View Notes - Ch 3 - Nature Nurture & Human Diversity from PSYC 101 at UBC. Nature, Nurture & Nature, Human Diversity 100 Oct 6 08 True or False 1) Even complex human traits are determined by a
Different variations in the same gene influence how well different ethnic groups, and people within the same ethnic group, respond to various antipsychotic medications, report NIMH-funded researchers. If confirmed, their findings could one day help clinicians predict which medication is most likely to help a patient, based on his or her genetic makeup.. A medication that works well for one person with schizophrenia often doesnt work well for another. Genetic variations are thought to play a key role in this difference in response. While patients search for the right medications, their illnesses may worsen. Studies such as this one are aimed at discovering how specific gene variations affect patients responses to specific medications, to better match patients to treatments.. The gene containing the variations, RGS4, had been implicated in schizophrenia in previous studies. It makes a protein that is thought to regulate the effects of receptors found on brain cells. The receptors, called ...
Human genetic variation may directly or indirectly influence response to modern antiretroviral therapies for HIV. It is already known that some immunogenetic and other human genetic variations affect the natural history of HIV disease progression where individuals are untreated, but less information is available as to whether these differences are still relevant in the context of HAART. Antiretroviral therapy adds additional opportunities for human genetic contributions to affect variable prognosis--in particular for those genes which influence pharmacokinetics and/or adverse events.
Author Summary Like many primate species, the mating system of humans is considered to be moderately polygynous (i.e., males exhibit a higher variance in reproductive success than females). As a consequence, males are expected to have a lower effective population size (Ne) than females, and the proportion of neutral genetic variation on the X chromosome (relative to the autosomes) should be higher than expected under the assumption of strict neutrality and an equal breeding sex ratio. We test for the effects of polygyny by measuring levels of neutral polymorphism at 40 independent loci on the X chromosome and autosomes in six human populations. To correct for mutation rate heterogeneity among loci, we divide our diversity estimates within human populations by divergence with orangutan at each locus. Consistent with expectations under a model of polygyny, we find elevated levels of X-linked versus autosomal diversity. While it is possible that multiple demographic processes may contribute to the observed
The origin and evolution of "ORFans" (suspected genes without known relatives) remain unclear. Here, we take advantage of a unique opportunity to examine the population diversity of thousands of ORFans, based on a collection of 35 complete genomes of isolates of Escherichia coli and Shigella (which is included phylogenetically within E. coli). As expected from previous studies, ORFans are shorter and AT-richer in sequence than non-ORFans. We find that ORFans often are very narrowly distributed: the most common pattern is for an ORFan to be found in only one genome. We compared within-species population diversity of ORFan genes with those of two control groups of non-ORFan genes. Patterns of population variation suggest that most ORFans are not artifacts, but encode real genes whose protein-coding capacity is conserved, reflecting selection against nonsynonymous mutations. Nevertheless, nonsynonymous nucleotide diversity is higher than for non-ORFans, whereas synonymous diversity is roughly the ...
Background: A molecular process based genotype-to-phenotype map will ultimately enable us to predict how genetic variation among individuals results in phenotypic alterations. Building such a map is, however, far from straightforward. It requires understanding how molecular variation reshapes developmental and metabolic networks, and how the functional state of these networks modifies phenotypes in genotype specific way. We focus on the latter problem by describing genetic variation in transcript levels of genes in the InR/TOR pathway among 72 Drosophila melanogaster genotypes. Results: We observe tight co-variance in transcript levels of genes not known to influence each other through direct transcriptional control. We summarize transcriptome variation with factor analyses, and observe strong co-variance of gene expression within the dFOXO-branch and within the TOR-branch of the pathway. Finally, we investigate whether major axes of transcriptome variation shape phenotypes expected to be influenced
Wright himself believed that values ,0.25 represent very great genetic variation and that an FST of 0.15-0.25 represented great variation. However, about 5% of human variation occurs between populations within continents, therefore FST values between continental groups of humans (or races) of as low as 0.1 (or possibly lower) have been found in some studies, suggesting more moderate levels of genetic variation.[56] Graves (1996) has countered that FST should not be used as a marker of subspecies status, as the statistic is used to measure the degree of differentiation between populations,[56] although see also Wright (1978).[59]. Jeffrey Long and Rick Kittles give a long critique of the application of FST to human populations in their 2003 paper "Human Genetic Diversity and the Nonexistence of Biological Races". They find that the figure of 85% is misleading because it implies that all human populations contain on average 85% of all genetic diversity. They argue the underlying statistical model ...
Past events like fluctuations in population size and post-glacial colonization processes may influence the relative importance of genetic drift, migration and selection when determining the present day patterns of genetic variation. We disentangle how drift, selection and migration shape neutral and adaptive genetic variation in 12 moor frog populations along a 1700 km latitudinal gradient. We studied genetic differentiation and variation at a MHC exon II locus and a set of 18 microsatellites. Using outlier analyses, we identified the MHC II exon 2 (corresponding to the β-2 domain) locus and one microsatellite locus (RCO8640) to be subject to diversifying selection, while five microsatellite loci showed signals of stabilizing selection among populations. STRUCTURE and DAPC analyses on the neutral microsatellites assigned populations to a northern and a southern cluster, reflecting two different post-glacial colonization routes found in previous studies. Genetic variation overall was lower in the
View Notes - 640Lecture0705 from EEOB 640 at Ohio State. TYPES OF GENETIC VARIATION protein variation how do we measure variability structural similarity? how immunology Variation in enzyme
TY - JOUR. T1 - PCSK9 Loss-of-Function Variants, Low-Density Lipoprotein Cholesterol, and Risk of Coronary Heart Disease and Stroke. T2 - Data from 9 Studies of Blacks and Whites. AU - Kent, Shia T.. AU - Rosenson, Robert S.. AU - Avery, Christy L.. AU - Chen, Yii Der I.. AU - Correa, Adolfo. AU - Cummings, Steven R.. AU - Cupples, L. Adrienne. AU - Cushman, Mary. AU - Evans, Daniel S.. AU - Gudnason, Vilmundur. AU - Harris, Tamara B.. AU - Howard, George. AU - Irvin, Marguerite R.. AU - Judd, Suzanne E.. AU - Jukema, J. Wouter. AU - Lange, Leslie. AU - Levitan, Emily B.. AU - Li, Xiaohui. AU - Liu, Yongmei. AU - Post, Wendy S.. AU - Postmus, Iris. AU - Psaty, Bruce M.. AU - Rotter, Jerome I.. AU - Safford, Monika M.. AU - Sitlani, Colleen M.. AU - Smith, Albert V.. AU - Stewart, James D.. AU - Trompet, Stella. AU - Sun, Fangui. AU - Vasan, Ramachandran S.. AU - Woolley, J. Michael. AU - Whitsel, Eric A.. AU - Wiggins, Kerri L.. AU - Wilson, James G.. AU - Muntner, Paul. PY - 2017/8/1. Y1 - ...
TY - JOUR. T1 - A systematic survey of loss-of-function variants in human protein-coding genes. AU - MacArthur, Daniel G.. AU - Balasubramanian, Suganthi. AU - Frankish, Adam. AU - Huang, Ni. AU - Morris, James. AU - Walter, Klaudia. AU - Jostins, Luke. AU - Habegger, Lukas. AU - Pickrell, Joseph K.. AU - Montgomery, Stephen B.. AU - Albers, Cornelis A.. AU - Zhang, Zhengdong. AU - Conrad, Donald F.. AU - Lunter, Gerton. AU - Zheng, Hancheng. AU - Ayub, Qasim. AU - DePristo, Mark A.. AU - Banks, Eric. AU - Hu, Min. AU - Handsaker, Robert E.. AU - Rosenfeld, Jeffrey A.. AU - Fromer, Menachem. AU - Jin, Mike. AU - Mu, Xinmeng Jasmine. AU - Khurana, Ekta. AU - Ye, Kai. AU - Kay, Mike. AU - Saunders, Gary Ian. AU - Suner, Marie Marthe. AU - Hunt, Toby. AU - Barnes, If H A. AU - Amid, Clara. AU - Carvalho-Silva, Denise R.. AU - Bignell, Alexandra H.. AU - Snow, Catherine. AU - Yngvadottir, Bryndis. AU - Bumpstead, Suzannah. AU - Cooper, David N.. AU - Xue, Yali. AU - Romero, Irene Gallego. AU - Wang, ...
The rare orchid, Isotria medeoloides (Pursh) Raf., is a threatened species native to the Eastern United States. The species range extends from Maine to Georgia, with many populations including fewer than 25 individuals. The degree of genetic variation among populations could have important implications for conservation strategies. This study evaluated the level of genetic variation within and among I. medeoloides populations through analysis of microsatellite regions, which contain dinucleotide repeats. The lengths of these regions are highly variable and have high mutation rates, making microsatellites a powerful genetic marker. Genetic variation was assessed at two microsatellite loci among 15 populations and three regions (New England, Virginia and Georgia). In this largely self-pollinating species, the inbreeding coefficient was high (Fis =0.964) indicating a high rate of self-fertilization. Populations in New England harbor the most genetic diversity. Southern populations are monomorphic, or
AFTER the establishment of the field of ecological genetics more than 30 years ago (Clarke 1975) rapid progress in molecular marker development and analysis technology has generated a surge of renewed interest in identification of selective footprints of natural selection in a wide range of species (e.g., Schlötterer 2002). Among numerous research strategies developed to infer the evidence of selection in natural populations at the molecular level (reviewed by Nielsen 2005; Vasemägi and Primmer 2005), associations between environmental variables and molecular marker polymorphisms are commonly taken as strong support for the hypothesis that natural selection maintains single-locus clinal variation (e.g., Eanes 1999; Baines et al. 2004). However, it has often been overlooked that single-locus clines can also be the result of various neutral evolutionary processes, such as hybridization of previously isolated populations, founder events, and migrational patterns, such as spatially restricted gene ...
Estimating KIR Haplotype Frequencies on a Cohort of 10,000 Individuals: A Comprehensive Study on Population Variations, Typing Resolutions, and Reference Haplotypes. . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis universitarias en PDF. Material universiario, documentación y tareas realizadas por universitarios en nuestra biblioteca. Para descargar gratis y para leer online.
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Some people experience more bitterness and less sweetness when drinking alcoholic beverages, and this relates to inherited genes.
NKX3.1 and β-catenin expression variations might be related to macrophage infiltration in tissues consequent to inflammation.Tissues adjacent to the sections w
Scientists use cancer biomarkers to predict a patients risk of developing cancer, their prognosis and response to therapy and their chance of disease recurrence. A biomarker could be a genetic mutation, the presence of a particular protein or an inherited genetic variation. Moffitt researchers focused their attention on inherited genetic variations in genes called interleukins. They genotyped the DNA of 33 interleukin genes from 651 NSCLC patients. "Interleukins have important roles in regulating cell growth, cell death and in the activation of the immune system," explained Matthew Schabath, Ph.D., assistant member of the Cancer Epidemiology Program at Moffitt. "Inherited genetic variations in interleukins and other genes can change their function and promote cancer development or control a patients response to therapy." The researchers discovered that patients who had certain genetic variations in interleukin genes had a better response to either surgery or chemotherapy, resulting in ...
The nature of standing genetic variation and its relation to phenotypic variation in plants affects our understanding of evolution (1), sustainable agriculture, and preservation of inter- and intraspecific variation in times of environmental change. Maize inbred lines have an average nucleotide diversity in genic regions around 1% (π = 1 to 1.4%) (2, 3), similar to the divergence between humans and chimpanzees (4). It is not uncommon to find maize haplotypes that are 5% divergent from one another (5), which indicates that the maize gene pool reaches back 2 to 4 million years (with one generation per year).. Maize is adapted to a range of environments from the lowland tropics to the Andean highlands and has been widely introduced worldwide into both temperate and tropical regions. Maizes genetic architecture for flowering time has evolved as its wild relatives adapted to distinct ecological zones in elevations differing by more than 3000 m in Mexico and then under both natural and artificial ...
Habitat fragmentation threatens the maintenance of genetic diversity of affected populations. Assessment of the risks associated with habitat fragmentation is a big challenge as the change in population genetic diversity is a dynamic process, often acting over long time periods and depending on various characteristics pertaining to both species (life history traits) and their populations (extrinsic characteristics). With this survey, we provide an introductory overview for persons who have to make or are interested in making predictions about the fate of forest-dwelling plant populations which have recently become fragmented and isolated from their main occurrences. We provide a concise introduction to the field of population genetics focusing on terms, processes and phenomena relevant to the maintenance of genetic diversity and vitality of plant populations. In particular the antagonistic effects of gene flow and random genetic drift are covered. A special chapter is devoted to Central European tree
Some genetic variations may affect our health by altering how DNA coils and interacts in its 3-D shape - Highlight https://debuglies.com
Genetic variations may hold clues to rheumatoid arthritis -- suggesting not only who will develop the condition, but also predicting its severity and a patients mortality risk.
These results illustrate the highly dynamic pattern of CGV across three different environmental conditions that can be evoked by a stress response over a relatively short time-span (2 h) and that CGV is mainly determined by response related trans regulatory eQTL.
The identification and characterization of functional genetic variation is essential for future advances in molecular diagnostics, pharmacogenomics, and personalized medicine. Recent attempts at identifying nucleotide level variation (somatic mutations and single nucleotide polymorphisms [SNPs]) on a genomic scale have linked variation to gene expression, however fail to provide mechanisms for how variation can affect protein function. Herein I have identified nucleotide variation that affects the activity of two proto-oncogenes, MYC (c-Myc) and MYB (c-Myb), and characterized the role this variation plays in oncogenesis and cell differentiation. Burkitts Lymphomas (BLs) acquire consistent point mutations in a conserved Myc Box I domain. In Chapter 2, I report that the enhanced transforming activity of BL-associated MYC mutants can be uncoupled from loss of phosphorylation and increased protein stability. Furthermore, two different BL-associated MYC mutations induced similar gene expression ...
Professor Louis Bernatchez - Institut de Biologie Intégrative et des Systèmes (IBIS), Université Laval, Québec; Canada Research Chair in Genetic Management of Freshwater Species. Species across the globe are experiencing drastic changes in environmental conditions as a result of human activities. Understanding and predicting how organisms respond to human-driven environmental change is therefore a major concern.
According to current research, the African continent is the ancestral home of modern humans. Scientists studying patterns in human genetic variation have observed the greatest amount of human genetic diversity in African populations. Genetic variation outside of Africa-in Europe and Asia-includes some, but not all, of the genetic variation found in Africa, which suggests that between 140,000 and 290,000 years ago, Homo sapiens migrated out of Africa to colonize Europe, Asia and the Americas. This Out of Africa theory is supported by studies of mtDNA, the Y chromosome, portions of the X chromosome, and some but not all autosomal (non-sex determining) regions, as well as the archaeological record. The role of genetics in human variation had to evolve before the "Out of Africa" theory of ancestry could be fully understood. Perhaps the most significant scientific development in helping to further understand human biological variation was the discovery of genes and the growth of genetic research. In ...
A study carried out by dozens of scientists, and published in Nature Genetics, identified 15 new genetic markers that can increase the risk of breast cancer. Each of these genetic variations, identified through this study and other research, is known to raise a womans risk of breast cancer by a small amount. Its another step towards a better understanding of how genetic variations work to increase the risk of this type of cancer. ...
Proceedings of the World Congress on Genetics Applied to Livestock Production, Volume Genetic improvement programmes: Selection using molecular information - Lecture Sessions, , 0944, ...
The blobs are constructed and arranged so that the average distance between two points (individuals) within the same cluster is almost as big as the average distance between two points (individuals) in different clusters. This is easy to achieve if the ellipsoids are big and flat (like pancakes) and placed close to each other along the flat directions. The figure is meant to show how one can have small Fst, as in humans, yet easily resolved clusters. The direction in which the gap between the clusters appears is one of the principal components in the space of human genetic variation, as recently found by bioinformaticists. The figure at the top of this post plots individuals as points in the space generated by the two largest principal components extracted from the combination of data from HapMap and from large statistics sampling of Europeans. Exhibited this way, isolated clusters ("races") are readily apparent ...
TY - JOUR. T1 - Genetic variation and neurological disease. AU - Rosenberg, Roger N.. PY - 1980. Y1 - 1980. N2 - Genetic mutants inevitably affect enzyme structure or modify protein metabolism. In some cases a single genetic defect can give rise to a neurological syndrome, but in most cases the genetic basis of neurological disease is far more complex. In this review Roger Rosenberg examines the rapid progress which is being made in identifying the patterns of genetic variation which underlie these problems, and their effective treatment.. AB - Genetic mutants inevitably affect enzyme structure or modify protein metabolism. In some cases a single genetic defect can give rise to a neurological syndrome, but in most cases the genetic basis of neurological disease is far more complex. In this review Roger Rosenberg examines the rapid progress which is being made in identifying the patterns of genetic variation which underlie these problems, and their effective treatment.. UR - ...
Leprosy continues to remain a major health problem in many parts of the world, regardless of long history of research, advances in the medical field and the introduction of Multidrug therapy (MDT) in 1980s. The inability to grow the bacterium in vitro has been one of the inadequacies to unravel the intricacies of the biology of the disease. Yet efforts have been made to identify the role of host genetic factors to understand susceptibility mechanisms, especially in the background of limited genetic diversity between different isolates of M. leprae. Research has progressed over the years in identifying many candidates as risk providers, using genome wide linkage, association and candidate gene studies. However, search for common genetic variants across the afflicted population groups in the world has emerged equivocal. Looking for genes and its variants which are proposed either by genome wide linkage or association studies with an assumed importance in the pathway biology of the disease does ...
Scientists have identified and created a map of more than 400,000 insertions and deletions (INDELs) in the human genome that signal a little-explored type of genetic difference among individuals. INDELS are an alternative form of natural genetic variation that differs from the much-studied single nucleotide polymorphisms (SNPs). Both types of variation are likely to have a major impact on human health and susceptibility to disease.
abstract = {Understanding the relationship between genetic variation and gene expression is a central question in genetics. With the availability of data from high-throughput technologies such as ChIP-Chip, expression, and genotyping arrays, we can begin to not only identify associations but to understand how genetic variations perturb the underlying transcription regulatory networks to induce differential gene expression. In this study, we describe a simple model of transcription regulation where the expression of a gene is completely characterized by two properties: the concentrations and promoter affinities of active transcription factors. We devise a method that extends Network Component Analysis (NCA) to determine how genetic variations in the form of single nucleotide polymorphisms (SNPs) perturb these two properties. Applying our method to a segregating population of Saccharomyces cerevisiae, we found statistically significant examples of trans-acting SNPs located in regulatory hotspots ...
Click to launch & play an online audio visual presentation by Prof. Gholson Lyon on Human genetic variation and the genotype-phenotype problem 1, part of a collection of online lectures.
If genetics were simple and our understanding of it were complete, companies could provide accurate reports that say "based on your genotype, your age and personal history, you have a 7.42% chance of developing ovarian cancer in the next 10 years". However, we are far, far, far away from this. We have an incomplete catalog of human genetic variation; known genetic variation can explain only a small fraction of the heritable component of most phenotypes of interest; we have a poor understanding of how different genetic variants interact to affect disease risk or other phenotypes; and we have essentially no capacity to incorporate environmental effects into predictive models. In many cases current, incomplete, data may point to someone having an elevated risk of some disease, when they really have a lower than average risk. And, to top it all off, there are very few cases where knowing your risk status or other phenotype points to genotype-specific actions (with the BRCA status referred to in the ...
The 2018 Gordon Research Seminar on Human Genetic Variation and Disease (GRS) will be held in Biddeford, ME. Apply today to reserve your spot.
Definition of non-additive genetic variance in the Legal Dictionary - by Free online English dictionary and encyclopedia. What is non-additive genetic variance? Meaning of non-additive genetic variance as a legal term. What does non-additive genetic variance mean in law?
Levels of divergence with respect to M. caroli were consistently ∼3% (Table 2), similar to previous observations (She et al. 1990). Average divergence between M. musculus or M. domesticus and M. spretus (∼1%) was also consistent with previous estimates (Nachman 1997). The average pairwise divergence (k) between alleles from M. musculus and alleles from M. domesticus was 0.43%. We can use this value to estimate the time of separation of these species. Under a neutral model, k = 2μt + 3Neμ for X-linked loci, where μ is the neutral mutation rate, t is the species divergence time in generations, and Ne is the effective population size of the ancestral population. We can estimate the ancestral value of 3Neμ as the average of current nucleotide diversity in M. musculus and M. domesticus [π = 3Neμ = (0.0003 + 0.0007)/2 = 0.0005]. Assuming a neutral mutation rate of 4 × 10−9 (Waterston et al. 2002), this leads to an estimate of t = (k − 3Neμ)/2μ = (0.0043 − 0.0005)/(8 × 10−9) = ...
The role of host genetic variation in determining susceptibility to complex disease traits is the subject of much research effort, but it often remains unclear whether disease-associated genetic polymorphisms are themselves functionally relevant or acting only as markers within an extended haplotype. Experimental approaches to investigate the functional impact of polymorphisms in non-coding regulatory DNA sequences for gene expression are discussed, including the role of gel-shift assays, DNA footprinting and reporter gene analysis. The limitations of different experimental approaches are presented together with future prospects for in vivo analysis. The strategic application of these functional approaches is discussed and illustrated by analysis of the role of genetic variation in the tumour necrosis factor promoter region in determining susceptibility to severe malaria.. ...
Recurrence relations are derived for the natural selection of a selective coefficient that is subject to additive genetic variations. Mathematical models are set up of the natural selection of the selective coefficient of the heterozygote. A general computer model of genetical populations is described and populations are set up to simulate genetic variation of the heterozygote. The theoretical models are applied to the spread of a gene under natural selection. If the heterozygote is initially intermediate between the two homozygotes, the evolution of semi-dominance, dominance or over-dominance depends on the genetic variance in fitness. Over-dominance evolves if the standard deviation in fitness due to genetic causes is about 0.7 times the difference between the initial heterozygote and homozygote fitnesses. The heterozygote will then continue to increase in fitness until the characters that determine the fitness are at their optimum values. Thus the polymorphism tends to become more stable. The ...
The recent revolution in genomic sequencing has created new opportunities for exploring the connection between genomic variation and biological traits. By sequencing multiple individual genomes within a species, it is possible to identify genomic regions of divergence between groups of individuals sharing particular phenotypic traits. Such a strategy have in the literature been successfully applied for studies of parallel evolution, but none of these earlier studies have made the underlying methodology or tools readily accessible. It is therefore difficult to reproduce their. results or to reuse the methodology for new investigations.. I here present an open tool for doing such analyses between two groups of genomic sequences. One method calculates a cluster separation. score based on a two-dimensional scaling of the pairwise differences between individuals of the population. The other method uses the Fishers exact test score for each single-nucleotide polymorphism found. The tools reproduce ...
Our lab is focused on understanding the role of genetic variation on disease outcomes. We employ quantitative and functional tools, in a variety of model organisms, to study how genetic variation impacts basic cellular traits important to human health. Our work in model organisms will help to model and inform studies of genetic variation in the human population. We hope to identify variation in the human population that can lead to more precise, personalized therapies. The response to endoplasmic reticulum (ER) stress is a basic cellular pathway and is an important component to a variety of diseases. The ER is a large organelle responsible for the synthesis, maturation, and delivery of proteins essential for cellular function. ER stress occurs when misfolded proteins accumulate in the ER lumen and if left unresolved, results in cell death. The cell responds to ER stress with the conserved "unfolded protein response" (UPR). The UPR returns the ER to homeostasis by attenuating protein synthesis, ...
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A genetic variation is a change in the nucleotide sequence of a gene, and when it occurs, it affects that genes capability of producing proteins it codes for. Genetic testing, therefore, analyzes the changes in chromosomes, genes, proteins, or their metabolites. When doing a personal DNA analysis, we analyze more than 100 sites (loci) of your DNA. At a specific site of your DNA, nucleotide C can be replaced by T. Because we have two copies of each gene, the genetic variation can occur in one copy, both of them, or none at all. This type of variation, at a specific DNA site, is called the genotype. Therefore, we have three possible genotypes: CC, CT or TT, and they are one of the most important factors which make people different!. There are many home DNA tests on the market, but not all of them are worth their money. You have to make sure that their promises and results are backed with real science, certified methods and labs, and ironclad security. While there is no direct danger to you, ...
New genome sequencing technologies are releasing a flood of sequence variants in which disease-causing mutations must be distinguished from neutral variants. This distinction is critical to identifyi…
Comprising 50%-75% of the worlds fauna, insects are a prominent part of biodiversity in communities and ecosystems globally. Biodiversity across all levels of biological classifications is fundamentally based on genetic diversity. However, the integration of genomics and phylogenetics into conservation management may not be as rapid as climate change. The genetics of hybrid introgression as a source of novel variation for ecological divergence and evolutionary speciation (and resilience) may generate adaptive potential and diversity fast enough to respond to locally-altered environmental conditions. Major plant and herbivore hybrid zones with associated communities deserve conservation consideration. This review addresses functional genetics across multi-trophic-level interactions including
A common genetic variation may be more significant than obesityas an indicator that a person is at risk of developing type 2 diabetes, according to a team of UK researchers. The team found that people with two copies of the mutant TCF7L2 gene were twice as likely to develop type 2 diabetes as people with no copies. The researchers tracked the cases of 2,676 European middle-aged men who have been evaluated over a period …
underlie how genetic variation in the serotonin transporter gene, a key gene that regulates mood and stress responses, can influence the way we respond to perceived threat.
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Author Summary Viral loads of Human Immunodeficiency Virus infections are correlated between the donor and the recipient of the transmission pair. Similarly, human genetic factors may modulate viral load. In this study we estimate the extents to which viral load is heritable either via the viral genotype (from donor to recipient) or via the hosts Human Leukocyte Antigen (HLA) genotype. We find that a major fraction of inter individual variability is explained by the similarity of the viral genotypes, and that human genetic variation in the HLA region provide little additional explanatory power.
We evaluated the fraction of variation in HIV-1 set point viral load attributable to viral or human genetic factors by using joint host/pathogen genetic data from 541 HIV infected individuals. We show that viral genetic diversity explains 29% of the variation in viral load while host factors explain 8.4%. Using a joint model including both host and viral effects, we estimate a total of 30% heritability, indicating that most of the host effects are reflected in viral sequence variation.. ...
This article reviews the arguments in the separate schools debate in an attempt to present a view of the matter which would be acceptable in a liberal democracy. Although the case ...
Launching microsatellites: a review of mutation processes and methods of phylogenetic inference. Genetic variation detected by microsatellites if five Spanish dog breeds
Major depression is a serious psychiatric disorder impacting the lives of millions of Americans. The gene DISC1 has been linked to this disorder by translocatio...
In a massive study on genetic variation among humans, researchers found that most changes occurred in the last 200 generations, too fast for natural selection to catch up. Recent papers show that rare genetic variations have a more drastic effect than previously believed. Another result shows that ...
Background: Human immunodeficiency viruses (HIV) are characterized by extremely high genetic variability. This extensive heterogeneity resulted from high error rate of re..
Traditional PCR methods can be used for viral diagnosis, however they are required to be highly sensitivity, specific and reproducible for this use. These criteria are largely dependent on the complementarity of the target nucleic acid to the primers and probe used in the PCR reaction. The primers and probe are designed to bind to a highly conserved genomic region and maximise the match. The presence of a mismatch reduces the amplification efficiency and sensitivity. Unfortunately, viruses have high genetic variability which makes it substantially more challenging to locate regions that are conserved in all subtypes of a particular virus.. A recent paper, published in Scientific Reports, investigated the development of a simpler qPCR method that is able to tolerate the presence of mismatches. The authors describe a method that is mediated by a high-fidelity DNA polymerase and uses a primer and a fluorescent primer (called a HFman probe).. ...
Frequency variation in a resonant zero voltage switching (ZVS) power converter is combined with supplemental duty cycle modulation to obtain voltage regulation and to narrow the required frequency band needed for regulation of a given output load. These two regulation processes are applied simultaneously to the power switch control in order to accommodate a wider range of regulated load. Hence in the alternative, for a given load range a smaller frequency range is needed than would be the case if frequency variation alone is used. The regulation control circuit includes both a duty cycle modulator and a frequency modulator each being responsive to an error signal responsive to a differential between an output voltage of the converter and a reference voltage. Each individual modulator has its own transfer function; one transfer function being kHz/volt the other transfer function being % duty cycle/volt. The regulation control circuit output is a rectangular pulse type signal that contains both elements
Vanadium(iv) complexes have recently shown record quantum spin coherence times that in several circumstances are limited by spin-lattice relaxation. The role of the environment and vibronic properties in the low temperature dynamics is here investigated by a comparative study of the magnetization dynamics as Molecular Spintronics : The role of Coordination Chemistry
For whole genome sequencing data, SNPs dominate, but there is typically an appreciable number of insertion (Ins) and deletion (Del) mutations, as well as Other variant types. These other variants include anything that doesnt fall into the previous categories. For example, consider the case where the reference sequence is ACTG, and sometimes the A is mutated into a C, but whenever it is, the T is always deleted. Rather than these two mutations appearing separately in the VCF file, since they are only ever observed together, the reference will be ACTG, and the alternate will be CCG (the A mutated to C, and the T deleted). This mutation is a combination of a SNP and a deletion, and is listed as a complex variant type and will appear in the Other category ...
For whole genome sequencing data, SNPs dominate, but there is typically an appreciable number of insertion (Ins) and deletion (Del) mutations, as well as Other variant types. These other variants include anything that doesnt fall into the previous categories. For example, consider the case where the reference sequence is ACTG, and sometimes the A is mutated into a C, but whenever it is, the T is always deleted. Rather than these two mutations appearing separately in the VCF file, since they are only ever observed together, the reference will be ACTG, and the alternate will be CCG (the A mutated to C, and the T deleted). This mutation is a combination of a SNP and a deletion, and is listed as a complex variant type and will appear in the Other category ...
Natural selection weeds out highly deleterious mutations from a population. Thus, the genetic changes with the biggest impact on disease risk tend to occur infrequently. GWAS chips only capture SNPs found in at least a few percent of the population and thus miss rare variants-precisely those that may offer the most exciting biological insights. Some scientists even believe that these neglected rare variants explain much of the "missing heritability" of complex diseases.. "Its not clear how much of the inter-individual variability in risk for disease is driven by rare variation," Cox says. "But when we can find that variation-really rare stuff with big effects-it often gives us a disproportionate understanding of the biology.". To find rare variants, scientists must compare entire gene sequences between cases and controls. In the past, this has meant looking at only a handful of genes at once. But with the advent of next-generation sequencing, scientists are beginning to look for rare variants ...
With the expanding use of next-gen sequencing (NGS) to diagnose the thousands of rare Mendelian genetic diseases, it is critical to be able to interpret individual DNA variation. To calculate the significance of finding a rare protein-altering variant in a given gene, one must know the frequency of seeing a variant in the general population that is at least as damaging as the variant in question. We developed a general method to better interpret the likelihood that a rare variant is disease causing if observed in a given gene or genic region mapping to a described protein domain, using genome-wide information from a large control sample. Based on data from 2504 individuals in the 1000 Genomes Project dataset, we calculated the number of individuals who have a rare variant in a given gene for numerous filtering threshold scenarios, which may be used for calculating the significance of an observed rare variant being causal for disease. Additionally, we calculated mutational burden data on the number of
How is it best to measure, describe and quantify differences between individual DNA sequences? How does sequence variation affect biological processes? How can we use it to understand and influence human disease? All these questions pose complex analytical challenges, with direct impact on medical research.. Human genetics is as ancient as human history. Its computational foundations are intertwined with the most fundamental developments in statistics. Such quantifications reveal the tremendous degree to which medical traits are heritable, and motivate a large research community to investigate the interconnections between gene variants (genotypes) and observed traits (phenotypes). The third millennium finds genetics more flourishing than ever with high throughput technologies generating large scale data sets, yet with more need than ever of computational innovation and methods to process these data into meaningful biomedical insights. The upcoming era, of complete genotype information available ...
1. Roddy Walsh, Kate L. Thomson, James S. Ware, Birgit H. Funke, Jessica Woodley, Karen J. McGuire, Francesco Mazzarotto, Edward Blair, Anneke Seller, Jenny C. Taylor, Eric V. Minikel, Exome Aggregation Consortium, Daniel G. MacArthur, Martin Farrall, Stuart A. Cook and Hugh Watkins. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2016 doi:10.1038/gim.2016.90.. 2. Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med. 2014 Aug;16(8):601-8. ...
Health,...Findings should lead to deeper understanding of the disease experts s...MONDAY March 30 (HealthDay News) -- U.S. researchers say theyve spo...The same team also confirmed previously identified associations betwee...The newly identified genetic variations are located on chromosomes 1 a...,Scientists,Identify,More,Breast,Cancer,Genes,medicine,medical news today,latest medical news,medical newsletters,current medical news,latest medicine news
1. Roddy Walsh, Kate L. Thomson, James S. Ware, Birgit H. Funke, Jessica Woodley, Karen J. McGuire, Francesco Mazzarotto, Edward Blair, Anneke Seller, Jenny C. Taylor, Eric V. Minikel, Exome Aggregation Consortium, Daniel G. MacArthur, Martin Farrall, Stuart A. Cook and Hugh Watkins. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2016 doi:10.1038/gim.2016.90.. 2. Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med. 2014 Aug;16(8):601-8. ...
Genotypes are discrete, phenotypes often arent. A genetic variant typically has several genotypes. The example variant from the previous paragraph with the two alleles G and T will, in a diploid organism like humans, have three genotypes: G/G, G/T and T/T. It may therefore be tempting to assume that genetic variants are great biomarkers, as they will unambiguously show if the trait associated with the variant is present or not, maybe with heterozygotes being something in between. Unfortunately, this is often not the case, especially for complex diseases that have many variants associated with them. Each of these variants contributes to disease risk only a little bit, and as a result, individual variants arent very informative. ...
-We are using the single genome sequencing (SGS) technology we developed previously to analyze and understand the accumulation of genetic variation in gag/pol a...
Interplay between HIV-1 and Host Genetic Variation: A Snapshot into Its Impact on AIDS and Therapy Response. . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis universitarias en PDF. Material universiario, documentación y tareas realizadas por universitarios en nuestra biblioteca. Para descargar gratis y para leer online.
Some people with a genetic variation in the CCR5 receptors of their immune cells are resistant to HIV, but a theory that the mutation was caused 800 years ...
Genetic variation in healthy oldest-old. PLoS One. 2009; 4(8):e6641. Halaschek-Wiener J, Amirabbasi-Beik M, Monfared N, Pieczyk M, Sailer C, Kollar A, Thomas R, Agalaridis G, Yamada S, Oliveira L, Collins JA, Meneilly G, Marra MA, Madden KM, Le ND, Connors JM, Brooks-Wilson AR.
At the National Cancer Institute (NCI), scientists have generated a data set of cancer-specific genetic variations and are making these data available to the research community.
Variobox 1.4.6 :: DESCRIPTION Variobox is a desktop tool for the annotation, analysis and comparison of human genes. Variant annotation data are obtained from WAVe, protein metadata annotations are gathered from PDB
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Bu protokolün amacı, insan hastalıkları ile ilişkili nadir gen varyantlarının fonksiyonel sonuçlarını değerlendirmek için...
Double helix: The DNA looks like a long twisted ladder. The sides of the ladders are composed of phosphates and sugars. Base pairs: The rungs of the ladder are composed of four bases in pairs that specify genetic instructions - adesine (A), thymine (T), guanine (G) and cytosine (C). A always pairs with T, and G always pairs with C.. Locus: The location of a particular gene or DNA sequence on a chromosome.. Allele: the alternative form of a gene or DNA sequence that occurs at a given locus. Some loci have only one allele, some have two, and some have many alternative forms. Alleles occur in pairs, one on each chromosome.. For a more in-depth explanation of genetics and patterns of human variation, read Human Genetic Variation: The Mechanisms and Results of Microevolution by geneticist Jeffrey C. Long.. ...
Quantitative genetic variability maintained by mutation-stabilizing selection balance: sampling variation and response to subsequent directional selection - Volume 54 Issue 1 - Peter D. Keightley, William G. Hill
Histogram representation of your phenotype Unfortunately your phenotype was not significantly associated with genetic variation present in the C. elegans population. This could be due to noisy trait data - have you performed heritability analysis for your phenotype using our heritability strain panel? If you have and the heritability was found to be high for this trait, the trait might not have reached statistical significance because it is highly complex and more strains need to be phenotyped.. If you have phenotyped the entire 152 wild-isolate collection, you can patiently wait for more isolates to be added to the collection, or generate an F2 recombinant inbred line (RIL) panel generated between strains with high and low phenotypes.. ...
For this graph, the authors have isolated all exons of the human genome and conceptually centered them at the X-axis midline. Then across the local region, (X-axis in centimorgans, a unit of genetic distance), they graph on the Y-axis the diversity of the populations they have sampled. This tends to be lower in highly conserved areas like exons and higher in outlying areas. This diversity is normalized to (divided by) the difference between the canonical human genome and the sequence of rhesus monkey, which should in principle cancel out the variations due to conservation of protein-coding genes and other typically conserved elements. Note that the diversity of the African population samples (green) is substantially higher than that of the European (orange) or Asian (purple) population samples. The authors argue that the central troughs are signs of specific directional selection that has affected the human linage differentially from the normal maintenance or purifying selection that would have ...
Ghorepani Poonhill trekking is a short & beautiful trek in the stunning Annapurna Region. The trek explores cultural and natural diversity of the region.
The diversity of all organisms (microbes, algae, fungi, protists, plants and animals) is analysed by family from the Ediacaran (V) onwards. Maximum estimates are shown in lighter colours, minima in darker. Recolonisation of the seas climaxed in the Ordovician, after which the number of new families appearing was counterbalanced by the number of extinctions. Following the crisis at the end of the Permian diversity increased again sharply towards present-day levels. Recolonisation of the land lagged behind that of the seas and first climaxed in the Carboniferous, after which it leveled off and stayed roughly constant until the Jurassic. The Cretaceous (K) saw the rise of flowering plants, followed by steep increases in the diversity of insects and mammals.. The increasing steepness of the curve from the Mesozoic onwards is an artefact of the slow-down in radioisotope decay, which causes later periods to appear shorter proportionally than they actually were.. ...
If you look at human beings, its immediately obvious that theres lots of variation. Much of that variation is accompanied by contributing genetic variation - on average, your DNA sequence differs from another persons by about 0.1 percent (about 6 million letters of DNA).. Where did all this variation come from? From mutation, broadly construed. Whenever cells divide, copying errors can occur - from single-letter swaps, deletions, or insertions, to duplications of entire genes (or entire genomes - all the DNA!). Bits of DNA can be chopped out and moved around; in addition, viruses can insert their DNA sequences and sometimes these can stay put, like genetic squatters. All of these sorts of changes have been observed in the lab, and if any of them end up in sperm or egg cells, the resulting mutations are passed on to the next generation. A recent estimate for the single-letter mutations in humans suggests that you inherited about 30 of them from each of your parents! (That doesnt include many ...
A genetic variation could account for 11 percent of the caseload of H.I.V. in Africa, explaining why the disease is more common there than expected, researchers say.
Less appreciated, I think, is the role that inexpensive sequencing will play in basic biology. Today genomics is expensive and concentrated on disease endpoints, which are necessary to motivate the high price tags of these studies. As full representation of human genetic variation gets less expensive, these studies can move back into the study of human biology. We humans are different from one another not only in the diseases that we suffer, but in myriad other details, small and large. Many of those are the result of genetic differences that remain unknown and almost unstudied. It is finally time to study all the normal variation that enriches the human world and experience-memory, behavior and personality. In short, economical sequencing of human genomes will help us to understand who we are and how we got that way ...
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The hybridisation-based SureSeq Solid Tumour Panel minimises PCR bias and duplications commonly associated with alternative enrichment methodologies, enabling greater run-to-run consistency. This is particularly important in situations where there is limited sample or where the ability to detect minor allele frequencies is required, such as in heterogeneous tumour samples. Such sample types require a highly uniform and sensitive enrichment and OGTs expert bait design ensures this by providing efficient and improved uniformity of coverage of the targeted regions, enabling all variants to be called with maximum confidence.. Providing easy access to meaningful data, the SureSeq Solid Tumour Panel comes with OGTs unique Variant Analysis Report, equipping researchers with the freedom to explore and retrospectively interrogate data with additional or new selection criteria, without the need for additional in-house bioinformatics resource. Using the report, data can be easily filtered by numerous ...
11.11% - Im in the process of joining. COMMENTS. - Because my degree is in Psychology with only a minor in architecture, AIA would NOT accept me in their organization. However, Im an Associate Partner in a prestigious International Architectural Firm and enjoying my 36th year with this firm. I attend every AIA COTE event I can. One day the segregationist little boys club mentality will end, but most likely not within my life time. The world and major inflexible organizations need to address a more holistic acceptance approach to human diversity. I hope sooner, than later.. ...
As one might expect, the piece that I co-authored with Brian Boutwell, Heritability and why Parents (but not Parenting) Matter, has stirred up some irritation and even anger. Part of this is simply due to the mildly hyperbolic nature of the title. Obviously on some level parents matter a great deal. What we were attempting to get at though is that most parents have far less precise control of the outcomes of their children than they think they do (you do have great control if you beat or starve your children though!). The lack of control is one reason siblings vary so much.. To make it concrete, imagine across the population variation of personality is 30% heritable, 15% accounted for by shared environment, and 55% explained by non-shared environment. The parental effect is captured in the shared environment. When behavior geneticists downplay the role of parents in affecting outcomes, they are doing so because of this value. In this example the proportion explained by the parents genetic ...
Researchers find that individuals who inherit a certain gene variant are more likely to develop severe flu symptoms and complications.
We have used artificial selection to generate replicate large and small egg lines. Using in situ hybridization, we triple stained these embryos for mRNA of giant (gt), and even-skipped (eve), with Sytox green as a nuclear stain. We used some innovative software called PointCloudToolbox (http://bdtnp.lbl.gov/Fly-Net/bioimaging.jsp?w=software) to compare the eve stripe patterns between the divergently selected lines, as well as number of nuclei at the periphery for mitotic cycle 14 embryos. We found that there is genetic variation for eve stripe allometry segregating in natural populations of D. melanogaster. The phenotypic difference in stripe positioning between the selected lines is neither a spatially restricted shift, nor a coordinate shift of all stripes, but a monotonically increasing (i.e., allometric) shift along both A-P and D-V axes (Figure). Genetic variation for this buffered trait was produced in the absence of environmental or genetic perturbation, and therefore must not be entirely ...
Explore genetic variations and their clinical significance. Search known variants by gene, phenotype or location; or upload and compare your own data.
DB-ID: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro ...
DB-ID: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro ...
A gene variation (rs4143094) that exists in one third of the population has been found to significantly increase the risk of developing colorectal cancer for t…
Based on an extensive corpus study, this paper presents an overview of control patterns in Swedish infinitives and sketches a CxG account of the data. To capture the variety of control relations encountered, the approach combines elements of traditional CxG, Frame Semantics, and Sign-Based Construction Grammar. Three basic mechanisms are distinguished: control by selection, where the controlled element is coinstantiated with an argument of the selecting head; control by feature percolation, where the interpretation is determined by the syntactic and pragmatic context; and arbitrary control, which is treated as non-control, where the understood subject argument is specified for generic or arbitrary reference and, hence, needs no controller. More specific control patterns, including such issues as control shift and pragmatic control, are treated as specific variants of these three basic types.... more ...
Men who die early from heart disease are more likely to have a specific variant of a blood clotting gene. Researchers in Finland carried out tests
Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the Country:City format indicate that the variant was submitted directly to this database by the laboratory indicated ...
Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the Country:City format indicate that the variant was submitted directly to this database by the laboratory indicated ...
Mutation rates in humans are of course much slower than that in a flu virus. But just like a flu virus, there are also fast and slow changing sites (Figure 2). The time scales are different but the principle is the same. The fast changing sites may turn over every few thousand years and in fact make up the majority of the observed variant sites in humans when properly examined by us (Figure 3). This is why the field of ancient DNA kept producing the absurd pattern of no genetic continuity between people living in the same area but from different periods of time. All of the published analyses have simply used the wrong sites that are equivalent to the fast changing antigenic sites in a flu virus. What one should be using are sites with very slow mutation rates, like 1 mutation every 50,000 years. We have been busy reinterpreting the published DNAs for several years now and hope to submit our work soon ...