Investigations on the genetics and population genetics of the β2 polymorphism

Summary The results of studies on 49 families with 107 children and various populations of Caucasoid, Negroid and Mongoloid origin concerning the genetics and population genetics of the ₂-glycoprotein I polymorphism are reported. In general the genetical model proposed by Cleve (1968) is confirmed: two autosomal alleles Bg^N and Bg^D controlling the phenotypes Bg N-N, Bg N-D and Bg D-D. However, divergences from this model were found in two families. They indicate the assumption of non-genetic factors influencing the phenotype expression rather than more complicated genetical control mechanisms. Within Caucasoid populations phenotype and gene frequencies show almost a homogeneous distribution. This racial stock is striking due to a significant higher ₂-glycoprotein I concentration in serum as compared to Negroids and Mongoloids. In connection with this, these racial stocks differ obviously in the gene frequencies: Caucasoids Bg^N=0.937, Negroids=0.742, Mongoloids =0.780; resp. Bg^D=0.063, 0.258, 0.220.Supported by the Deutsche Forschungsgemeinschaft.D 77.     

An introduction to the mathematical structure of the Wright–Fisher model of population genetics

In this paper, we develop the mathematical structure of the Wright–Fisher model for evolution of the relative frequencies of two alleles at a diploid locus under random genetic drift in a population of fixed size in its simplest form, that is, without mutation or selection. We establish a new concept of a global solution for the diffusion approximation (Fokker–Planck equation), prove its existence and uniqueness and then show how one can easily derive all the essential properties of this random genetic drift process from our solution. Thus, our solution turns out to be superior to the local solution constructed by Kimura.     

Investigations on the population genetics of the α1-antitrypsin polymorphism

Summary The results of Pi-typing on 2647 individuals from 9 populations are reported. Of the 17 phenotypes and 9 alleles described in literature, we found 12 phenotypes and 8 alleles. The population smaples differ characteristically in their allele frequencies. The allle Pi^M appears constantly in all populations tested with a frequency of more than 0.85. The alleles Pi^F (0.01–0.11), Pi^S (0.01–0.02) and Pi^Z (0.01–0.02) were also relatively frequent in all samples. All the other alleles remain below 0.01. A great increase in the number of Pi-variants was observed in the Central European area. The frequency of ₁-at variants in various populations is discussed.Supported by the Deutsche Forschungsgemeinschaft.Dedicated to Prof. W. Lehmann, Kiel, on his 65th birthday.     

Did maize domestication and early spread mediate the population genetics of corn leafhopper?

Investigating how crop domestication and early farming mediated crop attributes, distributions, and interactions with antagonists may shed light on today's agricultural pest problems. Crop domestication generally involved artificial selection for traits desirable to early farmers, for example, in creased productivity or yield, and enhanced qualities, though invariably it altered the interactions between crops and insects, and expanded the geographical ranges of crops. Thus, some studies suggest that with crop domestication and spread, insect populations on wild crop ancestors gave rise to pestiferous insect populations on crops. Here, we addressed whether the emergence of corn leafhopper (Dalbulus ma id is) as an agricultural pest may be associated with domestication and early spread of maize (Zea mays mays). We used AFLP markers and mitochondrial COI sequences to assess population genetic structuring and haplotype relationships among corn leafhopper samples from maize and its wild relative Zea diploperennis from multiple locations in Mexico and Argentina. We uncovered seven corn leafhopper haplotypes contained within two haplogroups, one haplogroup containing haplotypes associated with maize and the other containing haplotypes associated with Z. diploperennis in a mountainous habitat. Within the first haplogroup, one haplotype was predominant across Mexican locations, and another across Argentinean locations;both were considered pestiferous. We suggested that the divergence times of the maize-associated haplogroup and of the "pestiferous" haplotypes are correlated with the chronology of maize spread following its domestication. Overall, our results support a hypothesis positing that maize domestication favored corn leafhopper genotypes preadapted for exploiting maize so that they became pestiferous, and that with the geographical expansi on of maize farming, corn leafhopper colonized Z. diploperennis, a host exclusive to secluded habitats that serves as a refuge for archaic corn leafhopper genotypic diversity. Broadly, our results help explain the extents to which crop domestication and early spread may have mediated the emergence of today's agricultural pests.     

Faà di Bruno's formula and the distributions of random partitions in population genetics and physics

We show that the formula of Faà di Bruno for the derivative of a composite function gives, in special cases, the sampling distributions in population genetics that are due to Ewens and to Pitman. The composite function is the same in each case. Other sampling distributions also arise in this way, such as those arising from Dirichlet, multivariate hypergeometric, and multinomial models, special cases of which correspond to Bose–Einstein, Fermi–Dirac, and Maxwell–Boltzmann distributions in physics. Connections are made to compound sampling models.     

The impact of parasitoid emergence time on host–parasitoid population dynamics

We investigate the effect of parasitoid phenology on host–parasitoid population cycles. Recent experimental research has shown that parasitized hosts can continue to interact with their unparasitized counterparts through competition. Parasitoid phenology, in particular the timing of emergence from the host, determines the duration of this competition. We construct a discrete-time host–parasitoid model in which within-generation dynamics associated with parasitoid timing is explicitly incorporated. We found that late-emerging parasitoids induce less severe, but more frequent, host outbreaks, independent of the choice of competition model. The competition experienced by the parasitized host reduces the parasitoids’ numerical response to changes in host numbers, preventing the ‘boom-bust’ dynamics associated with more efficient parasitoids. We tested our findings against experimental data for the forest tent caterpillar (Malacosoma disstria Hübner) system, where a large number of consecutive years at a high host density is synonymous with severe forest damage.     

Plague dynamics and population genetics of the desert locust: can turnover during recession maintain population genetic structure?

The desert locust (Schistocerca gregaria) undergoes crowding-induced phase transformation from solitary form to gregarious form. The transformations involves changes in behaviour, colour, development, morphometry, fecundity and endocrine physiology. Recession populations of the desert locust exist primarily in the solitary phase as small populations in patchy environments and are prone to extinction because of climatic events. Significant genetic differentiation among recession populations along the Red Sea coast of Eritrea was previously reported. It was hypothesized that despite the mixing effect of recurrent swarms, metapopulation dynamics could have produced genetic divergence among these highly scattered recession populations. A Monte Carlo simulation of the population dynamics of the desert locust in a metapopulation setting, with a realistic range of parameter values clearly demonstrated that this is possible. Population growth was represented by a discrete-time logistic equation. The duration of recessions and swarms was sampled from normal distributions whose means and standard deviations were varied based on reported estimates. An average recession duration of 10 +/- 3 generations and swarm periods half as long but almost twice as variable produced a partitioning of the total genetic variance most similar to that in the empirical study. In conventional metapopulation analysis, whether turnover leads to increased or reduced divergence is dependent on the number of colonists relative to the number of recurrent migrants, and on whether the colonists arise from a single patch or many patches. In the case of locusts, the stochastic boom and bust cycle is the overriding factor. Divergence between patches during recession due to founder effect and recurrent drift is balanced by the high rate of mixing during plagues.     

Comparative population genetics of the immunity gene, Relish: is adaptive evolution idiosyncratic?

The frequency of adaptive evolution acting on common loci in distant lineages remains an outstanding question in evolutionary biology. We asked whether the immunity factor, Relish, a gene with a history of directional selection in Drosophila simulans, shows evidence of a similar selective history in other Drosophila species. We found only weak evidence of recurrent adaptive protein evolution at the Relish locus in three sister species pairs, suggesting that this key component of the insect immune system has an idiosyncratic evolutionary history in Drosophila.     

Science,philosophy, and politics in the work of J. B. S. Haldane, 1922–1937

This paper analyzes the interaction between science, philosophy and politics (including ideology) in the early work of J. B. S. Haldane (from 1922 to 1937). This period is particularly important, not only because it is the period of Haldane's most significant biological work (both in biochemistry and genetics), but also because it is during this period that his philosophical and political views underwent their most significant transformation. His philosophical stance first changed from a radical organicism to a position far more compatible with mechanical materialism. The primary intellectual influence that was responsible for this shift was that of F. G. Hopkins. Later, Haldane came to accept Marxism and its official metaphysics, dialectical materialism, a move that let him accept the materialist conception of the world while still maintaining a resolute distance from mechanism. Throughout all these changes, what is most obvious is the influence of science on Haldane's philosophical views. An influence in the opposite direction is far less apparent.Parts of this paper are extracted from a longer work which concerns the interactions between philosophy and science throughout Haldane's scientific career (Sarkar forthcoming). The general conclusions reached here, from a consideration of Haldane's work only from 1922 to 1937 (see Section 6), remain the same for the rest of his life, as is detailed in the longer work. Thanks are due to R. S. Cohen, J. F. Crow, A. R. Fersht, J. Maynard Smith, R. C. Olby, D. Paul, M. Ruse, J. Stachel and S. Sturdy for helpful discussions and comments and criticism of the positions outlined in this paper. This is Contribution No. BTBG-92-4 from the Theoretical Biology Group, Boston University.     

Hunter–Gatherer population structure and the evolution of contingent cooperation

Unlike other vertebrates, humans cooperate in large groups with unrelated individuals. Many authors have argued that the evolution of such cooperation has resulted from reciprocity and other forms of contingent cooperation. This argument is not well supported by existing theory. The theory of contingent cooperation in pairs is well developed: reciprocating strategies are stable when common, and can increase when rare as long as population structure leads to modest levels of relatedness. In larger groups, however, it is not clear whether contingent cooperation can increase when rare. Existing work suggests that contingent strategies cannot increase unless relatedness is high, but depends on unrealistic assumptions about the effects of population structure. Here we develop and analyze a model incorporating a two level population structure that captures important features of human hunter–gatherer societies. This model suggests that previous work underestimates the range of conditions under which contingent cooperation can evolve, but also predicts that cooperation will not evolve unless (1) social groups are small, and (2) the relatedness within ethnolinguistic groups is at the high end of the range of empirical estimates.     

Chronic stress and Alzheimer's disease: the interplay between the hypothalamic–pituitary–adrenal axis,genetics and microglia

Chronic psychosocial stress is increasingly being recognised as a risk factor for sporadic Alzheimer's disease (AD). The hypothalamic–pituitary–adrenal axis (HPA axis) is the major stress response pathway in the body and tightly regulates the production of cortisol, a glucocorticoid hormone. Dysregulation of the HPA axis and increased levels of cortisol are commonly found in AD patients and make a major contribution to the disease process. The underlying mechanisms remain poorly understood. In addition, within the general population there are interindividual differences in sensitivities to glucocorticoid and stress responses, which are thought to be due to a combination of genetic and environmental factors. These differences could ultimately impact an individuals’ risk of AD. The purpose of this review is first to summarise the literature describing environmental and genetic factors that can impact an individual's HPA axis reactivity and function and ultimately AD risk. Secondly, we propose a mechanism by which genetic factors that influence HPA axis reactivity may also impact inflammation, a key driver of neurodegeneration. We hypothesize that these factors can mediate glucocorticoid priming of the immune cells of the brain, microglia, to become pro-inflammatory and promote a neurotoxic environment resulting in neurodegeneration. Understanding the underlying molecular mechanisms and identifying these genetic factors has implications for evaluating stress-related risk/progression to neurodegeneration, informing the success of interventions based on stress management and potential risks associated with the common use of glucocorticoids.     

The singular fate of genetics in the history of French biology, 1900–1940

In this study we have examined the reception of Mendelism in France from 1900 to 1940, and the place of some of the extra-Mendelian traditions of research that contributed to the development of genetics in France after World War II. Our major findings are:

Co-phylogeography and comparative population genetics of the threatened Galápagos hawk and three ectoparasite species: ecology shapes population histories within parasite communities

Comparative microevolutionary studies of multiple parasites occurring on a single host species can help shed light on the processes underlying parasite diversification. We compared the phylogeographical histories, population genetic structures and population divergence times of three co-distributed and phylogenetically independent ectoparasitic insect species, including an amblyceran and an ischnoceran louse (Insecta: Phthiraptera), a hippoboscid fly (Insecta: Diptera) and their endemic avian host in the Galápagos Islands. The Galápagos hawk (Aves: Falconiformes: Buteo galapagoensis) is a recently arrived endemic lineage in the Galápagos Islands and its island populations are diverging evolutionarily. Each parasite species differed in relative dispersal ability and distribution within the host populations, which allowed us to make predictions about their degree of population genetic structure and whether they tracked host gene flow and colonization history among islands. To control for DNA region in comparisons across these phylogenetically distant taxa, we sequenced ~1 kb of homologous mitochondrial DNA from samples collected from all island populations of the host. Remarkably, the host was invariant across mitochondrial regions that were comparatively variable in each of the parasite species, to degrees consistent with differences in their natural histories. Differences in these natural history traits were predictably correlated with the evolutionary trajectories of each parasite species, including rates of interisland gene flow and tracking of hosts by parasites. Congruence between the population structures of the ischnoceran louse and the host suggests that the ischnoceran may yield insight into the cryptic evolutionary history of its endangered host, potentially aiding in its conservation management.     

Rural–urban gradients and the population genetic structure of woodland ground beetles

Genetic diversity and differentiation of two carabid beetle species were examined in woodlands along rural–urban gradients in two cities (Brussels, Belgium, and Birmingham, UK), based on allozymes, studied in more than 1000 beetles. Compared to Abax ater, Pterostichus madidus showed higher levels of genetic diversity but lower genetic differentiation, probably because of its ability to survive in non-forest habitats. Higher genetic diversity in both species was observed in Brussels as compared to Birmingham. However, genetic differentiation among sites was higher in Birmingham corresponding to the more extreme degree of fragmentation and isolation between the Birmingham woodlands. The isolation-by-distance model did not explain genetic differentiation among sites within the two regions. Gene diversity in P. madidus Birmingham populations was higher in smaller urban forests with a small perimeter. A similar absence of genetic erosion in smaller and more highly modified (urban) populations was also obtained for A. ater populations from Brussels, with a higher genetic diversity in sites closer to woodland edges. This unexpected result is hypothesised to be the result of an adaptive increase of genetic diversity in more heterogeneous landscapes, closer to woodland edges and in smaller and more perturbed forests.     

Ain't misbehavin' ? Genotype-environment interactions and the genetics of behavior

Although the multiple interacting genes affecting complex traits can readily be dissected, how much genotype-environment interactions contribute to variation in complex traits remains elusive. A recent study that quantified several behavioral phenotypes on the same mouse strains in different laboratories decades apart, shows that some behavioral differences between laboratories remain greatly replicable, whereas others are less robust over time. This report, together with studies from Drosophila, stresses the importance of understanding genotype-environment interactions.