Search results for "MUTATION"
showing 10 items of 2830 documents
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe
2003
The R408W phenylketonuria mutation in Europe has arisen by recurrent mutation in the human phenylalanine hydroxylase (PAH) locus and is associated with two major PAH haplotypes. R408W-2.3 exhibits a west-to-east cline of relative frequency reaching its maximum in the Balto–Slavic region, while R408W-1.8 exhibits an east-to-west cline peaking in Connacht, the most westerly province of Ireland. Spatial autocorrelation analysis has demonstrated that the R408W-2.3 cline, like that of R408W-1.8, is consistent with a pattern likely to have been established by human dispersal. Genetic diversity within wild-type and R408W chromosomes in Europe was assessed through variable number tandem repeat (VNT…
Contribution of Taq polymerase-induced errors to the estimation of RNA virus diversity.
1998
The genetic diversity of a vesicular stomatitis virus population was analysed by RT-PCR, cloning and sequencing of two approximately 500 nucleotide regions of the virus genome. PCR amplifications were performed in parallel experiments with both Taq and Pfu DNA polymerases, and important differences were observed. Between 10 and 22 mutations were detected when virus populations were analysed by Taq amplification (20 clones from each region), whereas amplification of the same samples with Pfu revealed between 0 and 5 mutations. PCR fidelity assays, performed under the same PCR conditions as those used in the population analysis, showed that the Taq error-rate estimate of 0.27 x 10(-4) misinco…
Fitness Trade-Offs Determine the Role of the Molecular Chaperonin GroEL in Buffering Mutations
2015
Molecular chaperones fold many proteins and their mutated versions in a cell and can sometimes buffer the phenotypic effect of mutations that affect protein folding. Unanswered questions about this buffering include the nature of its mechanism, its influence on the genetic variation of a population, the fitness trade-offs constraining this mechanism, and its role in expediting evolution. Answering these questions is fundamental to understand the contribution of buffering to increase genetic variation and ecological diversification. Here, we performed experimental evolution, genome resequencing, and computational analyses to determine the trade-offs and evolutionary trajectories of Escherich…
The transcriptome of Spodoptera exigua larvae exposed to different types of microbes.
2012
We have obtained and characterized the transcriptome of Spodoptera exigua larvae with special emphasis on pathogen-induced genes. In order to obtain a highly representative transcriptome, we have pooled RNA from diverse insect colonies, conditions and tissues. Sequenced cDNA included samples from 3 geographically different colonies. Enrichment of RNA from pathogen-related genes was accomplished by exposing larvae to different pathogenic and non-pathogenic microbial agents such as the bacteria Bacillus thuringiensis, Micrococcus luteus, and Escherichia coli, the yeast Saccharomyces cerevisiae, and the S. exigua nucleopolyhedrovirus (SeMNPV). In addition, to avoid the loss of tissue-specific …
The distribution of fitness effects caused by single-nucleotide substitutions in an RNA virus.
2004
6 pages, 3 figures.-- PMID: 15159545 [PubMed].-- PMCID: PMC420405.-- Supporting information (Table 3: Relevant information about each single-nucleotide substation mutant created) available at: http://www.pnas.org/content/101/22/8396/suppl/DC1
The population genetics and evolutionary epidemiology of RNA viruses.
2004
Key Points The authors discuss the main mechanisms of RNA virus evolution — mutation, recombination, natural selection, genetic drift and migration, and how these interact to shape the genetic structure of populations.The quasispecies model of RNA virus evolution is explained and the question of whether this model provides an accurate description of RNA virus evolution is discussed.Experiments that can be carried out to test the basic principles of evolutionary theory are briefly described. The authors review what such experiments have told us about virus evolution and, more widely, what these experiments have revealed in terms of general evolutionary principles.RNA viruses evolve quickly, …
GENETIC VARIABILITY AND DRIFT LOAD IN POPULATIONS OF AN AQUATIC SNAIL
2004
Population genetic theory predicts that in small populations, random genetic drift will fix and accumulate slightly deleterious mutations, resulting in reduced reproductive output. This genetic load due to random drift (i.e., drift load) can increase the extinction risk of small populations. We studied the relationship between genetic variability (indicator of past population size) and reproductive output in eight isolated, natural populations of the hermaphroditic snail Lymnaea stagnalis. In a common laboratory environment, snails from populations with the lowest genetic variability mature slower and have lower fecundity than snails from genetically more variable populations. This result s…
Predicting the Significance of Necessity
2019
With Necessary Condition Analysis (NCA), a necessity effect is estimated by calculating the amount of empty space in the upper-left corner in a plot with a predictor X and an outcome Y, and recently a method for testing the statistical significance of the necessity effect through permutation has been proposed. In the present simulation study, this method was found to give significant results already with a very weak true population necessity effect, i.e., exhibit high power, unless the sample size is very small. However, in some situations the significance of the necessity effect tends to increase with increased degree of sufficiency, which is paradoxical for a method whose objective is to …
Preliminary insights into the molecular barcoding data of Turraea socotrana (Meliaceae) from Socotra (Yemen)
2020
The relationship of two geographically and ecologically separated populations of Turraea socotrana Styles and F. White (Meliaceae), a vulnerable and scattered shrub from the island of Socotra (Yemen), was explored using preliminary molecular data. The nuclear ribosomal ITS region was used to screen the level of genetic divergence of T. socotrana from ecologically distant localities in comparison to a few other species of Turraea and closely related genera. The individuals from the inland (Diksam) differed from the western coastal ones (Ma’alah) by vegetative characters and by the rbcL gene. This may be due to the fact that the population from Ma’alah grows on lithosoil slopes directly expos…
Correct oligomerization is a prerequisite for insertion of the central molecular domain of staphylococcal α-toxin into the lipid bilayer
1995
Staphylococcal alpha-toxin is a primarily hydrophilic molecule that binds as a monomer to target membranes and then aggregates to form amphiphilic oligomers that represent water-filled transmembrane channels. Current evidence indicates that a region located in the center of the molecule inserts deeply into the bilayer. In the present study, we sought to determine whether membrane insertion was triggered by the oligomerization process, and whether insertion correlated with pore formation. Double mutants of alpha-toxin were prepared in which His-35 was replaced by Arg, and cysteine residues were introduced at positions 69, 130 and 186. Substitution of His-35 with Arg rendered the toxin molecu…