Using silver staining and the whole mount electron microscopy technique of squashed chromosomes, we studied the substructural organization and behaviour of chromatid cores in mitotic chromosomes of spermatogonia of the grasshopper Oedaleus infernalis during mitosis. It was found that the formation of mitotic chromatid cores takes place during the transition from prophase to prometaphase. Each chromosome contains two compact chromatid cores which are surrounded by a halo of dispersed argyrophilic material emanating radially from the cores. In early metaphase the chromatid core usually appears as an extended, slender network running longitudinally through the entire length of the chromatid, while in late metaphase the core frequently has a spiral appearance. In addition, our results revealed the existence of interconnections between sister chromatid cores along their entire length, as a result of which sister chromatid cores appear as a single interconnected core network in mitotic metaphase chromosomes. At this stage the core occupies a lateral position in each chromatid. However, during the transition from metaphase to anaphase, the interconnections are gradually released to allow the individualization of sister chromatid cores and the segregation of chromosomes. The core comes to occupy a central position in each segregated chromatid. These findings demonstrate the presence of an intrinsic interconnected core network within metaphase chromosomes which could be involved in the maintenance and segregation of chromosomes during mitosis.

The mating system of a natural population of Bulinus globosus from the Chiweshe area, Zimbabwe, was studied with mother—offspring data using isozyme genetic markers. The study was done in response to work on the genetic structure of this population which suggested a limited extent of cross-fertilization. Of the 24 adults whose progenies were analysed, at least 15 showed evidence of outcrossing and 9 had results consistent with selfing. These results show that the two modes of reproduction are important under natural conditions and the mating system of this population is considered to be ‘partially-selfing’.

A 1·5 kilobasepair repeated DNA sequence is duplicated in direct orientation so as to flank the suppressor of forked gene in the euchromatin–heterochromatin transition region on the X chromosome of Drosophila melanogaster. These two copies are almost identical, but DNA blotting, analysis of cloned sequences and database searches show that elsewhere in the genome, homologous sequences are poorly conserved. They are often associated with other repeats, suggesting that they may belong to a scrambled and clustered middle repetitive DNA family. The sequences do not appear to be related to transposable elements and their location in different strains is conserved. In situ hybridization to metaphase chromosomes shows that homologous sequences are concentrated in the pericentric regions of the autosomes and the X chromosome. The sequences are not significantly under-represented in DNA from polytene tissue and must lie in the replicated regions of polytene chromosomes. The almost perfect conservation of the two repeats around suppressor of forked in D. melanogaster suggests they arose by duplication or gene conversion. Suppression of recombination in this chromosomal region presumably allows this unusual organization to be stably maintained. In the X-ray induced allele, suppressor of forked-L26, the sequence between the repeats, including the gene, and one copy of the repeat have been deleted.

The insertion site numbers of the transposable elements (TEs) copia, mdgl, 412 and gypsy were determined in various natural populations of Drosophila melanogaster and D. simulans by in situ hybridization. We showed that, while all elements except gypsy had many insertion sites scattered over the chromosomes in D. melanogaster, only the 412 element in D. simulans presented a high number of insertions, and this number was lower than in D. melanogaster. This low 412 site number per genome in D. simulans was associated with a lower proportion of insertions on the X chromosome in comparison with D. melanogaster, as determined in diploid genomes (0·090 for D. simulans against 0·137 for D. melanogaster) and in haploid genomes (0·102 against 0·146), each value being, moreover, lower than the value of 0·20 expected on the hypothesis of no selection against insertional mutations. These results suggest that selection is a major mechanism explaining 412 copy number regulation in Drosophila, and is stronger in D. simulans than in D. melanogaster.

In Drosophila melanogaster and closely related species, polymorphism has been shown to be reduced at loci located in regions of low recombination on the X chromosome and on the fourth chromosome, which does not normally recombine. Thispositive correlation between nucleotide polymorphism level and recombination rate is not predicted by standard neutral theory and therefore must result from natural selection and genetic hitchhiking along the chromosomes. We report here the near-complete absence of variation at concertina (cta), a locus located in the β-heterochromatic base ofchromosome 2L, a region of strongly reduced recombination. A 1.2 kilobase region containing coding regions and introns was sequenced from each of nine lines of D. melanogaster and nine lines of D. simulans representingworldwide collections. Variation is significantly reduced in cta in both species compared with other available loci on the same chromosome. Two analyses of background selection demonstrate that the reduction in variation at cta, considered in combination with other loci on chromosome 2L or alone, is consistent with the background selection model.

The alcohol dehydrogenase (Adh) gene of Drosophila melanogaster is well suited to be a gene expression reporter system. Adh produces a measurable phenotype at both the enzyme and mRNA levels. We recovered a spontaneous transposable element (TE) insertion mutation near the Adh gene. The insertion is a truncated retroposable element, jockey, inserted upstream of the adult Adh enhancer region. Comparisons between the Adhjockey allele and its direct wild-type ancestral allele were made in an isogenic background (i.e. identical cis and trans factors). Differences in Adhjockey expression compared with the wild-type can be attributed solely to the presence of the jockey element. This jockey insertion results in a decrease in adult mRNA transcript levels in the Adhjockey homozygous lines relative to the wild-type counterpart and accounts for a correlated decrease in alcohol dehydrogenase (ADH) enzyme activity. The larval ADH activity levels are not detectably different.

This study extends previous observations that chromosome loss in somaticcells of juveniles of the pacific oyster Crassostrea gigas is associated with reduced growth rate. All four studies designed to examine this association (two usingrandom population samples and two using full sibs) produced the same result. This consistent effect appears to be unrelated with the commonly, but not consistently, observed correlation between degree of allozyme heterozygosity and growth. We propose thatthe inverse relationship between aneuploidy and growth is due to the unmasking of deleterious recessive genes caused by ‘progressive haploidization’ of somatic cells. Because unmasking of deleterious recessive genes by random chromosome lossisunlikely in polyploid cells, this hypothesis may also provide an explanation for theobservation that artificially produced polyploid shellfish usually grow at faster rates than normal diploid ones.

Z-(ll)-pentacosene, Drosophila virilis sex pheromone, is predominant among the female cuticular hydrocarbons and can elicit male courtship behaviours. To evaluate the genetic basis of its production, interspecific crosses between D. novamexicana and genetically marked D. virilis were made and hydrocarbon profiles of their backcross progeny were analysed. The production of Z-(ll)-pentacosene was autosomally controlled and was recessive. Of the six D. virilis chromosomes only the second and the third chromosomes showed significant contributions to sex pheromone production, and acted additively. Analysis of recombinant females indicated that the locus on the second chromosome mapped to the proximity of position 2–218.

Sexual isolation between the sibling species D. simulans and D. mauritiana is due largely to the rejection of D. simulans males by D. mauritiana females. Genetic analysis shows that genes on the X and third chromosomes contribute to the differences between males causing sexual isolation, while the Y chromosome, second chromosome and cytoplasm have no effect. These chromosome effects differ from those observed in a previous analysis of sexual isolation in hybrid females, implying that different genes cause sexual isolation in the two sexes.

We investigated the genetic variability for phally polymorphism within and between natural populations of the hermaphrodite self-fertile freshwater snail Bulinus truncatus. Phally polymorphism is characterized by the co-occurrence in natural populations of regular hermaphrodite individuals (euphallic) and individuals deprived of the male copulatory organ (aphallic). The two morphs can both self-fertilize and outcross. However, aphallic individuals cannot outcross as males. We examined the variation of the aphally ratio in 22 natural populations from Niger over two successive years. During the second years, populations were sampled three times at 3 week intervals. The aphally ratio was highly variable among populations at a given sampling data and remained relatively stable over time. For 10 of these populations, one population from Corsica and two from Sardinia, we also estimated the between- and within- population variability, analysing the aphally ratio of 346 families under laboratory conditions. The aphally ratio varied significantly among populations and was highly correlated with the aphally ratio of the natural populations. Some within-population variability, associated with a high value of the broad sense heritability, was observed in four populations out of 13. In these populations, aphallic individuals produced significantly more aphallic offspring than euphallic individuals. Our results indicate a strong genetic basis for aphally, with large genetic differences among populations and some genetic variability for aphally within populations. We discuss the adaptive and stochastic factors that may shape the distribution of the genetic variability for aphally.

The mutant doublefoot, Dbf, of the mouse arose spontaneously, and was shown to be inherited as an autosomal dominant, mapping 9–13 cM proximal to leaden, ln, on chromosome 1 and showing no recombination with the microsatellite markers D1Mit24 and D1Mit77. In heterozygotes the phenotype includes many extra toes on all four feet, and the tibia and fibula may be reduced and bowed. The head is shortened and broad and the eyes are held half-closed, and some animals develop hydrocephalus. The tail is kinked and abnormally thick, and the soles of the feet are swollen. Growth is retarded, viability is reduced, and reproduction is impaired in both sexes. Only about 30 % of males are normally fertile, and testis weights and sperm counts may be reduced, although this appears not to be the main cause of poor fertility. In females vaginal opening is delayed and oestrous cycles are irregular, although the animals appear to respond to gonadotrophic hormones. Crosses of Dbf/ + × Dbf/ + are very poorly fertile. Prenatally, Dbf/ + heterozygotes can first be recognized at 11½ days gestation by abnormally broad fore limb buds. Putative Dbf/Dbf homozygotes at 12½ days have similar limbs defects and also split face, due to failure of the maxillae to fuse in the midline. Some homozygotes and a few putative heterozygotes have cranioschisis. At 13½ days, the heads of homozygotes tend to bulge in the frontal region and a bleb of clear fluid is visible medially. At 14½ days Dbf/Dbf fetuses may have oedema and some are dead. From 15½ days onwards no live Dbf/Dbf fetuses have been found. The gene maps close to the locus of Pax3, but crossovers between Dbf and Pax3 have been found, ruling out the possibility that a gain-of-function mutation in Pax3 might be involved.

We identify a fixed species difference in the relative concentrations of the cuticular hydrocarbons 2-methyl hexacosane and 5,9-pentacosadiene in Drosophilapseudoobscura and D. persimilis, and determine its genetic basis. In backcross males, this difference is due to genes on both the X and second chromosomes, while the other two major chromosomes have no effect. In backcross females, only the second chromosome has a significant effect on hydrocarbon phenotype, but dominant genes on the X chromosome could also be involved. These results differ in two respects from previous studies of Drosophila cuticular hydrocarbons: strong epistasis is observed between the chromosomes that producethe hydrocarbon difference in males, and the difference is apparently unrelated to the strong sexual isolation observed between these species.

Previous studies have shown that mice with paternal disomy for chromosome 11 are consistently larger at birth than their normal sibs, whereas mice with the maternal disomy are consistently smaller. An imprinting effect with monoallelic expression of some gene/s affecting growth was indicated. Here we show that the size differences become established prior to birth and are only maintained subsequently, indicating that the gene repression is limited to prenatal development. Fetal analysis was limited to 12·5–17·5 days post coitum. However by extrapolating the data backwards it could be calculated that both the maternal and paternal size effects might commence as early as 7 days post coitum, although possibly slightly later. It may be deduced that initiation of expression of the gene/s responsible may occur at about this time in development. The two disomy growth rates were mirror-images of each other, suggesting that expressed gene dosage is the underlying cause. Differential growth of the placentas of the two disomies was also found, and extrapolation of these data backwards suggested that the placental size differences were initiated later in development than those for the fetuses. The differential placental growth of the maternal and paternal disomies may therefore have developed independently or emerged as a consequence of the differential fetal growth. In either event it would seem that the expression of the responsible gene occurs in the fetus itself to cause the anomalies of growth. The data therefore provide information on the temporal and tissue specificity of the gene/s responsible for the chromosome 11 imprinting effects. Possible candidate genes are discussed.

A MINQUE(l) procedure, which is minimum norm quadratic unbiased estimation (MINQUE) method with 1 for all the prior values, is suggested for estimating variance and covariance components in a bio-model for diallel crosses. Unbiasedness and efficiency of estimation were compared for MINQUE(l), restricted maximum likelihood (REML) and MINQUE(θ) which has parameter values for the prior values. MINQUE(l) is almost as efficient as MINQUE(θ) for unbiased estimation of genetic variance and covariance components. The bio-model is efficient and robust for estimating variance and covariance components for maternal and paternal effects as well as for nuclear effects. A procedure of adjusted unbiased prediction (AUP) is proposed for predicting random genetic effects in the bio-model. The jack-knife procedure is suggested for estimation of sampling variances of estimated variance and covariance components and of predicted genetic effects. Worked examples are given for estimation of variance and covariance components and for prediction of genetic merits.

An HSR in chromosome 1 which is found in many feral populations of Mus musculus domesticus was shown in previous studies to consist of a high-copy long-range repeat cluster. One such cluster, MUT, showed distorted transmission ratios when introduced by female parents. MUT/ + offspring were preferentially recovered at the expense of + / + embryos in the progeny of ♀ MUT/+ x♂ +/+ but were found at the expected 1:1 ratio in reciprocal crosses. Preferential recovery of maternal MUT was due to lethality of postimplantation + /+ embryos. There was no distortion of the recovery ratio in MUT/+ x MUT/MUT progeny: maternal MUT and + clusters were present among live implants at a 1:1 ratio. Maternal and zygotic effects therefore contribute to the phenomenon. The mechanism of their interaction is unknown.

Theoretical models of the effects of selection against deleterious mutations on variation at linked neutral sites (background selection) are used to predict the relations between chromosomal location and genetic variability at the DNA level, in Drosophila melanogaster. The sensitivity of the predictions to variation in the mutation, selection and recombination parameters on which they are based is examined. It is shown that many features of the observed relations between chromosomal location and level of genetic diversity in D. melanogaster can be explained by background selection, especially if the weak selective forces acting on transposable elements are taken into account. In particular, the gradient in diversity in the distal portion of the X chromosome, and the lack of diversity on chromosome 4 and at the bases of the major chromosomes, can be fully accounted for. There are, however, discrepancies between predicted and observed values for some loci in D. melanogaster, which may reflect the effects of forces other than background selection.

We analyse patterns of the means and variances of genotypic fitnesses across different niches in a randomly mating haploid population. The population inhabits a spatially heterogeneous environment where it is subject to mutation and weak multilocus additive selection, with different selection coefficients in different niches. Approximate analytical expressions are derived for the stationary mean and variance of genotypic fitnesses among the niches in terms of environmental and genetic parameters. As a special case, we analyse an environment described by a variable t, distributed among the niches with mean t* and variance D*, and quadratic decrease in correlation between environments as a function of the difference in values of t. If the niches have the same qualities, the mean and variance of genotypic fitnesses evolve to be quadratic functions of t that achieve their maximum and minimum, respectively, at t*. With unequal niche qualities, these are non-polynomial functions that attain their extrema at different, usually intermediate values of t, although the coefficient of variation of the genotypic fitnesses still attains its minimum near t*. The functions involve the total mutation rate, the contribution of the loci to genotypic fitnesses, and the frequency and quality distributions of the niches. Thus, for this relatively simple model the norms of reaction may be calculated in terms of the detailed properties of the environmental heterogeneity, and the genetic system.

Material sampled along 11 rivers of the western part of Salix viminalis L. natural range (in Poland, Germany and Austria), as well as in stands in Sweden and Belgium, was assayed for 15 isozyme loci and cuttings were installed in two field experiments located in a nursery south of Uppsala, where growth traits were measured. These data were used to test hypotheses on the origin of Swedish populations, on the part played by rivers in the genetic differentiation and on the relative differentiation at isozyme and quantitative trait loci. Although significant, the overall population differentiation was low, the FST value being around 4%. Much higher FST values were observed between subpopulations from southern (Skåne) and central Sweden. This strong population differentiation, accompanied by significant linkage disequilibria, suggests the recent and diverse origin of Swedish populations. Degrees of differentiation between and within Polish river systems were of the same magnitude, indicating the presence of gene flow between river systems. Flow-regulated waterways, associated with higher human disturbance, may well explain why populations along rivers of the western part of the study area exhibited significant differentiation patterns while no differentiation could be detected along the less disturbed riparian habitats of eastern Poland. Finally, higher FST values were obtained for quantitative trait loci than for isozyme loci but, with two notable exceptions, their 95 % confidence intervals overlapped.

Despite the increasing number of studies on the magnitude of Ne/N ratios, much remains unknown about the effects of demographic and environmental variables on Ne/N. We determined Ne/N for seven population size treatments, ranging from N = 2 to N = 960, in the red flour beetle Tribolium castaneum. Ne/N decreased with increasing N, as evidenced by a significant negative relationship between log N and Ne/N. Our results are consistent with other published data on the relationship between Ne/N and N. Effective population sizes in large populations may be much smaller than previously recognized. These results have important implications for conservation and evolutionary biology.

Mapping quantitative trait loci (QTLs) for binary traits in backcross and F2 populations was investigated using stochastic stimulation. Data were analysed using either linear regression or a generalized linear model. Parameters which were varied in the simulations were the population size (200 and 500), heritability in the backcross or F2 population (0·01, 0·05, 0·10), marker spacing (10 and 20 cM) and the incidence of the trait (0·50, 0·25, 0·10). The methods gave very similar results in terms of estimates of the QTL location and QTL effects and power of QTL detection, and it was concluded that in practice treating the zero-one data as continuous and using standard linear regression was efficient.