difference in euchromatic transposable element number between the parental flies of different strains involved in the crosses and the percentage, in the progeny of these crosses, of males with atrophic gonads. Male gonadal atrophy is a typical manifestation of the D. virilis hybrid dysgenesis syndrome. About half the variability in the level of male gonadal atrophy can be attributed to Penelope and Paris/Helena. Other factors also seem to play a significant role in hybrid dysgenesis in D. virilis, including maternally transmitted host factors and/or uncontrolled environmental variation. In the course of this work a novel transposable element named Telemac was found. Telemac is also mobilized in hybrid dysgenesis but does not appear to play a major causative role.

The house mouse, Mus musculus, harbours a variable cluster of long-range repeats in chromosome 1. As shown in previous studies, some high-copy clusters such as the MUT cluster are cytogenetically apparent as a homogeneously staining region (HSR) and are associated with a distortion of the Mendelian recovery ratio when transmitted by heterozygous females. The effect is caused by a decreased viability of +/+ embryos. It is compensated by maternal or paternal MUT. In this study, a deletion derivative of MUT, MUTdel, shows normal transmission ratios and no compensating capability. In this respect, MUTdel behaves like a wild-type cluster. Hence, both properties – transmission ratio distortion and compensating capability – map to the deleted region. The deletion comprises three-quarters of the MUT HSR and does not extend to the nearest markers adjacent to the HSR.

Three new dominant suppressor mutations of the C1 transcription regulator gene in maize – C1-IΔ1, C1-IΔ2 and C1-IΔ3 – are described that suppress anthocyanin colouration in kernels similar to the function of the C1-I standard inhibitor. The C1-IΔ mutations were induced by imprecise excision of an En/Spm transposon in the third exon of the C1 gene. These transposon footprints cause a frameshift in the C1 open reading frame that leads to truncated proteins due to an early stop codon 30 amino acids upstream of the wild-type C1 protein. Therefore, the C1-IΔ gene products lack the carboxy-terminal transcriptional activation domain of C1. The C1-I standard allele also lacks this domain and in addition differs in 17 amino acids from the wild-type C1 allele. The new C1-IΔ alleles provide evidence that deletion of the carboxy-terminal activation domain alone is sufficient to generate a dominant suppressive effect on the function of wild-type C1.

A fundamental assumption of models for the maintenance of genetic variation by environmental heterogeneity is that selection favours alternative alleles in different environments. It is not clear, however, whether such antagonistic pleiotropy is common. We mapped quantitative trait loci (QTLs) causing variation for reproductive performance in each of three environmental treatments among a set of 98 recombinant inbred (RI) lines derived from a cross between two D. melanogaster laboratory strains. The three treatments were standard medium at 25°C, ethanol-supplemented medium at 25°C, and standard medium at 18°C. The RI lines showed highly significant genotype–environment interaction for the fitness measure. Of six QTLs with significant effects on fitness in at least one of the environments, five had significantly different effects at the different temperatures. In each case, the QTL by temperature interaction arose because the QTL had stronger effects at one temperature than at the other. No evidence for QTLs with opposite fitness effects in different environments was found. These results, together with those of recent studies of crop plants, suggest that antagonistic pleiotropy is a relatively uncommon form of genotype–environment interaction for fitness, but additional studies of natural populations are needed to confirm this conclusion.

A simulation study was performed to investigate methods for mapping single-dose (simplex) and double-dose (duplex) markers, and for identification of homologous chromosomes in an autotetraploid species, and to see how the map accuracy depends on the population size. An initial population of 1000 individuals was simulated, with 30 simplex and 10 duplex markers, and recombination fractions and lod scores were calculated between all pairs of markers. These were used to test the feasibility of mapping the simplex and duplex markers simultaneously. Smaller populations, from 500 to 75 individuals, were then simulated, and the estimates of the pairwise recombination fractions and the derived maps were compared with the true map. It was found that the accuracy of the estimates depended strongly on the type of markers involved, with simplex–simplex coupling pairs being most reliable and simplex–simplex repulsion pairs and duplex–duplex pairs in any configuration but coupling being least reliable. Maps can be assembled using recombination fractions and lod scores from pairs of simplex–simplex markers (coupling and repulsion), duplex–simplex (coupling and repulsion) and duplex–duplex (coupling). The agreement between the map order and the true order was good, although the map distance was generally underestimated at small sample sizes.

The problem of genetic hitch-hiking in a geographically subdivided population is analysed under the assumption that migration rates among populations are relatively small compared with the selection coefficient for a newly arising advantageous allele. The approximate method used in the paper is valid when the number of emigrants per generation (Nm) is less than one. The approximate analysis shows that hitch-hiking can result in substantial differences among populations in the frequencies of neutral alleles closely linked to the advantageous allele. Thus, in cases for which genetic hitch-hiking is thought to be responsible for low levels of genetic variability in regions of the genome with restricted crossing over, it might be possible to find confirmatory evidence for that hypothesis by finding unusual patterns of geographic differentiation in the same regions of the genome.

The infinitesimal model is extended to cover linkage in finite populations. General equations to predict the dynamics of the genetic variation under the joint effects of mutation, selection and drift are derived. Under truncation and stabilizing selection, the quadratic equations for the asymptotic genetic variance (VG) are respectively

V2G(1+kS)+VG (Ve−2NeVm) −2NeVmVe=0

and

V2G(1+S)+VG (Ve+γ−2NeVm) −2NeVm(Ve+γ)=0,

where Ne is the effective population size, Vm is the mutational variance, Ve is the environmental variance, γ is the parameter that measures the spread of fitness around the optimum under stabilizing selection, k is equal to i(i−x) where i is the selection intensity and x is the cut-off point under truncation selection. The term S is a function of the number of chromosomes (v) and the average chromosome length (l):

formula here

These predictions are accurate when compared with results of simulations of small populations unless the number of genes is small. The infinitesimal model reduces to the continuum of alleles model if there is no recombination between homologous chromosomes.

The determination of empirical confidence intervals for the location of quantitative trait loci (QTLs) by interval mapping was investigated using simulation. Confidence intervals were created using a non-parametric (resampling method) and parametric (resimulation method) bootstrap for a backcross population derived from inbred lines. QTLs explaining 1%, 5% and 10% of the phenotypic variance were tested in populations of 200 or 500 individuals. Results from the two methods were compared at all locations along one half of the chromosome. The non-parametric bootstrap produced results close to expectation at all non-marker locations, but confidence intervals when the QTL was located at the marker were conservative. The parametric method performed poorly; results varied from conservative confidence intervals at the location of the marker, to anti-conservative intervals midway between markers. The results were shown to be influenced by a bias in the mapping procedure and by the accumulation of type 1 errors at the location of the markers. The parametric bootstrap is not a suitable method for constructing confidence intervals in QTL mapping. The confidence intervals from the non-parametric bootstrap are accurate and suitable for practical use.