scholarly journals EXAMINATION OF ALLELIC VARIATION AT THE HEXOKINASE LOCI OF DROSOPHILA PSEUDOOBSCURA AND D. PERSIMILIS BY DIFFERENT METHODS

Genetics ◽  
1977 ◽  
Vol 87 (4) ◽  
pp. 743-761
Author(s):  
Andrew T Beckenbach ◽  
Satya Prakash
Keyword(s):  
Genetic Variation ◽  
Allelic Variation ◽  
Balancing Selection ◽  
Heat Stability ◽  
Relative Activity ◽  
Allelic Frequency ◽  
Drosophila Pseudoobscura ◽  
Urea Denaturation ◽  
Thiol Reagent ◽  
Electrophoretic Techniques

ABSTRACT Recently a number of electrophoretic techniques have been applied to reveal the presence of additional genetic variation among the electrophoretic mobility classes of the highly polymorphic xanthine dehydrogenase (XDH) and esterase-5 (est-5) loci. We examined the hexokinase loci of Drosophila pseudoobscura and D. persimilis using a variety of techniques to determine whether further allelic variation could be revealed for these much less polymorphic loci and to analyze the nature of the known variation at the hexokinase-1 (hex-1) locus. The following studies were conducted: 135 strains of the two species from six localities were examined with buffer pH ranging from 5.5 to 10.0; 40 strains of D. pseudoobscura and 9 strains of D. persimilis from Mather were studied using starch gel concentrations ranging from 8.5 to 15.5% and were examined for differences in heat stability and reactivity to the thiol reagent p CMSA; strains were also tested for susceptibility to urea denaturation and differences in relative activities. Major findings of the work are: (1) No additional allelic variation could be detected at any of the hexokinase loci by applying these techniques. The finding of abundant hidden genetic variation in XDH and est-5 does not extend to all enzyme loci. (2) Evidence from studies using p CMSA indicates that the hex-1 alleles 0.6, 0.8, 1.0 and 1.2 of the two species form a series of unit charge steps. Since the 0.94 allele of D. persimilis has mobility intermediate between 0.8 and 1.0, it is argued that routine electrophoretic techniques are sensitive to at least some conservative amino acid substitutions. (3) Strong correlations were found at the hex-1locus between low allelic frequency, reduced relative activity and reduced stability to heat and urea denaturation. Since the three sibling species, D. pseudoobscura, D. persimilis and D. miranda, all appear to share a common high frequency allele (1.0) at that locus, these findings are taken as evidence that the observed allelic frequencies are a result of directional selection and mutation, rather than any form of balancing selection.

scholarly journals Fitness of allozyme variants in Drosophila pseudoobscura: II. Selection at the Est-5, Odh and Mdh-2 loci

1974 ◽  
Vol 24 (2) ◽  
pp. 137-149 ◽  
Author(s):  
Dragoslav Marinković ◽  
Francisco J. Ayala
Keyword(s):  
Allelic Variation ◽  
Balancing Selection ◽  
Natural Populations ◽  
Superior Performance ◽  
Adult Survival ◽  
Drosophila Pseudoobscura ◽  
Male Mating ◽  
Female Fecundity ◽  
Single Genotype ◽  
Fitness Parameters

SUMMARYWe have studied the effects on fitness of allelic variation at three gene loci (Est-5, Odh, and Mdh-2)coding for enzymes in Drosophila pseudoobscura. Genotype has a significant effect on fitness for all six parameters measured (female fecundity, male mating capacity, egg-to-adult survival under near-optimal and under competitive conditions, and rate of development under near-optimal and under competitive conditions). No single genotype is best for all six fitness parameters; rather, genotypes with superior performance during a certain stage of the life-cycle may have low fitness at some other stage, or in different environmental conditions. Heterozygotes are sometimes best when all fitness parameters are considered. There are significant interactions between loci. The various forms of balancing selection uncovered in our experiments may account for the polymorphisms occurring in natural populations of D. pseudoobscura at the three loci studied.

Heterogeneous Selection at Specific Loci in Natural Environments in Arabidopsis thaliana

Genetics ◽  
2003 ◽  
Vol 165 (1) ◽  
pp. 321-329 ◽  
Author(s):  
Cynthia Weinig ◽  
Lisa A Dorn ◽  
Nolan C Kane ◽  
Zachary M German ◽  
Solveig S Halldorsdottir ◽  
...  
Keyword(s):  
Arabidopsis Thaliana ◽  
Genetic Variation ◽  
Natural Selection ◽  
Rhode Island ◽  
Plant Species ◽  
Allelic Variation ◽  
Balancing Selection ◽  
Wild Plant ◽  
Natural Environments ◽  
Fitness Effects

Abstract Genetic variation for quantitative traits is often greater than that expected to be maintained by mutation in the face of purifying natural selection. One possible explanation for this observed variation is the action of heterogeneous natural selection in the wild. Here we report that selection on quantitative trait loci (QTL) for fitness traits in the model plant species Arabidopsis thaliana differs among natural ecological settings and genetic backgrounds. At one QTL, the allele that enhanced the viability of fall-germinating seedlings in North Carolina reduced the fecundity of spring-germinating seedlings in Rhode Island. Several other QTL experienced strong directional selection, but only in one site and seasonal cohort. Thus, different loci were exposed to selection in different natural environments. Selection on allelic variation also depended upon the genetic background. The allelic fitness effects of two QTL reversed direction depending on the genotype at the other locus. Moreover, alternative alleles at each of these loci caused reversals in the allelic fitness effects of a QTL closely linked to TFL1, a candidate developmental gene displaying nucleotide sequence polymorphism consistent with balancing selection. Thus, both environmental heterogeneity and epistatic selection may maintain genetic variation for fitness in wild plant species.

Genetic Analysis of Chinese Cucumber Collections in the U.S. National Germplasm Collection

HortScience ◽  
1998 ◽  
Vol 33 (3) ◽  
pp. 534e-534 ◽  
Author(s):  
J. Staub ◽  
Felix Sequen ◽  
Tom Horejsi ◽  
Jin Feng Chen
Keyword(s):  
Genetic Diversity ◽  
Principal Component Analysis ◽  
Genetic Variation ◽  
Genetic Analysis ◽  
Allelic Variation ◽  
Germplasm Collection ◽  
Principal Component ◽  
Isozyme Loci ◽  
National Plant Germplasm System ◽  
The U.S

Genetic variation in cucumber accessions from China was assessed by examining variation at 21 polymorphic isozyme loci. Principal component analysis of allelic variation allowed for the depiction of two distinct groupings of Chinese accessions collected in 1994 and 1996 (67 accessions). Six isozyme loci (Gpi, Gr, Mdh-2, Mpi-2, Pep-gl, and Pep-la) were important in elucidating these major groups. These groupings were different from a single grouping of Chinese 146 accessions acquired before 1994. Allelic variation in Chinese accessions allowed for comparisons with other accessions in the U.S. National Plant Germplasm System (U.S. NPGS) collection grouped by continent and sub-continent. When Chinese accessions taken collectively were compared with an array of 853 C. sativus U.S. NPGS accessions examined previously, relationships differed between accessions grouped by country or subcontinent. Data indicate that acquisition of additional Chinese and Indian cucumber accessions would be strategically important for increasing genetic diversity in the U.S. NPGS cucumber collection.

scholarly journals The coalescent process in models with selection, recombination and geographic subdivision

1991 ◽  
Vol 57 (1) ◽  
pp. 83-91 ◽  
Author(s):  
Norman Kaplan ◽  
Richard R. Hudson ◽  
Masaru Iizuka
Keyword(s):  
Genetic Variation ◽  
Population Genetic ◽  
Genetic Model ◽  
Sequence Data ◽  
Balancing Selection ◽  
Similar Model ◽  
Proposed Model ◽  
Coalescent Approach ◽  
Neutral Mutations ◽  
Better Than

SummaryA population genetic model with a single locus at which balancing selection acts and many linked loci at which neutral mutations can occur is analysed using the coalescent approach. The model incorporates geographic subdivision with migration, as well as mutation, recombination, and genetic drift of neutral variation. It is found that geographic subdivision can affect genetic variation even with high rates of migration, providing that selection is strong enough to maintain different allele frequencies at the selected locus. Published sequence data from the alcohol dehydrogenase locus of Drosophila melanogaster are found to fit the proposed model slightly better than a similar model without subdivision.

scholarly journals The molecular through ecological genetics of abnormal abdomen. IV. Components of genetic variation in a natural population of Drosophila mercatorum.

Genetics ◽  
1992 ◽  
Vol 130 (2) ◽  
pp. 355-366
Author(s):  
H Hollocher ◽  
A R Templeton ◽  
R DeSalle ◽  
J S Johnston
Keyword(s):  
Genetic Variation ◽  
Natural Population ◽  
Allelic Variation ◽  
Natural Populations ◽  
Developmental Time ◽  
Ecological Genetics ◽  
Adult Longevity ◽  
Genetic Determinants ◽  
Drosophila Mercatorum ◽  
Y Chromosomes

Abstract Natural populations of Drosophila mercatorum are polymorphic for a phenotypic syndrome known as abnormal abdomen (aa). This syndrome is characterized by a slow-down in egg-to-adult developmental time, retention of juvenile abdominal cuticle in the adult, increased early female fecundity, and decreased adult longevity. Previous studies revealed that the expression of this syndrome in females is controlled by two closely linked X chromosomal elements: the occurrence of an R1 insert in a third or more of the X-linked 28S ribosomal genes (rDNA), and the failure of replicative selection favoring uninserted 28S genes in larval polytene tissues. The expression of this syndrome in males in a laboratory stock was associated with the deletion of the rDNA normally found on the Y chromosome. In this paper we quantify the levels of genetic variation for these three components in a natural population of Drosophila mercatorum found near Kamuela, Hawaii. Extensive variation is found in the natural population for both of the X-linked components. Moreover, there is a significant association between variation in the proportion of R1 inserted 28S genes with allelic variation at the underreplication (ur) locus such that both of the necessary components for aa expression in females tend to cosegregate in the natural population. Accordingly, these two closely linked X chromosomal elements are behaving as a supergene in the natural population. Because of this association, we do not believe the R1 insert to be actively transposing to an appreciable extent. The Y chromosomes extracted from nature are also polymorphic, with 16% of the Ys lacking the Y-specific rDNA marker. The absence of this marker is significantly associated with the expression of aa in males. Hence, all three of the major genetic determinants of the abnormal abdomen syndrome are polymorphic in this natural population.

scholarly journals Negative frequency dependent selection contributes to the maintenance of a global polymorphism in mitochondrial DNA

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Zorana Kurbalija Novičić ◽  
Ahmed Sayadi ◽  
Mihailo Jelić ◽  
Göran Arnqvist
Keyword(s):  
Mitochondrial Dna ◽  
Genetic Variation ◽  
Life History ◽  
Balancing Selection ◽  
Food Resource ◽  
Ecological Processes ◽  
Central Process ◽  
Frequency Dependent ◽  
Frequency Dependent Selection ◽  
Negative Frequency Dependent Selection

Abstract Background Understanding the forces that maintain diversity across a range of scales is at the very heart of biology. Frequency-dependent processes are generally recognized as the most central process for the maintenance of ecological diversity. The same is, however, not generally true for genetic diversity. Negative frequency dependent selection, where rare genotypes have an advantage, is often regarded as a relatively weak force in maintaining genetic variation in life history traits because recombination disassociates alleles across many genes. Yet, many regions of the genome show low rates of recombination and genetic variation in such regions (i.e., supergenes) may in theory be upheld by frequency dependent selection. Results We studied what is essentially a ubiquitous life history supergene (i.e., mitochondrial DNA) in the fruit fly Drosophila subobscura, showing sympatric polymorphism with two main mtDNA genotypes co-occurring in populations world-wide. Using an experimental evolution approach involving manipulations of genotype starting frequencies, we show that negative frequency dependent selection indeed acts to maintain genetic variation in this region. Moreover, the strength of selection was affected by food resource conditions. Conclusions Our work provides novel experimental support for the view that balancing selection through negative frequency dependency acts to maintain genetic variation in life history genes. We suggest that the emergence of negative frequency dependent selection on mtDNA is symptomatic of the fundamental link between ecological processes related to resource use and the maintenance of genetic variation.

scholarly journals Localized Hypermutation is the Major Driver of Meningococcal Genetic Variability during Persistent Asymptomatic Carriage

mBio ◽  
2020 ◽  
Vol 11 (2) ◽  
Author(s):  
Luke R. Green ◽  
Ali A. Al-Rubaiawi ◽  
Mohammad A. R. M. Al-Maeni ◽  
Odile B. Harrison ◽  
Matthew Blades ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Gene Transfer ◽  
Outer Membrane ◽  
Antigenic Variation ◽  
Allelic Variation ◽  
Host Responses ◽  
Content Type ◽  
Type Iv ◽  
Asymptomatic Carriage ◽  
Genes Encoding

ABSTRACT Host persistence of bacteria is facilitated by mutational and recombinatorial processes that counteract loss of genetic variation during transmission and selection from evolving host responses. Genetic variation was investigated during persistent asymptomatic carriage of Neisseria meningitidis. Interrogation of whole-genome sequences for paired isolates from 25 carriers showed that de novo mutations were infrequent, while horizontal gene transfer occurred in 16% of carriers. Examination of multiple isolates per time point enabled separation of sporadic and transient allelic variation from directional variation. A comprehensive comparative analysis of directional allelic variation with hypermutation of simple sequence repeats and hyperrecombination of class 1 type IV pilus genes detected an average of seven events per carrier and 2:1 bias for changes due to localized hypermutation. Directional genetic variation was focused on the outer membrane with 69% of events occurring in genes encoding enzymatic modifiers of surface structures or outer membrane proteins. Multiple carriers exhibited directional and opposed switching of allelic variants of the surface-located Opa proteins that enables continuous expression of these adhesins alongside antigenic variation. A trend for switching from PilC1 to PilC2 expression was detected, indicating selection for specific alterations in the activities of the type IV pilus, whereas phase variation of restriction modification (RM) systems, as well as associated phasevarions, was infrequent. We conclude that asymptomatic meningococcal carriage on mucosal surfaces is facilitated by frequent localized hypermutation and horizontal gene transfer affecting genes encoding surface modifiers such that optimization of adhesive functions occurs alongside escape of immune responses by antigenic variation. IMPORTANCE Many bacterial pathogens coexist with host organisms, rarely causing disease while adapting to host responses. Neisseria meningitidis, a major cause of meningitis and septicemia, is a frequent persistent colonizer of asymptomatic teenagers/young adults. To assess how genetic variation contributes to host persistence, whole-genome sequencing and hypermutable sequence analyses were performed on multiple isolates obtained from students naturally colonized with meningococci. High frequencies of gene transfer were observed, occurring in 16% of carriers and affecting 51% of all nonhypermutable variable genes. Comparative analyses showed that hypermutable sequences were the major mechanism of variation, causing 2-fold more changes in gene function than other mechanisms. Genetic variation was focused on genes affecting the outer membrane, with directional changes in proteins responsible for bacterial adhesion to host surfaces. This comprehensive examination of genetic plasticity in individual hosts provides a significant new platform for rationale design of approaches to prevent the spread of this pathogen.

The potential impact of mining on population genetic variation in the Banded Ironstone Formation endemic Tetratheca erubescens (Elaeocarpaceae)

2019 ◽  
Vol 67 (3) ◽  
pp. 172 ◽  
Author(s):  
Siegfried L. Krauss ◽  
Janet M. Anthony
Keyword(s):  
Genetic Variation ◽  
Population Genetic ◽  
Allelic Variation ◽  
Continuous Distribution ◽  
Genetic Structuring ◽  
Expected Heterozygosity ◽  
Spatial Structuring ◽  
Genetic Clusters ◽  
Population Genetic Variation ◽  
Entire Distribution

Tetratheca erubescens is a narrowly endemic species including ~6300 plants restricted to a 2-km2 distribution on the south Koolyanobbing Range Banded Ironstone Formation (BIF) in Western Australia. A key objective of the present study was to characterise population genetic variation, and its spatial structuring across the entire distribution of T. erubescens, to enable a quantification of genetic variation that may be affected by proposed mining of the BIF. In total, 436 plants (~30 at each of 14 sites) from across the entire distribution were sampled, genotyped and scored for allelic variation at 11 polymorphic microsatellite loci. Fifty-nine alleles were detected (mean alleles per locus=5.36, range 2–10), and observed heterozygosity was low to moderate and typically lower than expected heterozygosity across all loci (mean observed heterozygosity (Ho)=0.41, mean expected heterozygosity (He)=0.48). Given the restricted distribution of T. erubescens, overall genetic structuring was surprisingly strong (overall FST=0.098). A range-wide spatial autocorrelation analysis indicated a significant positive genetic correlation at distances up to 450m, largely corresponding to the scale of more-or-less continuous distribution within each of two geographic clusters. In support, a STRUCTURE analysis identified an optimal number of genetic clusters as K=2, with assignment of individuals to one of two genetic clusters corresponding with the main geographic clusters. The genetic impact of proposed mining on T. erubescens was assessed on the basis of identifying plants within the proposed mine footprint (all plants from 4 of 14 sites). Repeating analyses of genetic variation after removal of these samples, and comparing to the complete dataset adjusted for sample size, resulted in the loss of one (very rare: overall frequency=0.001) allele (i.e. 58 of 59 alleles (98.3%) were recovered). All other parameters of genetic variation (mean Na, Ne, I, Ho, He, F) were unaffected. Consequently, although up to 22% of all plants fall within the mine footprint and, therefore, may be lost, <2% of alleles detected will be lost, and other genetic parameters remained unaffected. Although these results suggest that the proposed mining will result in a negligible impact on the assessed genetic variation and its spatial structuring in T. erubescens, further research on impacts to, and management of, quantitative genetic variation and key population genetic processes is required.

Genetic variation of rs7958311 in P2X7R gene is associated with the susceptibility and disease activity of ankylosing spondylitis

2019 ◽  
Vol 95 (1123) ◽  
pp. 251-257
Author(s):  
Zhipeng Pan ◽  
Xu Zhang ◽  
Yubo Ma ◽  
Shengqian Xu ◽  
Zongwen Shuai ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Ankylosing Spondylitis ◽  
Protective Effect ◽  
Disease Activity ◽  
Allelic Variation ◽  
Activity Index ◽  
Disease Activity Index ◽  
Nucleotide Polymorphisms ◽  
Genotype Frequencies ◽  
Male Patients

ObjectivesTo describe association between the genetic variation of inflammation-associated gene, P2X7R, and ankylosing spondylitis (AS) susceptibility.MethodsFour single nucleotide polymorphisms (SNPs) of P2X7R gene were genotyped in 673 patients with AS and 687 healthy controls. Allele and genotype frequencies and different genetic models were performed to calculate ORs and 95% CIs, the demographic and clinical characteristics of patients were recorded. The data analyses were also conducted by sex.ResultsCompared with controls, genetic variation in rs7958311 but not the other three SNPs was statistically significant in female patients (χ2=6.907, p=0.032). Specifically, the P2X7R gene rs7958311 polymorphism A allele showed a protective effect in AS susceptibility (OR=0.704, p=0.049, pFDR=0.061). In addition, female individuals with GA and/or AA genotypes had a lower risk of having AS compared with those with GG genotype (GA vs GG: OR=0.446, p=0.012, pFDR=0.030; AA vs GG: OR=0.440, p=0.039, pFDR=0.061; GA/AA vs GG: OR=0.445, p=0.009, pFDR=0.030). Furthermore, individuals with A allele (ie, GA/AA vs GG) had a higher disease activity, including Bath Ankylosing Spondylitis Disease Activity Index (overall: Z=− 2.630, p=0.014; male: Z=− 2.243, p=0.025), Schober test (overall: Z=− 3.041, p<0.001; male: Z=− 2.243, p=0.025) and chest expansion (overall: Z=− 3.895, p=0.004; male: Z=− 2.403, p=0.016).ConclusionThe allelic variation of rs7958311 SNP in P2X7R gene may have a protective effect on AS susceptibility in females and is associated with disease activity in male patients.

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