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At least 19 recordsLinked to original sources
PubMed1985

Population bottlenecks and nonequilibrium models in population genetics. II. Number of alleles in a small population that was formed by a recent bottleneck.

A model is presented in which a large population in mutation/drift equilibrium undergoes a severe restriction in size and subsequently remains at the small size. The rate of loss of genetic variability has been studied. Allelic loss occurs more rapidly than loss of genic heterozygosity. Rare alleles are lost especially rapidly. The result is a transient deficiency in the total number of alleles observed in samples taken from the reduced population when compared with the number expected in a sample from a steady-state population having the same observed heterozygosity. Alternatively, the population can be considered to possess excess gene diversity if the number of alleles is used as the statistical estimator of mutation rate. The deficit in allele number arises principally from a lack of those alleles that are expected to appear only once or twice in the sample. The magnitude of the allelic deficiency is less, however, than the excess that an earlier study predicted to follow a rapid population expansion. This suggests that populations that have undergone a single bottleneck event, followed by rapid population growth, should have an apparent excess number of alleles, given the observed level of genic heterozygosity and provided that the bottleneck has not occurred very recently. Conversely, such populations will be deficient for observed heterozygosity if allele number is used as the sufficient statistic for the estimation of 4Nev. Populations that have undergone very recent restrictions in size should show the opposite tendencies.

Alleles↗
PubMed1975

Attributable risk, population attributable risk, and population attributable fraction of death associated with hypertension in a biracial population.

In 1961, blood pressure was measured in the 40-69-year-old segment of the population of Evans County, Georgia. Mortality was monitored for up to ten years. The relationship found between hypertension and mortality is characterized in this report by four parameters: attributable risk, prevalence, population attributable risk, and population attributable fraction. Attributable risk of death, a measure of the over-all impact of hypertension on those in each race-sex group with hypertension, is high in white males, black males, and black females, and is lowest in white females. Population attributable risk, a measure of the impact of hypertension on each entire race-sex group, is highest in black males and females due to the high prevalence of hypertension in blacks. It is somewhat lower in white males and lowest in white females. The fraction of all deaths attributable to hypertension (population attributable fraction) is highest in black females and lower in the other three groups. The population attributable fraction (ranging from 0.26 to 0.54 for systolic hypertension) is of such magnitude that if the 50% reduction in mortality achieved in the Veteran Administration Cooperative Study could be repeated in the general population, life expectancy after 40 years of age could be substantially increased.

Adult↗
PubMed1988

Population dynamics of movable genetic elements in Japanese natural populations of Drosophila melanogaster. I. Microevolution of male recombination determinants in experimental populations.

Five natural populations of D. melanogaster in Japan were surveyed for male recombination frequency in terms of the quantities of the mean and variance after crossing with cn bw females. The experimental condition enabled P-M system hybrid dysgenesis to take place. The means were not so different from one another, but there was a vast variation in the variances between them. Using one of these populations, two additional experimental populations were started, and the male recombination frequencies were monitored for 30 generations. Both the means and variances decreased in value at 25 degrees C. The regression line was Y = -0.000030X + 0.001706 on generation for the mean values, and was Y = -0.000098X + 0.005068 for the standard deviations in the cage population. There was no correlation between the means or the standard deviations and the copy numbers of the members of P element family as a whole. The experimental results indicate that the complete P transposable elements still retained in population were decreased in frequency and replaced by its degenerative nonautonomous forms.

Analysis of Variance↗
PubMed1985

Population bottlenecks and nonequilibrium models in population genetics. III. Genic homozygosity in populations which experience periodic bottlenecks.

The amount of variability in a population that experiences repeated restrictions in population size has been calculated. The restrictions in size occur cyclically with a fixed cycle length. Analytical formulas for describing the gene identity at any specific time in the expanded and restricted phases of the cycle, and for the average and second moment of the gene identity, have been derived. It is shown that the level of genetic diversity depends critically on the two parameters that account for the population size, mutation rate and the time of duration for each of the two phases in the cycle. If one or both of these composite parameters are small, the gene diversity will be much reduced, and population gene diversity will then be predictable from knowledge of the harmonic mean population size over the entire cycle. If these parameters take on intermediate values, diversity changes constantly during the cycle, fluctuating steadily from a high to a low value and back again. If these parameters are large, gene diversity will fluctuate rapidly between extreme values and will stay at the extremes for long periods of time.

Gene Frequency↗
PubMed1989

[Population density as a regulation factor of genetic structure and size of animal populations. Phenotypic variability of reaction to increase in density in Drosophila populations].

The presence of considerable level of phenotypic variability for the nature of fertility change in conditions of imago density increase has been shown in Drosophila natural populations. Genetic peculiarities of insects play the main role in its determination. The genotype groups sensitive and stable to density increase exist in the populations. The former have relatively high fertility at low density and low fertility at overcrowding. The latter are of contrary nature of fertility at given density conditions.

Analysis of Variance↗
PubMed1988

[Comparative studies of the population structure of a Kurd village population of Southeast Turkey. II. Morphologic differentiation within the population].

A small scale village society from southern Turkey has been investigated by demographic, social and anthropological criteria. An internal differentiation of the population on the basis of demographic and social data could be verified for morphological features, too. This is shown clearly by a differentiation of the population into two family complexes. The consequences for the interpretation of metrical random sample surveys in typological investigations are discussed.

Adult↗
PubMed2026

Discovering common and population-specific QTLs for leaf rust resistance in different Barley populations.

Multi-population GWAS lead to identification of common and population-specific QTLs for leaf rust resistance in barley. Genome-wide association studies (GWAS) are a powerful tool for detecting genetic markers associated with traits of interest. However, these studies are typically restricted to a single population, and transferability of identified marker effects across populations is challenged by population differences in linkage, allele frequencies, epistatic effects, and environmental context. When comparing GWAS results between populations, a lack of overlapping signals is often interpreted as a lack of common quantitative trait loci (QTLs), although such discrepancies may result from differences in statistical power to detect signals. In barley (Hordeum vulgare L.), where genetic leaf rust resistance is rapidly overcome by evolving pathogens, identification of cross-population robust and potentially transferable resistance loci is a key task. Here, we present a mixed model approach for multi-population GWAS that estimates correlated marker effects in multiple populations and use this to test for significant effects across and within populations. Applying this model to four barley breeding populations revealed both common and population-specific QTL effects for leaf rust resistance, including loci colocalizing with known Rph genes and novel regions with plausible candidate genes. Multi-population GWAS increased power, revealing signals not detected by GWAS within populations. We categorized the reported QTLs into three groups based on marker-associated allele effects: (1) consistent effect direction across populations, (2) differing effect direction across populations, and (3) present in a single population. The study highlights the transferability and limitations of leaf rust resistance QTLs across different barley populations and provides a general statistical framework to support robust marker-assisted selection across populations.

Quantitative Trait Loci↗
PubMed1987

The genetic structure of natural populations of Drosophila melanogaster. XX. Comparison of genotype-environment interaction in viability between a northern and a southern population.

In order to examine the operation of diversifying selection as the maintenance mechanism of excessive additive genetic variance for viability in southern populations in comparison with northern populations of Drosophila melanogaster, two sets of experiments were conducted using second chromosomes extracted from the Ogasawara population (a southern population in Japan) and from the Aomori population (a northern population in Japan). Chromosomal homozygote and heterozygote viabilities were estimated in eight kinds of artificially produced breeding environments. The main findings in the present investigation are as follows: (1) Significant genotype-environment interaction was observed using chromosomes extracted from the Ogasawara population. Indeed, the estimate of the genotype-environment interaction variance for heterozygotes was significantly larger than that of the genotypic variance. On the other hand, when chromosomes sampled from the Aomori population were examined, that interaction variance was significant only for homozygotes and its value was no more than one quarter of that for the chromosomes from the Ogasawara population. (2) The average genetic correlation between any two viabilities of the same lines estimated in the eight kinds of breeding environments for the chromosomes sampled from the Ogasawara population was smaller than that for the chromosomes from the Aomori population both in homozygotes and in heterozygotes, especially in the latter. (3) The stability of heterozygotes over homozygotes against fluctuations of environmental conditions was seen in the chromosomes from the Ogasawara population, but not from the Aomori population. (4) From the excessive genotype-environment interaction variance compared with the genotypic variance in heterozygotes, it was suggested for the chromosomes from the Ogasawara population that the reversal of viability order between homozygotes took place in some environments at the locus level. On the basis of these findings, it is strongly suggested that diversifying selection is operating in a southern population of D. melanogaster on some of the viability polygenes which are probably located outside the structural loci, and the excessive additive genetic variance of viability in southern populations is maintained by this type of selection.

Alleles↗
PubMed1987

Genetic differentiation of quantitative characters between populations or species. II: Optimal selection in infinite populations.

Using a new and more general genetic model called the discrete-allelic state model and assuming discrete-time process, the evolutionary changes of genetic variation of quantitative characters, controlled by a few loci, within and between populations during the process of genetic differentiation of populations or species, are studied under the effects of mutation and centripetal selection in infinitely large populations. While in a finite population and ignoring selection, the rate of change of additive genetic variance depends on mutation and effective population size, traits under optimal selection in infinitely large populations go through the dynamics of a rather complicated form depending on the relative intensities of selection and mutation. When a population, which has reached steady-state by mutation-selection balance, splits into two, in one of which the same optimum genotype holds but in the other the optimum shifts a few standard deviations away from the original optimum, the corresponding daughter population starts differentiating from its sister population by favouring certain class of mutant alleles and discarding others which were originally favoured. During this process of turn over of genes, both the intra- and inter-populational variances undergo a complicated change, and the ratio of the former to the latter is a non-linear function of time of divergence. This pattern is qualitatively very different from the case when selection is absent. The intra-population distribution of genotypic values, during this transition, is shown to deviate considerably from normality. The presence of linkage seems to retard the accumulation of intra-populational genetic variance. The implications of these results are discussed in comparison with the earlier findings of evolutionary models of quantitative traits.

Alleles↗
PubMed1973

Population growth in planaria Dugesia tigrina (gerard). Regulation by the absolute number in the population.

Planaria reproduce by transverse fission. Isolated worms increase in number exponentially, while social animals at the same density are inhibited in terms of numerical increase, but over a 25 day period undergo a larger increase in mass. Isolated posterior fission products reproduce faster than isolated anterior fission products. Regulation of population growth is independent of density over a 16-fold range and regulatory factors cannot be demonstrated in the medium. Regulation of population growth depends on direct contact between animals. Fission period varies from individual to individual and from period to period for a given individual. Doubling time is related to the absolute number of individuals comprising the population as follows: P(N) = (P(M) . N)/(K + N), where P(N) is the doubling period of a population of N individuals, P(M) is the doubling time of an infinitely large population, N is the number of individuals in the population, and K is the number of individuals in a population the period of which is one-half P(M). At 22 degrees -24 degrees C P(M) is estimated to be 43.3 days and K is 1.87 individuals. A model system assumes that inhibitor flows through the population from animal to animal from the slowest to the fastest animal in the population thus acting to synchronize population increase as well as to determine the rate of population growth. A possible source of the inhibitor is discussed.

Animals↗
PubMed1988

Population amalgamation and genetic variation: observations on artificially agglomerated tribal populations of Central and South America.

The interpretation of data on genetic variation with regard to the relative roles of different evolutionary factors that produce and maintain genetic variation depends critically on our assumptions concerning effective population size and the level of migration between neighboring populations. In humans, recent population growth and movements of specific ethnic groups across wide geographic areas mean that any theory based on assumptions of constant population size and absence of substructure is generally untenable. We examine the effects of population subdivision on the pattern of protein genetic variation in a total sample drawn from an artificial agglomerate of 12 tribal populations of Central and South America, analyzing the pooled sample as though it were a single population. Several striking findings emerge. (1) Mean heterozygosity is not sensitive to agglomeration, but the number of different alleles (allele count) is inflated, relative to neutral mutation/drift/equilibrium expectation. (2) The inflation is most serious for rare alleles, especially those which originally occurred as tribally restricted "private" polymorphisms. (3) The degree of inflation is an increasing function of both the number of populations encompassed by the sample and of the genetic divergence among them. (4) Treating an agglomerated population as though it were a panmictic unit of long standing can lead to serious biases in estimates of mutation rates, selection pressures, and effective population sizes. Current DNA studies indicate the presence of numerous genetic variants in human populations. The findings and conclusions of this paper are all fully applicable to the study of genetic variation at the DNA level as well.

Alleles↗
PubMed1991

Sick population--treated population: the need for a better definition. The VALIDATA Group.

There are many questions concerned with therapy and its application. Depending on the perspective of the study there can be several "populations" which, when considered individually, may give different, or even inconsistent conclusions. These populations are: the sick population, the therapist's target population, the eligible population for a study, the study population, the treatment target population, and the treatment distribution population. Semantic precision, giving a better definition of the populations, is an essential prerequirement in order to tackle scientifically all the facets of assessment of therapy. Accurate definition will help in the study of areas as varied as the methodology, the therapeutic studies, the validity of the recommendations made, the impact of these recommendations on prescription, and finally, the consequences of the prescription in terms of public health (clinical and economical). Several examples are given to show the relationship between these populations and the importance of an accurate definition for each. Guidelines for the identification of these populations are provided. In this overall approach to therapy, epidemiology is an essential, complementary tool to clinical trials.

Adrenergic beta-Antagonists↗
PubMed1986

The ecological genetics of introduced populations of the giant toad, Bufo marinus. IV. Gene flow estimated from admixture in Australian populations.

Allele frequency variation is described at nine polymorphic enzyme loci in 21 samples from populations of the introduced Giant Toad, Bufo marinus, in the region of Townsville in north Queensland, Australia. Some of these populations appear to have been established through the introgression of other populations that previously had been isolated. Comparisons of allele frequencies at three polymorphic loci between the introgressed populations and the original populations are used to obtain admixture estimates. These are used to estimate a rate of gene flow among the populations of approximately 2 km/year. This is consistent with an estimate based on the rate at which Bufo marinus has colonised new areas in Australia when discontinuities in the pattern of this colonisation are taken into account. The estimate of gene flow is combined with published data on population density to estimate neighbourhood size. The estimate obtained is substantially greater than the effective population size estimate determined previously from data on allele frequency variances in other populations. This discrepancy is most likely due to inaccuracies in the population density estimates, to underestimates of the extent of offspring number variance and perhaps to occasional departures from sex ratio parity. It has important implications for the study of the genetic structure of populations which are discussed.

Alleles↗
PubMed1987

Digital dermatoglyphics in the Basque population: univariate and multivariate comparison with other Spanish populations.

We have analyzed dermatoglyphic finger patterns in a Spanish Basque population (841 males and 911 females). Bimanual and sexual comparisons have been carried out by means of contingency analysis. The results in the Basque population are compared with those of other Spanish populations, based on univariate (chi 2 contingency test and Student's t-test) and multivariate (principal components analyses) statistical methods. Bilateral distribution asymmetry and sexual dimorphism were observed in the Basque sample. The results of the chi 2 test for pattern types in males and females show statistically significant differences between the Basques and other Spanish populations, with the exception of the males from El Bierzo. Comparing populations with regard to the Pattern Intensity Index, the differences observed are much lower; therefore, this confirms what other authors have suggested regarding the limited usefulness of indexes in populational comparisons. In the Caucasian variation range of pattern types, Basques are located in the high part with regard to arches, in the low part with regard to whorls and radial loops, and in an intermediate part in relation to ulnar loops and overall pattern intensity. Results of the multivariate comparisons show which populations are more or less distant from the Basque population and which variables are significant in contributing to these population relationships.

Dermatoglyphics↗
PubMed2025

Parallel genetic adaptation amid a background of changing effective population sizes in divergent yellow perch (Perca flavescens) populations.

Aquatic ecosystems are highly dynamic environments vulnerable to natural and anthropogenic disturbances. High-economic-value fisheries are one of many ecosystem services affected by these disturbances, and it is critical to accurately characterize the genetic diversity and effective population sizes of valuable fish stocks through time. We used genome-wide data to reconstruct the demographic histories of economically important yellow perch (Perca flavescens) populations. In two isolated and genetically divergent populations, we provide independent evidence for simultaneous increases in effective population sizes over both historic and contemporary time scales including negative genome-wide estimates of Tajima's D, 3.1 times more single nucleotide polymorphisms than adjacent populations, and contemporary effective population sizes that have increased 10- and 47-fold from their minimum, respectively. The excess of segregating sites and negative Tajima's D values probably arose from mutations accompanying historic population expansions with insufficient time for purifying selection, whereas linkage disequilibrium-based estimates of Ne also suggest contemporary increases that may have been driven by reduced fishing pressure or environmental remediation. We also identified parallel, genetic adaptation to reduced visual clarity in the same two habitats. These results suggest that the synchrony of key ecological and evolutionary processes can drive parallel demographic and evolutionary trajectories across independent populations.

Animals↗
PubMed1989

Gene genealogy in three related populations: consistency probability between gene and population trees.

A genealogical relationship among genes at a locus (gene tree) sampled from three related populations was examined with special reference to population relatedness (population tree). A phylogenetically informative event in a gene tree constructed from nucleotide differences consists of interspecific coalescences of genes in each of which two genes sampled from different populations are descended from a common ancestor. The consistency probability between gene and population trees in which they are topologically identical was formulated in terms of interspecific coalescences. It was found that the consistency probability thus derived substantially increases as the sample size of genes increases, unless the divergence time of populations is very long compared to population sizes. Hence, there are cases where large samples at a locus are very useful in inferring a population tree.

Diploidy↗
PubMed1991

'Unique' alleles in admixed populations: a strategy for determining 'hereditary' population differences of disease frequencies.

The genetic contribution of a parental population in an admixed population can be estimated from the frequencies of unique alleles that exist only in that parental population. In this work we show that although the estimated admixture component from a single such unique allele may be quite unstable, when multiple numbers of unique alleles are recognized, they together allow precise estimation of admixture components in an admixed population. We develop a statistical theory of linear regression incorporating estimation errors of frequencies of unique alleles in the parental and admixed populations. In addition, we show that the distribution of unique alleles detected in individuals can be used to measure the admixture component of an admixed individual. Applications of these theories to data on unique African alleles in an American black population show that such estimates are quite reliable. The distribution of unique alleles detected from the multiple-locus genotype of an admixed individual allows an opportunity to extend the studies on the "hereditary" basis of disease risk variation across populations to individuals from a single homogeneous admixed population.

Africa↗
PubMed1985

[Population genetics of taiga hunters-deer breeders. Characteristics of the prevalence of HLA system markers among the native population of Central Siberia].

The postulated peculiarities of distribution of the HLA antigens in the Evenk population of the Central Siberia indicate this population to be, on the whole, Mongoloid. Prolonged isolated existence of small inbred populations of the Evenks resulted in the number of specific HLA-complex features, such as poor antigen diversity, low level of heterozygosity. Non-homogeneity of gene frequencies was noted, the prevailing genes being A9, B40 with frequencies reaching 50%. Of the remaining alleles found in the Evenks A2, Aw19 in A locus, B5, B15, B17, B27, Bw35 in B locus and Cw2, Cw3, Cw4-in C locus are only widely spread. Similar heterozygosis levels and the HLA-system profiles draw the Evenks and the populations of American Indians and Eskimos closer to one another. On the basis of the fact that significant positive correlation exists between genetic and geographic distances determined for the Evenks and the native populations of America, genetic resemblance of these populations may be considered as evidence for their original relationship. Postulated closeness of native Central-Siberian populations to Americanoids, as regards HLA-system, makes it possible to consider formation of specific complex of HLA-system peculiarities in native American population in the light of their Siberian origin, for the first time.

Animal Husbandry↗