• To better understand its genetic architecture, we analyze ultra-rare de novo mutations in 354 trios with bipolar disorder. (nature.com)
  • The enormous variants and mutations found mean that we are still far from being able to concretely clarify a genotype-phenotype relationship. (bvsalud.org)
  • Epistasis between genes is traditionally studied with mutations that eliminate protein activity, but most natural genetic variation is in cis-regulatory DNA and influences gene expression and function quantitatively. (bvsalud.org)
  • Classic evolutionary theories only consider the functional consequence of missense mutations, and the synonymous mutations are regarded as neutral sites and are used as "control group" to test the selection force on missense mutations [ 3 , 4 , 5 ]. (biomedcentral.com)
  • Evolutionary study indicated that synonymous mutations in oncogenes were also suppressed due to undetermined selection pressure [ 25 ]. (biomedcentral.com)
  • Pathologic and Phenotypic Alterations in a Mou. (prolekarniky.cz)
  • Combining a promoter allelic series with two other loci, we collected over 30,000 phenotypic data points from 46 genotypes to quantify how allele strength transforms epistasis. (bvsalud.org)
  • Phenotypic plasticity and evolutionary adaptation allow populations to cope with global change, but limits and costs to adaptation under multiple stressors are insufficiently understood. (bvsalud.org)
  • The identification of causal or predictive variants/genes/mechanisms for disease-associated traits is characterized by 'complex' networks of molecular phenotypes. (researchgate.net)
  • Genetics is the study of genes , genetic variation , and heredity in organisms . (alquds.edu)
  • We, in this study, perform a comprehensive analysis of exonic DNMs in the protein-coding regions as rare variants potentially related to BD. (nature.com)
  • Using a combination of chromatin biochemistry, computational modelling, atomic force microscopy (AFM), genetics, genomics and cell biology, Dr. Dalal and colleagues are investigating whether chromatin adopts alternate structural conformations in cancer cells, the functional consequences of large-scale chromosomal alterations upon the cancer epigenome, and identifying small molecules which can target these structures or processes. (elifesciences.org)
  • Understanding the origin of novel and beneficial traits - evolutionary adaptations and innovations - is a challenge central to biology. (biomedcentral.com)
  • The mechanisms of reproductive isolation are a collection of evolutionary mechanisms, behaviors and physiological processes critical for speciation. (wikipedia.org)
  • A proposed workflow for proactive virus surveillance and prediction of variants for vaccine design. (cdc.gov)
  • Genetic and epidemiological studies have consistently demonstrated that BD is a highly heritable phenotype 2 . (nature.com)
  • The Team QEM "Quantitative Evolutionary Microbiology" , directed by Olivier Tenaillon and Mathilde Lescat , unraveled the dynamics of adaptation by combining theoretical and mechanistic models applied to quasi-exhaustive libraries of mutants at the gene or operon level, experimental evolution in vitro and in vivo, as well as inferences from phylogenetic and epidemiological data. (iame-research.center)
  • Identifying the molecular and evolutionary bases of hybrid sterility is necessary for understanding the mechanisms of speciation. (elifesciences.org)
  • The developed model allows studying various resistance mechanisms, inherent fitness effects, selection forces and epistasis based on microscopic kinetic data. (plos.org)
  • Since the evolutionary forces driving genetic changes that cause infertility between species are likely also acting within species, the study of hybrid sterility also promises significant insight into mechanisms underlying infertility within species. (elifesciences.org)
  • Indeed, 100 years later the Kraepelin's distinction between affective disorders and schizophrenia ( dementia praecox ), psychiatric research emphasizes the organic etiology of psychosis, in terms of genetic vulnerability, pathological and functional brain alterations. (clinical-practice-and-epidemiology-in-mental-health.com)
  • Clonal expansion of high-performing producer cells can favor the emergence of low-producing escape variants that have shed the load from metabolic burden or toxicities imposed by product synthesis or secretion. (savingtheworldwithscience.com)
  • They exist in biological systems as different as promiscuous enzymes and genome-scale metabolic reaction networks, and can give rise to evolutionary adaptations and innovations. (biomedcentral.com)
  • Flux, toxicity, and expression costs generate complex genetic interactions in a metabolic pathway. (iame-research.center)
  • Genetic processes work in combination with an organism's environment and experiences to influence development and behavior , often referred to as nature versus nurture . (alquds.edu)
  • In addition, it provides further support for models in which genetic conflicts, such as those caused by meiotic drive alleles, can drive speciation. (elifesciences.org)
  • The (Bateson) Dobzhansky-Muller (BDM) model provided a solution to the paradox of how genetic changes that lead to speciation could be tolerated by natural selection despite decreasing the fitness potential of an organism. (elifesciences.org)
  • Genome sequencing of SARS-CoV-2 reveals the prevalence of variant B 1.1.7 in Egypt. (cdc.gov)
  • We know little about their prevalence in the gene expression phenotypes of regulatory circuits, important sources of evolutionary innovations. (biomedcentral.com)
  • A temporal and spatial study of genetic structure in four species of bladed Bangiales (Rhodophyta) from the southeastern Pacific coast of Chile. (sb-roscoff.fr)
  • Adaptive laboratory evolution has some major benefits as compared with classical genetic engineering but also some inherent limitations. (biomedcentral.com)
  • We present important studies on laboratory evolution and evolutionary engineering with the aim of improving microbial growth on relevant substrates and stress resistance. (biomedcentral.com)
  • Adaptive laboratory evolution as a scientific approach is very important towards the analysis of evolutionary phenomena in a controlled laboratory setting. (biomedcentral.com)
  • Though there had been considerable between-study inconsistencies until recently, large-scale genome-wide association studies (GWAS) of common single-nucleotide polymorphisms (SNPs) in this decade have revealed several tens of genetic loci robustly associated with BD and have contributed to a better understanding of the genetic architecture of BD 3 , 4 . (nature.com)
  • Both CNV and SNPs are immensely valuable in genetic screening studies and kinship analysis. (jove.com)
  • Genetic resources of macroalgae: Development of an efficient method using microsatellite markers in non-model organisms. (sb-roscoff.fr)
  • Furthermore, we discuss the existence of cross-stress dependencies in bacteria and yeasts and the implications of evolutionary engineering for non-conventional host organisms. (biomedcentral.com)
  • Our approach and findings expose an underexplored dimension of epistasis, in which cis-regulatory allelic diversity within gene regulatory networks elicits nonlinear, unpredictable interactions that shape phenotypes. (bvsalud.org)
  • Examples of 2-omics analyses include expression quantitative trait locus eQTL (Franke & Jansen, 2009) and methylation quantitative trait locus meQTL (Smith, Kilaru, Kocak, Almli, & Mercer, 2014) that, respectively, assess the influence of genetic and epigenetic markers on gene expression. (researchgate.net)
  • These evidences are often based on the derivation of standard measures of association, linking (epi-)genetic markers to gene expression combined with gene expression analysis (Wagner, Busche, Ge, Kwan, & Pastinen, 2014). (researchgate.net)
  • Both circuits and gene expression phenotypes that are robust to genetic change are associated with a greater number of latent phenotypes. (biomedcentral.com)
  • Plasmids are extra-chromosomal mobile genetic elements able to transfer between bacteria through conjugation 1 . (nature.com)
  • Insights from a comprehensive study of Trypanosoma cruzi: A new mitochondrial clade restricted to North and Central America and genetic structure of TcI in the region. (cdc.gov)
  • Examples of recent important projects are the 1001 Genomes project for Arabidopsis thaliana, and the systematic dissection of deleterious epistasis between Arabidopsis strains due to autoimmunity. (elifesciences.org)
  • Our observations suggest that latent phenotypes are pervasive in regulatory circuits, and may thus be an important source of evolutionary adaptations and innovations involving gene regulation. (biomedcentral.com)
  • An important source of evolutionary adaptations are gene regulatory circuits. (biomedcentral.com)
  • He joined in 2000 the Department of Genetic Medicine and Development, University of Geneva Medical School. (agbt.org)
  • Therefore, numerous genetic studies for BD have been conducted. (nature.com)
  • Alteration of gene copy numbers are associated with lung cancer and the determination of copy number variations (CNV) is appropriate for the discrimination between tumor and non-tumor tissue in lung cancer. (bvsalud.org)
  • Applying an evolutionary mismatch framework to understand disease susceptibility. (nih.gov)
  • He described several rules of biological inheritance in his works The genetic laws of the Nature (Die genetischen Gesetze der Natur, 1819). (alquds.edu)
  • Although gene duplicability has been observed to differ by duplication mechanism and evolutionary rate, there is so far no broad characterization of its determinants. (bvsalud.org)
  • Primary and promiscuous functions coexist during evolutionary innovation through whole protein domain acquisitions. (iame-research.center)
  • The impact of Pleistocene glaciations and environmental gradients on the genetic structure of Embothrium coccineum. (sb-roscoff.fr)
  • Eventually, these low- or non-producing variants can reduce product yield and quality, making genetic homogeneity a crucial, yet often overlooked parameter of process scale-up. (savingtheworldwithscience.com)
  • For example, some people of European genetic ancestry may carry two copies of the Rhesus blood group gene, RHD, while some may have just one and others none at all. (jove.com)
  • Herein we propose a measure called shortest path alteration fraction (SPAF) to compare any two networks by shortest paths, using sets. (jcbose.ac.in)
  • A codon is a DNA or RNA sequence of three nucleotides (a trinucleotide) that forms a unit of genetic information encoding a particular amino acid. (genome.gov)