Associations between heterozygosity and morphological variance

Recent studies have contrasted the expression of phenotypic traits, such as variance in morphological characters, with levels of genetic variation (heterozygosity) as determined by electrophoretic analysis of protein-coding loci. The theoretical basis for interpreting significant covariation stems in part from Lerner's work on genetic homeostasis, which predicts that within populations increased heterozygosity will produce decreased morphological variance, owing to a buffering effect of heterosis during development. However, the prediction for the relationship between genic heterozygosity and the variance of morphological traits among populations is unclear. To determine if a relationship existed between heterozygosity and morphological variance, we compared estimates of heterozygosity and morphological variance across 15 population samples of the fox sparrow and 17 samples of the pocket gopher. The estimates of morphological variance included coefficients of variation for each character and the variance of individual scores about the population mean in a principal components analysis. Although several recent studies have reported a significant relationship between heterozygosity and morphological variance, we found that the two measures do not covary significantly.     

Homeostasis,enzymatic heterozygosity and inbreeding depression in natural populations of Drosophila melanogaster

Brother-sister mating effects on offspring viability in natural populations of Drosophila melanogaster were analysed in relation to developmental homeostasis and enzymatic heterozygosity of the individuals constituting the sib pairs. High developmental homeostasis and high degree of heterozygosity are associated with a low inbreeding depression in offspring and, therefore, with a low frequency of major deleterious factors. These results are discussed in relation to maintenance of polymorphism in natural populations and the role of genetic load and founder events in speciation and adaptation. We conclude that an unusual environmental condition followed by a strong reduction in effective population size due to random elimination of individuals is a better candidate to speciation than an environmental shift leading to selection for homeostatic, highly heterozygous lethal-free individuals.     

Phenotypic plasticity in morphological traits in two populations of Drosophila melanogaster

Isofemale lines of two populations of Drosophila melanogaster, originating from France and Tanzania, were examined over a range of temperatures. Morphological traits showed distinct patterns in phenotypic plasticity; flies of the two populations differed in shape. Genotype-by-Environment (G*E) interactions were frequently found in the Tanzania population, but were hardly present in the France population. If G*E interaction was present over temperature, estimates of additive genetic variance and additive genetic covariance were made to compare theoretical models with our data. The conclusion is that in France Drosophila melanogaster has been selected over a wider range of temperatures, resulting in parallel reaction norms of more optimal slope. In contrast, selection must have taken place over a narrower temperature range in Tanzanian flies, and will have exerted no direct influence on the slope of the reaction norm.     

Enzymatic variation at seven loci in nine natural populations of Drosophila melanogaster

Allozyme polymorphisms at seven loci have been studied in nine natural populations of Drosophila melanogaster from the Saône and Rhône valleys sampled in 1973 and 1974. A great deal of polymorphism was observed; an individual was on the average heterozygous at 20.2% of its loci. The populations were genetically very homogeneous throughout the region sampled. The number of ovariolae per female varied from one group of populations to another depending on their geographical separation. Yet the number of ovariolae remained constant from one year to the next. The results show that migration alone cannot explain the homogeneity of the allozyme frequencies. It seems reasonable to conclude that selection plays a major role in maintaining the homogeneity of populations living in proximal biotopes.E.R.A. No. 406: Analyse et mécanismes de maintien du polymorphisme.     

Enzymatic studies of DNA repair in Drosophila melanogaster

Thus far, our studies in Drosophila have concentrated primarily on the various enzymes involved in the in vitro repair of modified or nonconventional DNA substrates. In some cases, our findings have led us to investigate events that may not have a bearing on DNA repair, but rather may be associated with developmental signals important to the maturation of the organism. As appealing as some of these models seem, however, they must await confirmation through detailed genetic studies before any substantial conclusions can be drawn. This combination of genetic and biochemical knowledge makes Drosophila an exciting organism for an eventual detailed understanding of the developmental expression and cellular location of DNA-repair systems.     

Some comments on the variance of heterozygosity in finite populations

A new and more accurate formula for the variance of heterozygosity under genetic drift has been obtained. The variance can be partitioned into two components; the first comes from the dispersion of the allelic frequencies among populations, and the second from the dispersion of the actual heterozygosity, h, around their expected values, 2pq. A certain generation exists where the variance reaches a maximum; thus, the genetic drift can be split into two phases by this single maximum.     

Electrophoretic variability in natural populations of Drosophila melanogaster and Drosophila simulans

Genetic variation at 59 gene loci coding for enzymes (50) and larval proteins (9) has been studied in sympatric populations of Drosophila melanogaster and D. simulans from insular and continental origin. The average number of alleles per locus, the mean proportion of polymorphic loci and the mean heterozygosity are similar both within and between species. There are however some significant differences between D. simulans populations in the genotypic frequencies for four polymorphic loci.     

Joint estimates of quantitative trait locus effect and frequency using synthetic recombinant populations of Drosophila melanogaster

We develop and implement a strategy to map QTL in two synthetic populations of Drosophila melanogaster each initiated with eight inbred founder strains. These recombinant populations allow simultaneous estimates of QTL location, effect, and frequency. Five X-linked QTL influencing bristle number were resolved to intervals of approximately 1.3 cM. We confirm previous observations of bristle number QTL distal to 4A at the tip of the chromosome and identify two novel QTL in 7F-8C, an interval that does not include any classic bristle number candidate genes. If QTL at the tip of the X are biallelic they appear to be intermediate in frequency, although there is evidence that these QTL may reside in multiallelic haplotypes. Conversely, the two QTL mapping to the middle of the X chromosome are likely rare: in each case the minor allele is observed in only 1 of the 16 founders. Assuming additivity and biallelism we estimate that identified QTL contribute 1.0 and 8.7%, respectively, to total phenotypic variation in male abdominal and sternopleural bristle number in nature. Models that seek to explain the maintenance of genetic variation make different predictions about the population frequency of QTL alleles. Thus, mapping QTL in eight-way recombinant populations can distinguish between these models.     

Enzyme polymorphism in Drosophila melanogaster populations in Iraq

Electrophoretic studies of the degree and pattern of polymorphism at two third-chromosome loci, esterase-6 (Est-6) and phosphoglucomutase (PGM), were carried out in three Drosophila melanogaster populations collected from different localities in Iraq: Mosul, Tuwaitha, and Basrah. The results show that only the Tuwaitha population was polymorphic for both loci; the other two populations were polymorphic for Est-6 and monomorphic for PGM. The allele frequency changes at both loci were followed for 20 generations in an experimental cage derived from the Tuwaitha population; it was found that there is a deviation from Hardy-Weinberg equilibrium at both loci toward the homozygote.     

Potential variance affecting homeotic Ultrabithorax and Antennapedia phenotypes in Drosophila melanogaster

Introgression of homeotic mutations into wild-type genetic backgrounds results in a wide variety of phenotypes and implies that major effect modifiers of extreme phenotypes are not uncommon in natural populations of Drosophila. A composite interval mapping procedure was used to demonstrate that one major effect locus accounts for three-quarters of the variance for haltere to wing margin transformation in Ultrabithorax flies, yet has no obvious effect on wild-type development. Several other genetic backgrounds result in enlargement of the haltere significantly beyond the normal range of haploinsufficient phenotypes, suggesting genetic variation in cofactors that mediate homeotic protein function. Introgression of Antennapedia produces lines with heritable phenotypes ranging from almost complete suppression to perfect antennal leg formation, as well as transformations that are restricted to either the distal or proximal portion of the appendage. It is argued that the existence of "potential" variance, which is genetic variation whose effects are not observable in wild-type individuals, is a prerequisite for the uncoupling of genetic from phenotypic divergence.     

Developmental thermal plasticity among Drosophila melanogaster populations

Many biotic and abiotic variables influence the dispersal and distribution of organisms. Temperature has a major role in determining these patterns because it changes daily, seasonally and spatially, and these fluctuations have a significant impact on an organism's behaviour and fitness. Most ecologically relevant phenotypes that are adaptive are also complex and thus they are influenced by many underlying loci that interact with the environment. In this study, we quantified the degree of thermal phenotypic plasticity within and among populations by measuring chill‐coma recovery times of lines reared from egg to adult at two different environmental temperatures. We used sixty genotypes from six natural populations of Drosophila melanogaster sampled along a latitudinal gradient in South America. We found significant variation in thermal plasticity both within and among populations. All populations exhibit a cold acclimation response, with flies reared at lower temperatures having increased resistance to cold. We tested a series of environmental parameters against the variation in population mean thermal plasticity and discovered the mean thermal plasticity was significantly correlated with altitude of origin of the population. Pairing our data with previous experiments on viability fitness assays in the same populations in fixed and variable environments suggests an adaptive role of this thermal plasticity in variable laboratory environments. Altogether, these data demonstrate abundant variation in adaptive thermal plasticity within and among populations.     

The changes in genetic and environmental variance with inbreeding in Drosophila melanogaster

We performed a large-scale experiment on the effects of inbreeding and population bottlenecks on the additive genetic and environmental variance for morphological traits in Drosophila melanogaster. Fifty-two inbred lines were created from the progeny of single pairs, and 90 parent-offspring families on average were measured in each of these lines for six wing size and shape traits, as well as 1945 families from the outbred population from which the lines were derived. The amount of additive genetic variance has been observed to increase after such population bottlenecks in other studies; in contrast here the mean change in additive genetic variance was in very good agreement with classical additive theory, decreasing proportionally to the inbreeding coefficient of the lines. The residual, probably environmental, variance increased on average after inbreeding. Both components of variance were highly variable among inbred lines, with increases and decreases recorded for both. The variance among lines in the residual variance provides some evidence for a genetic basis of developmental stability. Changes in the phenotypic variance of these traits are largely due to changes in the genetic variance.     

History and structure of sub-Saharan populations of Drosophila melanogaster

Drosophila melanogaster is an important model organism in evolutionary genetics, yet little is known about the population structure and the demographic history of this species within sub-Saharan Africa, which is thought to contain its ancestral range. We surveyed nucleotide variation at four 1-kb fragments in 240 individual lines representing 21 sub-Saharan and 4 Palearctic population samples of D. melanogaster. In agreement with recent studies, we find a small but significant level of genetic differentiation within sub-Saharan Africa. A clear geographic pattern is observed, with eastern and western African populations composing two genetically distinct groups. This pattern may have resulted from a relatively recent establishment of D. melanogaster in western Africa. Eastern populations show greater evidence for long-term stability, consistent with the hypothesis that eastern Africa contains the ancestral range of the species. Three sub-Saharan populations show evidence for cosmopolitan introgression. Apart from those cases, the closest relationships between Palearctic and sub-Saharan populations involve a sample from the rift zone (Uganda), suggesting that the progenitors of Palearctic D. melanogaster might have come from this region. Finally, we find a large excess of singleton polymorphisms in the full data set, which is best explained by a combination of population growth and purifying selection.