The level and distribution of genetic variability within and among Metrosideros polymorpha populations along altitudinal gradients on the island of Maui, Hawaii were examined to assess the extent of genetic differentiation. Sixteen loci encoding 11 enzymes were scored in 17 populations along the NE wet slope of Mt. Haleakala and Kipahulu Valley in East Maui and six populations along the Puu Kukui trail in West Maui. On average, 50% of the loci were polymorphic within populations with an overall mean of 2·15 alleles per locus. The observed heterozygosities for different populations were moderate (0·108–0·220) and conformed to panmixia except for one of the mid-elevation populations. The distribution of allozyme variation indicates that very little differentiation has occurred along altitudinal gradients. Approximately 90% of the total variation resides within populations in East Maui while 95% was found within West Maui populations. The mean populational pair-wise genetic identities (Nei's I) ranged from 0·909 to 0·998. The UPGMA cluster analysis on genetic identity matrices and PCA on allele frequencies revealed marginal altitudinal differentiation. Twenty one alleles out of a total 63 showed statistically significant correlations with environmental variables.

I factors are transposable elements of Drosophila melanogaster similar to mammalian LINEs, that transpose by reverse transcription of an RNA intermediate and are responsible for the I–R system of hybrid dysgenesis. There are two categories of strains in this species: inducer, that contain about 15 I elements at the various sites on chromosomal arms, and reactive, that lack active I factors. I elements occur in various Drosophila species. Potentially functional I factors from Drosophila teissieri can transpose when introduced by P-element-mediated transformation in a reactive strain of Drosophila melanogaster. We have studied the properties of Drosophila melanogaster strains into which such an I factor from Drosophila teissieri, named Itei, was introduced. Typical hybrid dysgenesis is produced when males carrying Itei are crossed with reactive females. However, more than one copy of the element seems necessary to produce dysgenic traits, whereas only one I factor of Drosophila melanogaster seems to be sufficient. The copy number of Itei in transformed lines maintained by endogamous crosses increases rapidly and stabilizes at values similar to those observed in inducer strains. As Drosophila teissieri contains much fewer copies than the Drosophila melanogaster strains, this suggests that the copy number of I elements is not simply regulated by sequences present in the element itself.

The ftsZ gene of Escherichia coli, which codes for an essential cell division protein, is subjected to multiple regulation, as shown in part with studies using an ftsZ::lacZ operon fusion located on phage λJFLIOO. Using this same fusion, we sought to isolate regulatory mutants overexpressing ftsZ by selecting mutants able to grow on lactose. One Lac+ mutant was obtained which overexpressed the ftsZ::lacZ fusion 70-fold. The mutation responsible for the overexpression lies in a new gene, cot, located near 56 min on the E. coli genetic map. The cot mutation probably affects the transcription of a chromosomal open reading frame, 0RF1, lying downstream of the bioA gene and adjacent to the ftzZ::lacZ fusion of the λJFL100 prophage integrated at attλ. Using an ftsZ84(Ts) strain, in which there was a double selection for overexpression of both ftsZ::lacZ and ftsZ+, no Lac+Tr mutants were obtained from 3·6 × 1010 bacteria; the introduction of a mutL allele, increasing spontaneous base substitution mutation rates 75-fold, did not permit us to isolate such a mutant. We conclude that Lac+ftsZ-constitutive mutations cannot be obtained in λJFL100 lysogens by a single base substitution.

An aberrant chromosome 1 carrying an inverted fragment with two amplified DNA regions was isolated from wild populations of Mus musculus. Meiotic drive favouring the aberrant chromosome was demonstrated for heterozygous females. Its cause was preferential passage of aberrant chromosome 1 to the oocyte. Genetic analysis allowed us to identify a two-component system conditioning deviation from equal segregation of the homologues. The system consists of a postulated distorter and responder. The distorter is located on chromosome 1 distally to the responder, between the ln and Pep-3 genes, and it acts on the responder when in trans position. Polymorphism of the distorters was manifested as variation in their effect on meiotic drive level in the laboratory strain and mice from wild populations.

We have described a new unstable mutant of the vestigial locus isolated from a natural population. From this mutant, vestigialalmost (vgal), wild-type (vgal+), and extreme (vgext), alleles arose spontaneously. The molecular analysis of vgal shows that the mutation is due to a 1874 bp hobo element inserted in a vestigial intron. Two distinct kinds of events lead a wild-type phenotype. Three independent vgal+ alleles result from an excision of the hobo element and two other vgal+ alleles have further deletions of hobo sequence. The sequence of one of them shows a 1516 bp hobo insertion at the same place and in the same orientation as the 1874 bp insertion. In the vgext alleles, we found a 5′ or 3′ variably sized deletion of vg sequences. One of them, which has been cloned and sequenced, has a deletion finishing exactly at the left terminal repeat′ hobo element. The genetic implications of these different genetic structures are discussed.

Data are presented concerning the gene arrangements in the second and third chromosomes of Drosophila robusta in eight altitudinal transects. A consistent change is the increase in the arrangement 2L-3, particularly in the linkage combination 2L-3.2R, with increasing altitude. The reciprocal decrease with increasing altitude affects several different 2-left arrangements, most consistently 2L-1. The arrangements of 2-right show no significant variation with altitude, and those of 3-right do so only in a few samples of the two northern transects studied, none in any of the southern ones. These results confirm previous evidence for the significant role of the arrangements of the left arm of the second chromosome in the adaptations of this species to altitude and suggest further that interactions of linked arrangements are involved in these adaptations. The data also indicate that the factors responsible for the altitudinal adaptations of this species are in many cases not the same ones that are responsible for variations in its gene arrangements with latitude.

X chromosomes derived from crosses of inbred P and M Drosophila melanogaster strains that had extreme effects on abdominal and/or sternopleural bristle number in males, were further analyzed to determine their effects in females and to map the loci at which the mutations occurred. Seven lines that had on average 3.9 fewer sternopleural bristles than wildtype in males had average homozygous sternopleural bristle effects of −2·2. The bristle effects were partially recessive, with an average degree of dominance of −0·60. Physical mapping of the sternopleural bristle effects of these lines placed them all at approximately 24·7 cM. These mutations are apparently allelic on the basis of a complementation test, and deficiency mapping indicates they occur within chromosomal bands 8A4; 8C6. In situ hybridization analysis of the sites of P element insertions of these lines suggests that mutations probably resulted from excision of P elements at 8C on the original inbred P strain chromosome. Two additional lines, NDC(19) and DP(146), had reduced numbers of sternopleural and abdominal bristles. NDC(19) males had 9·7 fewer abdominal and 8·6 fewer sternopleural bristles than wildtype. The corresponding homozygous abdominal and sternopleural bristle number effects were −5·8 and −3·8, respectively; with the abdominal bristle effect completely recessive and the sternopleural bristle effect nearly additive. DP(146) males had 6·2 fewer abdominal and 4·1 fewer sternopleural bristles than wildtype, with homozygous abdominal bristle effects of −4·3 and sternopleural bristle effects of −2·0. Abdominal bristle effects of this line were partially recessive whereas the sternopleural bristle effects were additive. Physical mapping showed effects on both bristle traits segregated jointly in these two lines, with the NDC(19) mutation closely linked to y and the DP(146) mutation 0·17 cM from it. Complementation tests and deficiency mapping also indicate the mutations in lines NDC(19) and DP(146) are at closely linked but separate loci within chromosomal bands 1B2; 1B4–6 and 1B4–6; 1B10 respectively, with some epistatic effects. In situ hybridization analysis of sites of P element insertion suggest that the NDC(19) mutation, which may be a scute allele, was probably caused by a P element insertion in the IB region; the DP(146) mutation is also associated with an insertion at IB.

Simple, inexpensive techniques were used to analyse the mtDNA of nine chromosomally distinct populations of Petrogale. Eight of these populations occur in sequence along the Great Dividing Range of eastern Australia; six have been described as species. Diagnostic mtDNA morphs were found throughout the latitudinal ranges of four of the described species. A fifth morph spanned the ranges of two described species and three additional taxa which have been designated chromosome races. These five mtDNA morphs, and others with local distributions, were used to assess interactions between the taxa. Limited introgression was indicated across the chromosomal boundaries of P. penicillata/P. herberti and P. inornata/P. assimilis; atypical mtDNA morphs were found within the P. herberti and P. inornata chromosomal distributions. No introgression was detected between P. herberti and P. inornata, whose distributions are separated by the Fitzroy River. Nor was there evidence of recent contact between P. assimilis, P. herberti and P. purpureicollis, despite the late occupancy of parts of the intervening area by unidentified Petrogale. These data, considered in the light of information obtained from previous studies on chromosomes, allozymes and parasites, have contributed to the decision to consider all the eastern representatives of the lateralis-penicillata group of Petrogale as being specifically distinct from each other.

An aberrant chromosome 1 with two large homogeneously staining insertions was isolated from wild populations of Mus musculus musculus. The specific features of the aberrant chromosome have been described elsewhere (Agulnik et al. 1990). These include its preferential entry into the oocyte of heterozygous females, increased mortality of homozygotes and decreased fertility of homozygous females. Here we present data indicating that chromatid segregation in heterozygous females depends upon which sperm enters the oocyte before the second meiotic division: meioticdrive is powerful when it is sperm bearing normal chromosome 1, and segregation normalizesduring Mil when it is sperm bearing chromosome 1 with the extra segment. Experimental data are adduced and explanations offered for the observed phenomenon.

An understanding of the physiological and genetic changes which determine the response to selection is critical for both evolutionary theory and to assess the application of new molecular techniques to commercial animal breeding. We investigated an aspect of physiology, growth hormone (GH) metabolism, which might a priori have been expected to play a large part in the response of mouse lines selected for high or low body weight. Disruption of endogenous GH or addition of exogenous GH had similar proportionate effects on body weight in both lines of mice (although differences in body composition arose) suggesting that neither the production of GH nor receptor sensitivity to GH had been altered as a result of selection. This supports a ‘pleiotropic model’ of the response to selection: that many genes with diverse metabolic roles all contribute to the divergent phenotype. This result has significant commercial implications as it suggests that artificial selection, transgenic technology and environmental manipulation may be synergistic rather than antagonistic strategies.

We have carried out an investigation of the effects of various parameters on the accumulation of deleterious mutant alleles in finite diploid populations. Two different processes contribute to mutation accumulation. In random-mating populations of very small size and with tight linkage, fixation of mutant alleles occurs at a high rate, but decreases with extremely tight linkage. With very restricted recombination, the numbers of low-frequency mutant alleles per genome in randommating populations increase over time independently of fixation (Muller's ratchet). Increased population size affects the ratchet less than the fixation process, and the decline in population fitness is dominated by the ratchet in populations of size greater than about 100, especially with high mutation rates. The effects of differences in the selection parameters (strength of selection, dominance coefficient), of multiplicative versus synergistic selection, and of different amounts of inbreeding, are complex, but can be interpreted in terms of opposing effects of selection on individual loci and associations between loci. Stronger selection slows the accumulation of mutations, though a faster decline in mean fitness sometimes results. Increasing dominance tends to have a similar effect to greater strength of selection. High inbreeding slows the ratchet, because the increased homozygous expression of mutant alleles in inbred populations has effects similar to stronger selection, and because with inbreeding there is a higher initial frequency of the least loaded class. Fixation of deleterious mutations is accelerated in highly inbred populations. Even with inbreeding, sexual populations larger than 100 will probably rarely experience mutation accumulation to the point that their survival is endangered because neither fixation nor the ratchet has effects of the magnitude seen in asexual populations. The effects of breeding system and rate of recombination on the rate of molecular evolution by the fixation of slightly deleterious alleles are discussed.

We have determined 1990 bp mitochondrial DNA sequence which extends from 3′ end of the cytochrome oxidase subunit I (COI) gene to 5′ end of the COIII gene from two sibling species of Drosophila, D. simulans and D. mauritiana. Analyses of the sequences and part of the NADH dehydrogenase subunit 2 gene and the COI gene together with those from D. melanogaster and D. yakuba revealed that amino-acid substitution rate of the ATPase 6 gene seems to be higher in some strains of D. melanogaster than in the other species. High level of amino-acid polymorphism in this gene was observed in D. melanogaster. Synonymous substitution rate is relatively constant in all the genes examined, suggesting that mutation rate is not higher in the ATPase 6 gene of D. melanogaster. The amino-acid substitutions found specifically in D. melanogaster are at the sites which are not conserved among mammals, yeast and E. coli. These sites of the ATPase 6 gene might lose the selective constraint in D. melanogaster, and the amino-acid substitutions can be explained by neutral mutations and random genetic drift.

Models of the evolutionary advantages of sex and genetic recombination due to directional selection on a quantitative trait are analysed. The models assume that the trait is controlled by many additive genes. A nor-optimal selection function is used, in which the optimum either moves steadily in one direction, follows an autocorrelated linear Markov process or a random walk, or varies cyclically. The consequences for population mean fitness of a reduction in genetic variance, due to a shift from sexual to asexual reproduction are examined. It is shown that a large reduction in mean fitness can result from such a shift in the case of a steadily moving optimum, under light conditions. The conditions are much more stringent with a cyclical or randomly varying environment, especially if the autocorrelation for a random environment is small. The conditions for spread of a rare modifier affecting the rate of genetic recombination are also examined, and the strength of selection on such a modifier determined. Again, the case of a steadily moving optimum is most favourable for the evolution of increased recombination. The selection pressure on a recombination modifier when a trait is subject to strong truncation selection is calculated, and shown to be large enough to account for observed increases in recombination associated with artificial selection. Theoretical and empirical evidence relevant to evaluating the importance of this model for the evolution of sex and recombination is discussed.

Wright proposed that there is a ‘shifting balance’ between selection within demes, random drift, and selection between demes at different ‘adaptive peaks’. We investigate the establishment and spread of new adaptive peaks, considering a chromosome rearrangement, and a polygenic character under disruptive selection. When the number of migrants (Nm) is small, demes fluctuate independently, with a bias towards the fitter peak. When Nm is large, the whole population can move to one of two stable equilibria, and so can be trapped near the lower peak. These two regimes are separated by a sharp transition at a critical Nm of order 1. Just below this critical point, adaptation is most efficient, since the shifting balance greatly increases the proportion of demes that reach the global optimum. This is so even if one peak is only slightly fitter than the other (ΔW≈1/N), and for both strong and weak selection (Ns (Ns ≪ 1 or Ns ≫ 1). Provided that Nm varies sufficiently gradually from place to place, the fitter peak can be established in regions where Nm≈1, and can then spread through the rest of the range. Our analysis confirms Wright's argument that if selection, migration and drift are of the same order, the ‘shifting balance’ leads to efficient evolution towards the global optimum.

Divergent selection for abdominal bristle number was carried out for 47 generations, starting from a completely homozygous population of Drosophila melanogaster. All lines were selected with the same proportion (20%) but at two different numbers of selected parents of each sex (5 or 25). A significant response to selection was obtained in 25 lines (out of 40). In most cases, it could be wholly attributed to a single mutation of relatively large effect (> 0·3 phenotypic standard deviations). A total number of 30 mutations were detected. In agreement with theory, larger responses in each direction were achieved by those lines selected at greater effective population sizes. A large fraction of mutations were lethals (10/30). Thus, the observed divergence between lines of the same effective size selected in opposite directions was smaller than expected under neutrality. The ratio of new mutational variance to environmental variance was estimated to be(0·52±0·09)×10−3.

Asexual populations experiencing random genetic drift can accumulate an increasing number of deleterious mutations, a process called Muller's ratchet. We present here diffusion approximations for the rate at which Muller's ratchet advances in asexual haploid populations. The most important parameter of this process is n0 = N e−U/s, where N is population size, U the genomic mutation rate and s the selection coefficient. In a very large population, n0 is the equilibrium size of the mutation-free class. We examined the case n0 > 1 and developed one approximation for intermediate values of N and s and one for large values of N and s. For intermediate values, the expected time at which the ratchet advances increases linearly with n0. For large values, the time increases in a more or less exponential fashion with n0. In addition to n0, s is also an important determinant of the speed of the ratchet. If N and s are intermediate and n0 is fixed, we find that increasing s accelerates the ratchet. In contrast, for a given n0, but large N and s, increasing s slows the ratchet. Except when s is small, results based on our approximations fit well those from computer simulations.

Starting from a completely homozygous population of Drosophila melanogaster, lines have been derived and subjected to 47 generations of divergent selection for abdominal bristle number (20 lines selected in each direction) or to 60–67 generations of inbreeding (100 B lines maintained by a single brother-sister mating, 100 C lines maintained by two double first cousin ma tings). In the selected lines, 25 were identified carrying at least 30 mutations affecting bristle number. A large fraction of these mutations (42 %) were lethals. Non-lethal mutations had smaller effects on the trait, were predominantly additive and had no detectable pleiotropic effects on fitness. In the inbred lines, 21 mutations affecting bristles were individually analysed. Deleterious mutations had the largest effects on the trait (irrespective of sign) and showed recessive gene action (complete or incomplete). The rest were predominantly additive and had smaller effects. Thus, both procedures identify a quasi-neutral class of additive mutations which should be close to that responsible for standing variation in natural populations. Moreover, the results indicate a leptokurtic distribution of mutant effects, consistent with a model of natural selection acting on bristles through pleiotropic effects of pertinent loci on fitness. Consequently, neutral additive alleles of considerable effect can be found segregating at intermediate frequencies in natural populations.

We investigate the establishment and spread of new adaptive peaks within Wright's ‘shifting balance’. The third phase of the ‘shifting balance’ involves a kind of group selection, since demes in which a superior peak has been established contain more individuals, and so send out more migrants. We assume that population size, N, increases with mean fitness, , according to the exponential relation, . Here, k is a measure of the weakness of density-dependent regulation, and equals the inverse of the regression of log (fitness) on log(N). In the island model, we find that just as with soft selection (k = 0), two distinct types of behaviour exist: group selection makes no qualitative difference. With low numbers of migrants, demes fluctuate almost independently, and only one equilibrium exists. With large numbers of migrants, all the demes evolve towards the same adaptive peak, and so the whole population can move towards one or other of the peaks. Group selection can be understood in terms of an effective mean fitness function. Its main consequence is to increase the effect of selection relative to drift (Ns), and so increase the bias towards the fitter peak. However, this increased bias depends on the ratio between k and the deme size (k/N), and so is very small when density-dependence is reasonably strong.