Find research datasets worth reusing

Millions of lung tumors harboring KRAS, BRAF, EGFR, and tumor suppressor alterations from genetically engineered mouse models

Tumors acquire alterations in oncogenes and tumor suppressor genes in an adaptive walk through the fitness landscape of tumorigenesis. However, the <a>interactions </a>between oncogenes and tumor suppressor genes that shape this landscape remain poorly resolved and cannot be revealed by human cancer genomics alone. Here, we use a multiplexed, autochthonous mouse platform to model and quantify the initiation and growth of more than one hundred genotypes of lung tumors across four oncogenic contexts: KRAS G12D, KRAS G12C, BRAF V600E, and EGFR L858R. We show that the fitness landscape is rugged—the effect of tumor suppressor inactivation often switches between beneficial and deleterious depending on the oncogenic context—and shows no evidence of diminishing-returns epistasis within variants of the same oncogene. These findings argue against a simple linear signaling relationship amongst these three oncogenes and imply a critical role for off-axis signaling in determining the fitness effects of inactivating tumor suppressors.

opencc-by-4.0Sep 2023View details →

Data for Reserach titled "Exploring Scientific Reasoning and Genetics Self-efficacy as Predictors of Secondary School Students' Achievement in Genetics Concepts"

This dataset is for the research article titled Exploring Scientific Reasoning and Genetics Self-efficacy as Predictors of Secondary School Students’ Achievement in Genetics Concepts. The data were collected using three instruments (Lawson’s Classroom Test of Scientific Reasoning (r = 0.76), adopted from the Lawson's Classroom Test of Scientific Reasoning designed by Lawson in 2000; Self-efficacy in Genetics Concepts Scale (@ = 0.88),adapted from Schwarzer and Jerusalem (1995) General Self Efficacy Scale and Biology Self-Efficacy developed by Baldwin, Ebert-May and Burns (1999); and Students’ Achievement Test in Genetics Concepts (r = 0.78), self-designed by the athors) from 336 Secondary School Two (SS2) biology students selected from nine secondary schools randomly selected from three local government areas in Oyo State. SPSS version 26 was employed as the statitsical software, while data collected were subjected to mean, standard deviation, percentages, ANOVA and Multiple regression analysis at 0.05 level of significance.

Landscape genomics reveals genetic signals of environmental adaptation of African wild eggplant

Crop wild relatives possess desirable traits that confer resilience to various environmental stresses. We applied landscape genomics, that associates environment with genomic variation to understand the genetic basis of their adaptation. In this study, we applied landscape genomics to examine the differences in allele frequency of 15,416 Single Nucleotide Polymorphisms (SNPs) among 153 accessions of wild eggplant relatives from Africa, the principal hotspot of these wild relatives. Further, we explored the correlation between the genetic variations and the bio-climatic and soil conditions at their collection sites. Our results showed that the environment has a greater impact on the genetic variation in the eggplant wild relative populations compared to the geographical distances between collection sites while controlling for population structure. These findings indicate the relevance of the environment in shaping genetic variation in eggplant relatives over time. We detected also candidate SNPs associated with ten environmental factors. Some of these SNPs signal genes involved in pathways that help with adaptation to environmental stresses such as drought, heat, cold, salinity, pests, and diseases.

Data from: the Siam chicken bioresource project: genetic diversity and origin of Thai chicken breeds

Three separate studies have delved into the genetic characteristics, origins, and unique attributes of various chicken breeds in Thailand, providing crucial insights for future breeding programs. The first study focused on Chee Fah and Fah Luang, black-boned chicken breeds in Chiang Rai, Thailand. Despite their economic and cultural significance, little was known about their genetics. Mitochondrial DNA D-loop sequencing and microsatellite genotyping revealed shared genetic heritage with Chinese black-boned chickens, suggesting their origin. Distinct genetic patterns were identified compared to Thai domestic chickens and red junglefowl, indicating crossbreeding and introgression during domestication. Interestingly, the Chee Fah and Fah Luang chickens from different localities exhibited different gene pool structures, possibly influenced by environmental factors like elevation. The second study centered on the Mae Hong Son chicken, a local breed in Northern Thailand. Genetic analyses, including microsatellite markers and mitochondrial D-loop sequencing, unveiled high genetic diversity and unique allelic gene pool patterns. This breed likely originated as a crossbreed between red junglefowl and Thai indigenous village chickens, adapting to local environmental, social, and cultural conditions. The third study examined Lao Pa Koi (LPK) chickens, a popular fighting breed in Thailand. Genetic diversity assessments using microsatellite markers and mitochondrial DNA (mtDNA) D-loop sequences confirmed high variability and genetic admixture between red junglefowl and Thai domestic chickens. Spatial suitability analysis highlighted the importance of elevation in shaping LPK chicken distribution. In conclusion, these studies collectively enhance our understanding of the genetic foundations, origins, and adaptation of diverse chicken breeds in Thailand. This knowledge is crucial for developing effective breeding programs and preserving these valuable genetic resources.

opencc-by-4.0Dec 2018View details →

Fig. S3 in High Genetic Diversity of Amoebae Belonging to the Genus Mayorella (Amoebozoa, Discosea, Dermamoebida) in Natural Habitats

Fig. S3

opencc-by-4.0Dec 2018View details →

Fig. S1 in High Genetic Diversity of Amoebae Belonging to the Genus Mayorella (Amoebozoa, Discosea, Dermamoebida) in Natural Habitats

Fig. S1

Data from: genetic resources of macroalgae: development of an efficient method using microsatellite markers in non-model organisms

Red and brown seaweeds are species with high ecological and economic importance. Here we report the feasibility of cost-effective molecular marker development in 6 species from different clades. Microsatellites markers of two brown seaweed species Alaria esculenta, Pylaiella littoralis, and of four red seaweed species Calliblepharis jubata, Gracilaria gracilis, Gracilaria dura and Palmaria palmata were identified and characterized using genomic sequences of Double-Digest Restriction site Associated DNA (ddRAD). A total of 64,623,186 reads were generated from two runs of multiplexed Illumina Miseq sequencing for which 30,636 reads containing microsatellites and 15,443 microsatellite loci with primers pairs were found. Five hundred seventy-six primers pairs were selected for amplification trials and levels of polymorphism. From the 338 that gave a positive amplification, 142 primers pairs were polymorphic. For genetic analyses two or three populations per species from 13 different geographic locations were used. A total of 28 usable polymorphic markers for A. esculenta, 18 for P. littoralis, 11 for C. jubata, 14 for G. gracilis, 21 for G. dura and 13 for P. palmata were developed. The overall number of alleles per locus ranged from 2 to 22. These 105 new microsatellite markers will be useful for further studies of population genetics, breeding programs and conservation genetics of these species. Compared with traditional approaches, our study yielded thousands of microsatellite loci in a short time with affordable costs in six different species. This study based on ddRAD-sequencing for the development of microsatellite markers provides preliminary data using a few individuals from two distinct populations on the genetic structure and reproduction mode of a non-model species as shown with the detection of clonality for the two red algae, C. jubata and G. dura and the detection of highly genetically divergent populations corresponding probably to different cryptic species under the name of P. littoralis.

Population genomic analyses reveal hybridization and marked differences in genetic structure and demographic history of Scurria limpet sister species with parapatric distributions across the southeastern pacific

The study of sister species that occur in parapatry around biogeographic transition zones can help understand the evolutionary processes that underlie the changes in species composition across biogeographic transition zones. The South Eastern Pacific (SEP) coast is a highly productive coastal system that exhibits a broad biogeographic transition zone around 30–35ºS. Here, we present a comparative genome-wide analysis of the sister species Scurria viridula and Scurria zebrina, that occur in parapatry and whose poleward and equatorward range edges intersect in the 30–35ºS SEP biogeographic transition zone. We sampled 118 specimens sourced from nine sites from Tocopilla (22ºS) to Chiloé (41ºS) including one site where both species overlap and analyzed over 8,000 biallelic single nucleotide polymorphisms. We found evidence of hybridization between these species in the contact zone and found significant but contrasting population structures for both species. Our results indicate that the genetic structure in S. viridula, which is currently expanding its range poleward, follows a simple isolation-by-distance model with no traces of natural selection (no evidence of outlier loci). In contrast, S. zebrina, which finds its equatorward range edge at the transition zone, displayed a pronounced genetic break approximately at 32-34ºS, along a region of marked environmental heterogeneity in association with a semi-permanent coastal upwelling regime. For S. zebrina, we also found 43 outlier loci associated with this genetic break, with a significant proportion of them clustering in a single linkage group. This marked difference in the presence of outlier loci between species suggests that they could be responding differently to local environmental challenges found at their overlapping geographic range edges, thus providing important new insights about genomic changes around biogeographic transition zones in sister species and the forces that shape genetic diversity in intertidal marine species.

Soil composition, phenotypic and genetic data to: Adaptive differentiation on serpentine soil in diploid versus autotetraploid populations of Biscutella laevigata (Brassicaceae)

Serpentine soils exhibit extreme properties (e.g. high magnesium content) influencing plant growth and survival and have been repeatedly documented to promote adaptive edaphic differentiation in plants. Individuals from four pairs of nearby diploid and autotetraploid populations of Biscutella laevigata sampled on serpentine vs non-serpentine soils in a factorial design are used to assess the genetic and phenotypic changes associated with edaphic origin and ploidy level. Individual samples from natural populations were subjected to soil elemental analysis and genotyping using restriction site-associated DNA sequences (RAD-seq) to link genetic variation with contrasting soils and ploidy levels. In diploids, genetic variation was consistent with demographic contraction and a pattern of isolation by environment with respect to the ratio of calcium / magnesium concentrations, whereas tetraploids presented evidence of expansion with limited edaphic differentiation. The genetic basis of tolerance and adaptation to serpentine was further assessed experimentally on seed-grown individuals from all populations subjected to high (serpentine-like) vs low (control) concentrations of magnesium in hydropony. Fitness-related phenotypic traits under experimental cultivation were consistent with adaptive differentiation among diploid ecotypes but not among the tetraploids that similarly grow in both habitats and consistently present higher investment in roots. Further work comparing experimentally resynthesized polyploids to natural diploids and polyploids has to tease the role of whole genome duplication apart from the impact of post-polyploidy evolution.

Genotype data for: Demographic and genetic consequences of a steelhead supplementation program

Supplementation of naturally-spawning populations by the addition of hatchery-spawned individuals is commonly conducted for recovery of threatened and endangered populations and to support harvest opportunities. We present an analysis of steelhead, the anadromous form of Rainbow Trout (Oncorhynchus mykiss), returning to an integrated supplemented population in Southwest Washington over the course of 15 years. The goal of the supplementation program was to evaluate whether use of a juvenile captive broodstock and an integrated paradigm could be used to increase adult returns while avoiding negative genetic impacts to the population. Estimates of relative reproductive success (RRS) for fish spawned in the hatchery ranged from 2.4 for hatchery-origin females to 6.4 for natural-origin males, indicating that fish spawned in the hatchery produced more returning adult progeny than did fish allowed to spawn in the natural environment. We observed a slight reduction in reproductive success (RS) for hatchery-origin (relative to natural-origin) fish when spawning in the natural environment, but the difference was non-significant for males and marginally significant for females. In contrast to the relatively weak relationship between RS and origin (male P = 0.347, η2 = 0.008; female P = 0.066, η2 = 0.037), we observed a strong relationship between RS and return year (male P < 0.001, η2 = 0.896; female P < 0.001, η2 = 0.867) (i.e., hatchery- and natural-origin fish did well or poorly together each year). Hatchery-origin fish exhibited reduced genetic diversity, as well as evidence of increased temporal population structure among hatchery fish. We suspect the latter is an artifact of cultural practices that reduce diversity in age at smoltification. We conclude that the program was successful in achieving an increase in adult return, but not in avoiding negative genetic effects on the population, and that any lasting impacts of supplementation remain to be determined.

opencc-by-4.0Sep 2023View details →

Identifying viral and host genetic determinants of vaccine efficacy

This dataset includes summary statistics results from genetic analyses testing the hypothesis that germline genetic variants are associated with COVID-19 mRNA vaccine efficacy.    These genetic studies include GWAS, HLA-WAS and rare variant gene burden tests.

Reference genome resources associated with the project: Functional genetic diversity is correlated with intensity of genetic drift in populations of an endangered rattlesnake

Theory predicts that genetic erosion in small, isolated populations of endangered species can be assessed using estimates of neutral genetic variation reflecting long-term impacts of genetic drift, yet this widely used approach has been questioned in the genomics era. Here we leverage a chromosome-level assembly and whole genome resequencing data (N=110 individuals) from an endangered rattlesnake (Sistrurus catenatus) to evaluate the relationship between genome-wide neutral and functional diversity over long- and short-term timescales. As predicted for populations at long-term equilibrium, we found a positive correlation between population-level estimates of neutral genetic diversity (π) and the mean number of highly detrimental loss-of-function mutations, and a negative relationship between neutral genetic diversity and an estimate of genetic load. In contrast, we found only a weak, non-significant positive correlation between levels of neutral and adaptive variation. Additional analyses using estimates of drift at more recent time scales (> 100 generations) show expected correlations between both measures of genetic load, but a lack of a significant correlation with levels of adaptive variation. Individual-based demographic metrics that capture drift impacts over recent time scales confirm these results. Broadly, our results confirm that estimates of diversity and demography based on neutral genetic variation provide an accurate measure of a key component of genetic erosion – genetic load – in populations of a threatened vertebrate. Our findings also provide nuance to the neutral-functional diversity controversy by demonstrating that neutral genetic diversity is useful in predicting some, but not all, components of functional genetic diversity.

Data from: Do chromosome rearrangements fix by genetic drift or natural selection? Insights from Brenthis butterflies

Large-scale chromosome rearrangements, such as fissions and fusions, are a common feature of eukaryote evolution. They can have considerable influence on the evolution of populations, yet it remains unclear exactly how rearrangements become established and eventually fix. Rearrangements could fix by genetic drift if they are weakly deleterious or neutral, or they may instead be favoured by positive natural selection. Here we compare genome assemblies of three closely related Brenthis butterfly species and characterise a complex history of fission and fusion rearrangements. An inferred demographic history of these species suggests that rearrangements became fixed in populations with large long-term effective size (Ne). However, we also find large runs of homozygosity within individual genomes and show that a model of population structure with smaller local Ne can reconcile these observations. Using a recently developed analytic framework for characterising hard selective sweeps, we find that chromosome fusions are not enriched for evidence of past sweeps compared to other regions of the genome. Nonetheless, one chromosome fusion in the B. daphne genome is associated with a valley of diversity where genealogical branch lengths are distorted, consistent with a selective sweep. Our results suggest that drift is a stronger force in these populations than suggested by overall genetic diversity, but that the fixation of strongly underdominant rearrangements remains unlikely. Additionally, although chromosome fusions do not typically exhibit signatures of selective sweeps, a single example raises the possibility that natural selection may sometimes play a role in their fixation.

Data from: Revealing biogeographic patterns in genetic diversity of native and invasive plants and their association with soil community diversity in the Chinese coast

Within-species genetic diversity is shaped by multiple evolutionary forces within the confines of geography, and has cascading effects on the biodiversity of other taxa and levels. Invasive species are often initially limited in genetic diversity but still respond rapidly to their new range, possibly through 'pre-adapted' genotypes or multiple sources of genetic diversity, but little is known about how their genetic structure differs from that of native species and how it alters the genetic-species diversity relationship. Here, we selected a widespread native species (Phragmites australis) and its co-occurring invasive competitor (Spartina alterniflora) as our model plant species. We investigated the genetic structure of P. australis using two chloroplast fragments and ten nuclear microsatellites in 13 populations along the Chinese coastal wetlands. We discovered a distinct geographical differentiation, showing that the northern and southern populations harbored unique genotypes. We also found a significant increase in genetic diversity (allelic richness and expected heterozygosity) from south to north. Combined with previous studies of S. alterniflora, the Mantel tests revealed a significant correlation of genetic distances between P. australis and S. alterniflora even when controlling for geographic distance, suggesting that the invasive species S. alterniflora might exhibit a phylogeographic pattern similar to that of the native species to some extent. Furthermore, our results suggest that the S. alterniflora invasion has altered the relationship between the genetic diversity of the dominant native plant and the associated species richness of soil nematodes. The reason for the alteration of genetic-species diversity relationship might be that the biological invasion weakens the environmental impact on both levels of biodiversity. Our findings contribute to understanding the latitudinal patterns of intraspecific genetic diversity in widespread species. This work on the genetic diversity analysis of native species also provides significant implications for the invasion stage and ecological consequences of biological invasions.

opencc-by-4.0Oct 2023View details →

Systems-level analyses dissociate genetic regulators of reactive oxygen species and energy production

Dataset associated with publication "Systems-level analyses dissociate genetic regulators of reactive oxygen species and energy production"

Resource for teaching human genetics at the college level to combat harmful misconceptions

How we teach human genetics matters for social equity. The biology curriculum appears to be a crucial locus of intervention for either reinforcing or undermining students' racial essentialist views. The Mendelian genetic models dominating textbooks, particularly in combination with racially inflected language sometimes used when teaching about monogenic disorders, can increase middle and high school students' racial essentialism and opposition to policies to increase equity. These findings are of particular concern given the increasing spread of racist misinformation online and misappropriation of human genomics research by white supremacists, who take advantage of low levels of genetics literacy in the general public. Encouragingly, however, teaching updated information about the geographic distribution of human genetic variation and the complex, multifactorial basis of most human traits, reduces students' endorsement of racial essentialism. The genetics curriculum is therefore a key tool in combating misinformation and scientific racism. Here, we describe a framework and example teaching materials for teaching students key concepts in genetics, human evolutionary history, and human phenotypic variation at the undergraduate level. This framework can be flexibly applied in biology and anthropology classes and adjusted based on time availability. Our goal is to provide college instructors with varying levels of expertise with a set of evidence-informed tools for teaching human genetics to combat scientific racism, including an evolving set of instructional resources, as well as learning goals and pedagogical approaches instructors can apply when teaching genetics. Additionally, we hope to generate conversation about integrating modern genetics into the undergraduate curriculum, in light of recent findings about the risks and opportunities associated with teaching genetics.

Population genetics of Daphnimorpha species

A climate relict is of particular importance in evolutionary biology because of its long-term survival in the face of climatic oscillations. However, because their current distributions are usually restricted and fragmented, many climatic relicts have extinction risks. Daphnimorpha (Thymelaeaceae) is a Japanese endemic genus that comprises two species (D. capitellata and D. kudoi) showing a disjunct distribution in the southern part of Japan. These two species are endemic to a single mountain range. In this study, we conducted population genetic analyses using genome-wide single nucleotide polymorphism obtained from multiplexed inter-simple sequence repeat genotyping by sequencing to reveal the phylogeographic history and obtain conservation implications for the two species. The results showed these two species may have been isolated since the Tertiary period, indicating that they are climate relicts. In addition, D. kudoi showed clear genetic differentiation between two mountains (Mt. Nagata and Mt. Kuromi), with a decline in effective population sizes during the last glacial period. In contrast, D. capitellata showed no clear intraspecific genetic structure and its effective population size was relatively stable. These differences could be a result of differences in habitat preferences between the species. For conservation, we should manage the two species based on the three evolutionary significant units (ETUs; D. capitellata, D. kudoi population on Mt. Nagata, and D. kudoi population on Mt. Kuromi). Considering the limited gene flows among subpopulations and their small population sizes, all ETUs require conservative attention to maintain or increase their effective population sizes.

Effects of disturbance on genetic diversity in the submersed aquatic plant Vallisneria americana

In summer 2011, Tropical storms Lee and Irene caused an estimated 90% decline of the submersed aquatic plant Vallisneria americana Michx. (Hydrocharitaceae) in the Hudson River, of New York (USA). To understand the genetic impact of such large-scale demographic losses, we compared diversity at 10 microsatellite loci in 135 samples collected from 5 sites just before the storms with 239 shoots collected from 9 sites four years after. Although 80% of beds sampled in 2011 lacked V. americana in 2015, we found similar genotypic and genetic diversity and effective population sizes in pre-storm versus post-storm sites. These similarities suggest that despite local extirpations concentrated at the upstream end of the sampling area, V. americana was regionally resistant to genetic losses. Similar geographically based structure among sites in both sampling periods suggested that cryptic local refugia at previously occupied sites facilitated re-expansion after the storms. However, this apparent resistance to disturbance may lead to a false sense of security. Low effective population sizes and high clonality in both time periods suggest that V. americana beds were already small and had high frequency of asexual reproduction before the storms. Dispersal was not sufficient to recolonize more isolated sites that had been extirpated. Chronic low diversity and reliance on asexual reproduction for persistence can be risky when more frequent and intense storms are paired with ongoing anthropogenic stressors. Monitoring genetic diversity along with extent and abundance of V. americana will give a more complete picture of long-term potential for resilience.