Mutation tlx was induced in pea by gamma-irradiation in the homeotic gene Tl, responsible for transformation of the upper leaflets into tendrils. Heterozygotes tlx/Tl+ possess ‘flat tendrils’ having narrow rudimentary leaf blades. By 15 generations of selfing the line Delta was established, in which closely linked loci Tl and His1 were maintained heterozygous, His1 encoding the most abundant histone H1 subtype. The heterozygous chromosome region was flanked by several recessive markers. The genotype of line Delta with respect to loci His1 and Tl was: tlxHis12/Tl+His11. There were derived two sublines, Delta-s and Delta-f, homozygous for each of the His1 alleles but heterozygous for the Tl and flanking markers. The three lines were compared for a number of quantitative traits, including parameters of flat tendrils reflecting the expression of the gene Tl in heterozygote, and for recombination rate within the heterozygous segment. The line Delta-s exceeded Delta-f in terms of the level of the first inflorescence, length of the internode 8–9, number of pods on the main stem and mean seed mass, but was inferior regarding the mean number of seeds per pod. The flat tendrils were wider in the Delta-s as compared with the Delta-f line ; the difference was highly significant and exceeded 15% at node 17. Recombination rate between the flanking markers also showed significant differences, being highest in the Delta-f and lowest in the Delta line. We do not exclude the possibility that the observed differences in the quantitative traits are caused by the substitution of alleles of the histone H1 gene. The effects of such substitution appeared to be especially strong for expression of the homeotic gene Tl.

Drosophila melanogaster is polymorphic for the major cuticular hydrocarbon of females. In most populations this hydrocarbon is 7,11-heptacosadiene, but females from Africa and the Caribbean usually possess low levels of 7,11-heptacosadiene and high quantities of its position isomer 5,9-heptacosadiene. Genetic analysis shows that the difference between these two morphs is due to variation at a single segregating factor located on the right arm of chromosome 3 near map position 51·5 and cytological position 87C–D. This is precisely the position of a desaturase gene previously sequenced using primers derived from yeast and mouse, and localized by in situ hybridization to the polytene chromosomes of D. melanogaster. Alleles of this desaturase gene may therefore be responsible for producing the two hydrocarbon morphs. Mating tests following the transfer of these isomers between females of the two morphs show that, in contrast to previous studies, the hydrocarbon profiles have no detectable effect on mating behaviour or sexual isolation.

A glutathione reductase (GR) mutant with approximately 50% residual enzyme activity in blood compared with wild-type was detected amongst offspring of isopropyl methanesulphonate-treated male mice. Homozygous mutants with only 2% residual enzyme activity were recovered in progeny of inter se matings of heterozygotes. Results of linkage studies indicate a mutation at the Gr1 structural locus on chromosome 8. The loss of GR activity was evident both in blood and in other tissue extracts. Erythrocyte and organo-somatic indices did not show differences between wild-types and homozygous mutants, indicating no association between the GR deficiency and haemolytic anaemia in this potential animal model.

The hAT family is a group of transposable elements of the terminal inverted repeat class, which includes Ac of maize, hobo of Drosophila and Tam3 of Antirrhinum (snapdragon). All the members of this family so far examined are known to comprise complete and defective copies, with a good correspondence to autonomous and non-autonomous elements, respectively. Internal deletion is the most common cause of defective copies. Tol2, a transposable element of the medaka fish Oryzias latipes, is a member of the hAT family. We examined, mainly by the genomic Southern blot analysis, variation in the structure of copies of this element, and revealed that there are few or no internally deleted copies. This situation is unusual in a member of the hAT family. Possible causes of this anomaly are discussed.

Clines of P-induced hybrid dysgenesis provide a means for monitoring the evolution of transposition repression over space and time. We have studied the molecular and phenotypic profiles of flies taken from a 2900 km cline along the eastern coast of Australia, which had previously been characterized over 10 years ago as having P populations in the north, Q populations at central sites and M′ populations in the south. We have found that Q and M′ populations of flies have increased their range within the cline at the expense of P lines. Q populations were found to be in the north of the cline and M′ populations in the south. Some of the northern Q lines transmit repression through both sexes and type I deletion elements have been isolated from them. We suggest that these elements are responsible for Q type repression. The results support our model that populations made up of Q individuals with strong biparentally transmitted repression form an evolutionarily stable strategy for the repression of hybrid dysgenesis in Drosophila melanogaster.

Allozyme markers were used to estimate mating system parameters in nine fragmented populations of the grassland daisy Rutidosis leptorrhynchoides that differed in size and spatial isolation. Multilocus estimates of outcrossing rate did not differ significantly among populations, all indicating a high level of outcrossing (tm=0·84–1·0). Small populations showed greater divergence than large populations between the allele frequencies in the population and those in the pollen pool, indicating paternal bottlenecks. Isolated populations of fewer than 200 individuals also exhibited higher correlations of outcrossed paternity (rp) than larger populations, indicating the production of more full-sibs within families. The combination of paternal bottlenecks and correlated paternity increases the genetic identity of progeny across families and predisposes populations to biparental inbreeding in subsequent generations. As over half the remaining populations of R. leptorrhynchoides contain fewer than 200 plants, such second-order inbreeding may threaten the viability of the species if it is associated with significant inbreeding depression.

Theories on the evolution of recombination in regard to its ability to increase mean fitness require a consistent source of negative linkage disequilibrium among loci affecting fitness to show an advantage to recombination. Here we present evidence that, at least theoretically, genetic variation for recombination can spread in very large populations under a strictly multiplicative-fitness, deleterious-allele model. The model uses only Mendelian genetics in a multi-locus context to show that a dominant gene for recombination can spread when rare and resist invasion when common. In non-equilibrium populations driven by Muller's ratchet, the gene increases its probability of fixation by increasing the probability of being associated with the best individuals. This occurs at an optimal level of recombination. Its action results in both an immediate and a long-term advantage to recombination amongst the proto-meiotic organisms modelled. The genetic mechanism lends itself naturally to a model for the evolution of meiosis, where modern-day gametes are seen as derivative of ancient unicellular organisms.

The effect of selection on the amounts of nucleotide variation within and between allelic classes was studied when two allelic classes exist in a population. Two selection models – the genic selection model and the overdominant selection model – were used. The average numbers of pairwise nucleotide differences within two allelic classes were investigated by computer simulation and the average number of pairwise differences between two allelic classes was obtained analytically. It was indicated that selection largely affects the amounts of variation within and between allelic classes. However, the sum of the average numbers of pairwise differences within two allelic classes is nearly constant and always close to θ(θ=4Nμ), even when selection is acting, where N is the effective population size and μ is the mutation rate per sequence per generation. This result suggests that the sum of the average numbers of pairwise differences within two allelic classes can be used to estimate θ. It may be useful for a region where selection may be acting. As examples, several gene regions of Drosophila melanogaster and a region of Mus domesticus were analysed. The effect of recombination on the sum of the average numbers of pairwise differences within two allelic classes was discussed.

Quantitative trait loci (QTL) have been identified for competence of the mosquito Aedes aegypti to transmit the avian malaria parasite Plasmodium gallinaceum and the human filarial parasite Brugia malayi. Efforts towards the map-based cloning of the associated genes are limited by the availability of genetic markers for fine-scale mapping of the QTL positions. Two F2 mosquito populations were subjected to bulked segregant analysis to identify random amplified polymorphic DNA (RAPD)-PCR fragments linked with the major QTL determining susceptibility to both parasites. Individual mosquitoes for the bulks were selected on the basis of their genotypes at restriction fragment length polymorphism (RFLP) loci tightly linked with the QTL. Pool-positive RAPD fragments were cloned and evaluated as RFLP markers. Of the 62 RAPD/RFLP fragments examined, 10 represented low-copy number sequences. Five of these clones were linked with the major QTL for P. gallinaceum susceptibility (pgs1), of which one clone mapped within the flanking markers that define the QTL interval. The remaining five clones were linked with the major QTL for B. malayi susceptibility (fsb1), and again one clone mapped within the flanking markers that define the QTL interval. In addition, nine RAPD/RFLP fragments were isolated that seem to be of non-mosquito origin.

In the medaka, Oryzias latipes, the mechanism of sex determination (XX/XY) can be revealed by genetic crosses using a body-colour gene, though it does not have cytologically recognizable sex chromosomes. The recombination restriction of sex chromosomes in heterogametic (XY) males has been demonstrated. To elucidate whether the recombination is prevented by the heterogamety of the sex chromosomes or by maleness, we examined the recombination frequencies among three loci located on the sex chromosomes (r, SL1 and SL2) in heterogametic males (XY), homogametic males (XX and YY), homogametic females (XX) and heterogametic females (XY). The recombination frequencies between r–SL1 and SL1–SL2 were as follows: 0, 0 (XY males); 0, 1·5 (XX males); 1·6% (YY males; 1·2%, 14·4% (XY females); 0·8%, 21·8% (XX females). These results indicate that the recombination restriction of the sex chromosomes in heterogametic males does not result from heterogametic sex chromosomes, but from maleness. Such sex-chromosome- specific recombination restriction in heterogametic sex may have triggered the differentiation of sex chromosomes in vertebrates.

The Otsuka Long-Evans Tokushima Fatty (OLETF) rat is an animal model for obese-type non-insulin-dependent diabetes mellitus (NIDDM) in humans. The OLETF rat exhibits sustained hyperglycaemia after partial pancreatectomy, while the normal control rat does not. This difference is thought to be genetically determined and to be caused by impairment of β-cell regrowth, a possible event involved in the pathogenesis of NIDDM. Our investigation was designed to identify quantitative trait loci (QTL) responsible for post-pancreatectomy hyperglycaemia by performing a genome-wide scan in an F2 intercross obtained by mating the OLETF and Fischer-344 (F344) rats. We have identified three possible QTL on rat chromosomes (Chrs) 3, 14 and 19 that account for a total of approximately 75% of the genetic variance in the F2. For the QTL on Chr 14, the OLETF allele corresponds with increased glucose levels, as expected. Surprisingly, for the QTL on Chr 19, the F344 allele corresponds with increased glucose levels. The Chr 3 QTL exhibits heterosis, heterozygotes showing significantly higher glucose levels than OLETF or F344 homozygotes. We also found evidence for interaction (epistasis) between the QTL on Chrs 14 and 19.

Previous work has shown that genetic diversity at a neutral locus is affected by background selection due to recurrent deleterious mutations as though the effective population size Ne is reduced by a factor that is calculable from genetic parameters such as mutation rates, selection coefficients, and the rates of recombination between sites subject to selection and the neutral locus. Given that silent changes at third coding positions are often subject to weak selection pressures, it is important to develop similar quantitative predictions of the effects of background selection on variation and evolution at weakly selected sites. A diffusion approximation is derived that describes the effects of the presence of a single locus subject to mutation and strongly deleterious selection on variation and evolution at a partially linked, weakly selected locus. The results are validated by computer simulations using the Ito pseudo-sampling method. We show that both nucleotide site diversity and rates of molecular evolution at a weakly selected locus are affected by background selection as though Ne is reduced in the same way as for a neutral locus. Heuristic arguments are presented as to why the change in Ne for the neutral case also applies with weak selection. As in the case of a neutral locus, the number of segregating sites in the population is poorly predicted from the change in Ne. The potential significance of the results in relation to the effects of recombinational environment on molecular variation and evolution is discussed.

A pair of mutant mice with a first sparse coat appeared spontaneously in the production stock of BALB/c mice with a normal coat. After being sib-mated, they produced three phenotypes in their progeny: mice with normal hair, mice with a first sparse coat and then a fuzzy coat, and uncovered mice. Genetic studies revealed the mutants had inherited an autosomal monogene that was semi-dominant. By using 11 biochemical loci – Idh, Car2, Mup1, Pgm1, Hbb, Es1, Es10, Gdc, Ce2, Mod1 and Es3 – as genetic markers, two-point linkage tests were made. The results showed the gene was assigned to chromosome 11. The result of a three-point test with Es3 and D11Mit8 (microsatellite DNA) as markers showed that the mutation was linked to Es3 with the recombination fraction 7·89±2·19%, and linked to D11Mit8 with the recombination fraction 26·30±3·57%. The recombination fraction between Es3 and D11Mit8 was 32·90±3·81%. It is suggested that the mutation is a new genetic locus that affected the skin and hair structure of the mouse. The mutation was named uncovered, with the symbol Uncv. Further studies showed the mutation affected not only the histology of skin and hair but also the growth and reproductive performance of the mice. The molecular characterization of the Uncv locus needs to be further studied.

Characterizing deleterious genomic mutations is important. Most of the few current estimates come from the mutation–accumulation (M-A) approach, which has been extremely time- and labour-consuming. There is a resurgent interest in implementing this approach. However, its estimation properties under different experimental designs are poorly understood. By simulations we investigate these issues in detail. We found that many of the previous M-A experiments could have been more efficiently implemented with much less time and expense while still achieving the same estimation accuracy. If more than 100 lines are employed in M-A and if each line is replicated at least 10 times during each assay, an experiment of 10 M-A generations with two assays (at the beginning and at the end of M-A) may achieve at least the same estimation quality as a typical M-A experiment. The number of replicates per M-A line necessary for each assay largely depends on the magnitude of environmental variance. While 10 replicates are reasonable for assaying most fitness traits, many more are needed for viability, which has an exceptionally large environmental variance. The investigation is mainly carried out using Bateman–Mukai's method of moments for estimation. Estimation using Keightley's maximum likelihood is also investigated and discussed. These results should not only be useful for planning efficient M-A experiments, but also may help empiricists in deciding to adopt the M-A approach with manageable labour, time and resources.

The mouse lines were developed by long-term selection for fatness, after which the fat line (F) had about a 5-fold (23% vs 4%) higher fat percentage than the lean (L) line at 14 weeks; but the lines differed little in fat-free body weight. To assess the contribution of genetic changes in leptin hormone level to the selection response, plasma leptin levels were assayed in these lines in generation 60 and in an unselected control (C) from the same base population. With access to food prior to assay, the F, C and L lines had 16·5, 0·91 and 0·26 ng/ml leptin, respectively. In fasted animals these levels were much lower: 2·98, 0·171 and 0·0087 ng/ml, respectively. Thus the leptin levels differ greatly between the lines, with the fattest mice showing the highest level: almost 20 times higher than the control and 60–300 times higher than the L line. These correlated selection effects are an order of magnitude greater than the direct selection response, and believed to be much larger than seen for any hormonal or other trait. Correlations between leptin level and fat amount were high (over 0·86) in fed or fasted animals of the F line, indicative of leptin resistance.

Variation among males and females in reproductive success is a major determinant of effective population size. Most studies of male mating success in Drosophila, however, have been done under conditions very different from those in typical cultures. We determined the distribution of male mating success in five laboratory populations of D. melanogaster maintained on a 14 d, discrete generation cycle fairly representative of standard Drosophila cultures. Mating success was measured as the number of matings a male could achieve under conditions closely approximating a regular culture vial of these populations. Preliminary studies determined that most mating in these populations occurred within 14 h of the flies attaining sexual maturity. Consequently, individual virgin males were marked with white paint on their thorax, put into vials with varying numbers of unmarked virgin flies of both sexes, and monitored continuously for matings over a period of up to 14 h. At various times during the assay, virgin males and females were added to these vials in proportions simulating the pattern of eclosion in culture vials. The observed variation in the number of matings per male in the five populations was, by and large, consistent with a Poisson distribution, suggesting that male mating success in short-generation-time, discrete-generation laboratory cultures of D. melanogaster may fulfil a fundamental assumption of the Wright–Fisher model of genetic drift in finite populations.

The effect of population bottlenecks on the additive variance generated by two neutral independent epistatic loci has been studied theoretically. Three kinds of epistasis were considered: (1) additive×additive, (2) multiple dominant genotype favoured, and (3) Dobzhansky–Muller type. The additive variance in an infinitely large panmictic population (ancestral variance) was compared with its expected value at equilibrium, after t consecutive bottlenecks of equal size N (derived variance). Formulae were derived in terms of allele frequencies and effects at each locus and the corresponding epistatic effects. An increase in the additive variance after bottlenecks will occur only if its ancestral value is minimal or very small. This has been detected only for: (1) intermediate ancestral allele frequencies at both loci ; (2) extreme ancestral allele frequencies at one or both loci. The magnitude of the excess was inversely related to N and t. With dominance gene action, enhanced additive variance after bottlenecks implies a rise in the genotypic frequency of homozygous deleterious recessives, resulting in inbreeding depression. Considering multiple loci, simultaneous segregation of unfavourable alleles at intermediate frequencies, or of favourable recessives at low frequencies, cannot easily be conceived of unless there is strong genotype–environment interaction. With this possible exception, it is unlikely that the rate of evolution may be accelerated after population bottlenecks, in spite of occasional increments of the derived additive variance over its ancestral value.

An increasing amount of evidence indicates that different forms of environmental stress influence the expression of genetic variance in quantitative traits and, consequently, their evolvability. We investigated the causal components of phenotypic variance and natural selection on the body condition index (a trait often related to fitness in wild bird populations) of blue tit (Parus caeruleus) nestlings under contrasting environmental conditions. In three different study years, nestlings grown under a poor feeding regime attained lower body condition than their full-sibs grown under a good feeding regime. Genetic influences on condition were large and significant in both feeding regimes, and in all three study years. However, although estimates of additive genetic variance were consistently higher in the poor than in the good environment, heritability estimates for body condition index were very similar in both environments due to higher levels of environmental variance in the poor environment. Evidence for weak genotype×environment interactions was obtained, but these contributed little to variance in nestling condition. Directional natural selection on fledging condition of nestlings was detected, and there were no indications of year or environmental effects on the form and intensity of selection observed, in a sample of 3659 nestlings over four years. However, selection on fledging condition was very weak (standardized selection gradient, β=0·027±0·016 SE), suggesting that, in the current population, the large additive genetic component to fledging condition is not particularly surprising. The results of these analyses are contrasted with those obtained for other populations and species with similar life-histories.

Various spatial autocorrelation statistics have been widely used both in theoretical population genetics and to study the spatial distribution of diploid genotypes in many plant and animal populations. However, previous simulation studies have considered only diallelic loci. In this paper, we use a large number of space–time simulations to characterize for the first time the parametric and statistical values of Moran's I-statistics for converted individual genotypes as well as for join- count statistics. A wide range of levels of dispersal and numbers of alleles and allele frequencies are modelled and the results reveal the different general effects of each of these factors on these statistics. We also examine the range of appropriate sampling designs and sizes for which predicted values can be interpolated for specific sampling schemes for any given population genetic field survey. Numbers of alleles and allele frequencies each affect some statistics but not others. The results indicate generally low standard deviations. The results also develop precise and efficient methods of estimating gene dispersal, based on the various autocorrelation measures of standing spatial patterns of genetic variation within populations. The results also extend these methods to loci with multiple alleles, typical of those studied through modern molecular methods.

A simple mathematical model of genic directional selection is developed to study frequency changes of genetic marker alleles that are partially linked to a quantitative trait locus (QTL) under artificial selection. The effects of population size, number of generations of artificial selection, recombination between marker locus and QTL, and the strength of selection on the change in allele frequency are analysed by the diffusion equation approach and by stimulation. Using these results, we investigate the power of statistical tests for the detection of QTLs based on the observation of significant marker allele frequency changes in selection experiments. The probability of inferring the correct location of a QTL is also obtained.