Correction: Global Patterns in Human Mitochondrial DNA and Y-Chromosome Variation Caused by Spatial Instability of the Local Cultural Processes
Ontology highlight
ABSTRACT:
SUBMITTER:
PROVIDER: S-EPMC1484598 | biostudies-literature | 2006 Jun
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:Because of the widespread phenomenon of patrilocality, it is hypothesized that Y-chromosome variants tend to be more localized geographically than those of mitochondrial DNA (mtDNA). Empirical evidence confirmatory to this hypothesis was subsequently provided among certain patrilocal and matrilocal groups of Thailand, which conforms to the isolation by distance mode of gene diffusion. However, we expect intuitively that the patterns of genetic variability may not be consistent with the above hypothesis among populations with different social norms governing the institution of marriage, particularly among those that adhere to strict endogamy rules. We test the universality of this hypothesis by analyzing Y-chromosome and mtDNA data in three different sets of Indian populations that follow endogamy rules to varying degrees. Our analysis of the Indian patrilocal and the matrilocal groups is not confirmatory to the sex-specific variation observed among the tribes of Thailand. Our results indicate spatial instability of the impact of different cultural processes on the genetic variability, resulting in the lack of universality of the hypothesized pattern of greater Y-chromosome variation when compared to that of mtDNA among the patrilocal populations.
| S-EPMC1435684 | biostudies-literature
Project description:In a connected world where people influence each other, what can cause a globalized monoculture, and which measures help to preserve the coexistence of cultures? Previous research has shown that factors such as homophily, population size, geography, mass media, and type of social influence play important roles. In the present paper, we investigate for the first time the impact that institutions have on cultural diversity. In our first three studies, we extend existing agent-based models and explore the effects of institutional influence and agent loyalty. We find that higher institutional influence increases cultural diversity, while individuals' loyalty to their institutions has a small, preserving effect. In three further studies, we test how bottom-up and top-down processes of institutional influence impact our model. We find that bottom-up democratic practices, such as referenda, tend to produce convergence towards homogeneity, while top-down information dissemination practices, such as propaganda, further increase diversity. In our last model--an integration of bottom-up and top-down processes into a feedback loop of information--we find that when democratic processes are rare, the effects of propaganda are amplified, i.e., more diversity emerges; however, when democratic processes are common, they are able to neutralize or reverse this propaganda effect. Importantly, our models allow for control over the full spectrum of diversity, so that a manipulation of our parameters can result in preferred levels of diversity, which will be useful for the study of other factors in the future. We discuss possible mechanisms behind our results, applications, and implications for political and social sciences.
| S-EPMC4825973 | biostudies-literature
Project description:[This corrects the article DOI: 10.1371/journal.pone.0205573.].
| S-EPMC6483247 | biostudies-literature
Project description:Spatial and temporal dissection of the genomic changes occurring during the evolution of human non-small cell lung cancer (NSCLC) may help elucidate the basis for its dismal prognosis. We sequenced 25 spatially distinct regions from seven operable NSCLCs and found evidence of branched evolution, with driver mutations arising before and after subclonal diversification. There was pronounced intratumor heterogeneity in copy number alterations, translocations, and mutations associated with APOBEC cytidine deaminase activity. Despite maintained carcinogen exposure, tumors from smokers showed a relative decrease in smoking-related mutations over time, accompanied by an increase in APOBEC-associated mutations. In tumors from former smokers, genome-doubling occurred within a smoking-signature context before subclonal diversification, which suggested that a long period of tumor latency had preceded clinical detection. The regionally separated driver mutations, coupled with the relentless and heterogeneous nature of the genome instability processes, are likely to confound treatment success in NSCLC.
| S-EPMC4636050 | biostudies-literature
Project description:Mutations in molecules involved in transcription and splicing can cause chromosome instability such as sister chromatid exchanges. We isolated and characterized responsible genes from mammalian temperature-sensitive mutant cells showing chromosome instability. A mutation in the largest subunit of RNA polymerase II affected DNA synthesis in S phase-arrested cells, resulting in abnormal induction of sister chromatid exchanges. The yeast mutant harboring a homologous mutation showed very similar phenotype to that of the mammalian mutant. A mutation in Smu1, which is involved in splicing, also affected DNA synthesis in S and G2 phase-arrested cells, resulting in abnormal induction of sister chromatid exchanges and chromosomal aberrations. These cells showed a connection between defects of RNA metabolism and induction of chromosome instability. Genome instability appeared to be caused by links between RNA metabolism and replication resulting in genomic recombination. RNA metabolism can be regarded as one possible driver of genome modification triggering genome evolution.
| S-EPMC6779378 | biostudies-literature
Project description:The burning of fossil fuels to generate power produces harmful emissions. Lowering such emissions in gas turbine engines is possible by operating them at fuel-lean conditions. However, such strategies often fail because, under fuel-lean conditions, the combustors are prone to catastrophic high-amplitude oscillations known as thermoacoustic instability. We reveal that, as an operating parameter is varied in time, the transition to thermoacoustic instability is initiated at specific spatial regions before it is observed in larger regions of the combustor. We use two indicators to discover such inceptive regions: the growth of variance of fluctuations in spatially resolved heat release rate and its spatiotemporal evolution. In this study, we report experimental evidence of suppression of the global transition to thermoacoustic instability through targeted modification of local dynamics at the inceptive regions. We strategically arrange slots on the flame anchor, which, in turn, reduce the local heat release rate fluctuations at the inceptive regions and thus suppress the global transition to thermoacoustic instability. Our results open new perspectives for combustors that are more environmental-friendly.
| S-EPMC9166721 | biostudies-literature
Project description:Copy number variants (CNVs), duplications and deletions of genomic sequences, contribute to evolutionary adaptation but can also confer deleterious effects and cause disease. Whereas the effects of amplifying individual genes or whole chromosomes (i.e., aneuploidy) have been studied extensively, much less is known about the genetic and functional effects of CNVs of differing sizes and structures. Here, we investigated Saccharomyces cerevisiae (yeast) strains that acquired adaptive CNVs of variable structures and copy numbers following experimental evolution in glutamine-limited chemostats. Although beneficial in the selective environment, CNVs result in decreased fitness compared with the euploid ancestor in rich media. We used transposon mutagenesis to investigate mutational tolerance and genome-wide genetic interactions in CNV strains. We find that CNVs increase mutational target size, confer increased mutational tolerance in amplified essential genes, and result in novel genetic interactions with unlinked genes. We validated a novel genetic interaction between different CNVs and BMH1 that was common to multiple strains. We also analyzed global gene expression and found that transcriptional dosage compensation does not affect most genes amplified by CNVs, although gene-specific transcriptional dosage compensation does occur for ∼12% of amplified genes. Furthermore, we find that CNV strains do not show previously described transcriptional signatures of aneuploidy. Our study reveals the extent to which local and global mutational tolerance is modified by CNVs with implications for genome evolution and CNV-associated diseases, such as cancer.
| S-EPMC10547251 | biostudies-literature
Project description:BackgroundInfluenza is a contagious respiratory disease responsible for annual seasonal epidemics in temperate climates. An understanding of how influenza spreads geographically and temporally within regions could result in improved public health prevention programs. The purpose of this study was to summarize the spatial and temporal spread of influenza using data obtained from the Pennsylvania Department of Health's influenza surveillance system.Methodology and findingsWe evaluated the spatial and temporal patterns of laboratory-confirmed influenza cases in Pennsylvania, United States from six influenza seasons (2003-2009). Using a test of spatial autocorrelation, local clusters of elevated risk were identified in the South Central region of the state. Multivariable logistic regression indicated that lower monthly precipitation levels during the influenza season (OR = 0.52, 95% CI: 0.28, 0.94), fewer residents over age 64 (OR = 0.27, 95% CI: 0.10, 0.73) and fewer residents with more than a high school education (OR = 0.76, 95% CI: 0.61, 0.95) were significantly associated with membership in this cluster. In addition, time series analysis revealed a temporal lag in the peak timing of the influenza B epidemic compared to the influenza A epidemic.ConclusionsThese findings illustrate a distinct spatial cluster of cases in the South Central region of Pennsylvania. Further examination of the regional transmission dynamics within these clusters may be useful in planning public health influenza prevention programs.
| S-EPMC3314628 | biostudies-literature
Project description:SignificanceAlthough most studies of the genetic regulation of genome stability involve an analysis of mutations within the coding sequences of genes required for DNA replication or DNA repair, recent studies in yeast show that reduced levels of wild-type enzymes can also produce a mutator phenotype. By whole-genome sequencing and other methods, we find that reduced levels of the wild-type DNA polymerase ε in yeast greatly increase the rates of mitotic recombination, aneuploidy, and single-base mutations. The observed pattern of genome instability is different from those observed in yeast strains with reduced levels of the other replicative DNA polymerases, Pol α and Pol δ. These observations are relevant to our understanding of cancer and other diseases associated with genetic instability.
| S-EPMC8944251 | biostudies-literature
Project description:DNA replication stress (DRS)-induced genomic instability is an important factor driving cancer development. To understand the mechanisms of DRS-associated genomic instability, we measured the rates of genomic alterations throughout the genome in a yeast strain with lowered expression of the replicative DNA polymerase δ. By a genetic test, we showed that most recombinogenic DNA lesions were introduced during S or G2 phase, presumably as a consequence of broken replication forks. We observed a high rate of chromosome loss, likely reflecting a reduced capacity of the low-polymerase strains to repair double-stranded DNA breaks (DSBs). We also observed a high frequency of deletion events within tandemly repeated genes such as the ribosomal RNA genes. By whole-genome sequencing, we found that low levels of DNA polymerase δ elevated mutation rates, both single-base mutations and small insertions/deletions. Finally, we showed that cells with low levels of DNA polymerase δ tended to accumulate small promoter mutations that increased the expression of this polymerase. These deletions conferred a selective growth advantage to cells, demonstrating that DRS can be one factor driving phenotypic evolution.
| S-EPMC5167146 | biostudies-literature