5,093 results match your criteria epigenetic variation


How (Epi)Genetic Regulation of the LIM-Domain Protein FHL2 Impacts Multifactorial Disease.

Cells 2021 Oct 1;10(10). Epub 2021 Oct 1.

Department of Medical Biochemistry, Amsterdam University Medical Centers, Amsterdam Cardiovascular Sciences, and Amsterdam Gastroenterology, Endocrinology and Metabolism, 1105 AZ Amsterdam, The Netherlands.

Susceptibility to complex pathological conditions such as obesity, type 2 diabetes and cardiovascular disease is highly variable among individuals and arises from specific changes in gene expression in combination with external factors. The regulation of gene expression is determined by genetic variation (SNPs) and epigenetic marks that are influenced by environmental factors. Aging is a major risk factor for many multifactorial diseases and is increasingly associated with changes in DNA methylation, leading to differences in gene expression. Read More

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October 2021

Harnessing the power of multi-omics data for predicting climate change response.

J Anim Ecol 2021 Oct 22. Epub 2021 Oct 22.

Northwest Atlantic Fisheries Centre, Fisheries and Oceans Canada, St. John's, Canada.

Predicting how species will respond to future climate change is of central importance in the midst of the global biodiversity crisis, and recent work has demonstrated the utility of population genomics for improving these predictions. Here, we suggest a broadening of the approach to include other types of genomic variants that play an important role in adaptation, like structural (e.g. Read More

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October 2021

Impact of BMI and waist circumference on epigenome-wide DNA methylation and identification of epigenetic biomarkers in blood: an EWAS in multi-ethnic Asian individuals.

Clin Epigenetics 2021 Oct 20;13(1):195. Epub 2021 Oct 20.

Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, 12 Science Drive 2, #10-01, Tahir Foundation Building, Singapore, 117549, Singapore.

Background: The prevalence of obesity and its related chronic diseases have been increasing especially in Asian countries. Obesity-related genetic variants have been identified, but these explain little of the variation in BMI. Recent studies reported associations between DNA methylation and obesity, mostly in non-Asian populations. Read More

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October 2021

Sequence features of retrotransposons allow for epigenetic variability.

Elife 2021 Oct 20;10. Epub 2021 Oct 20.

Beckman Research Institute, Duarte, United States.

Transposable elements (TEs) are mobile genetic elements that make up a large fraction of mammalian genomes. While select TEs have been co-opted in host genomes to have function, the majority of these elements are epigenetically silenced by DNA methylation in somatic cells. However, some TEs in mice, including the Intracisternal A-particle (IAP) subfamily of retrotransposons, have been shown to display interindividual variation in DNA methylation. Read More

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October 2021

Novel implications of a strictly monomorphic (GCC) repeat in the human PRKACB gene.

Sci Rep 2021 Oct 19;11(1):20629. Epub 2021 Oct 19.

Iranian Research Center on Aging, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

PRKACB (Protein Kinase CAMP-Activated Catalytic Subunit Beta) is predominantly expressed in the brain, and regulation of this gene links to neuroprotective effects against tau and Aβ-induced toxicity. Here we studied a (GCC)-repeat spanning the core promoter and 5' UTR of this gene in 300 human subjects, consisting of late-onset neurocognitive disorder (NCD) (N = 150) and controls (N = 150). We also implemented several models to study the impact of this repeat on the three-dimensional (3D) structure of DNA. Read More

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October 2021

The epigenome: key to understanding and predicting gout flares.

Pathology 2021 Oct 14. Epub 2021 Oct 14.

Department of Pathology and Molecular Medicine, Wellington School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand. Electronic address:

Gout is a form of arthritis, resulting from an inflammatory reaction to the deposition of monosodium urate (MSU) crystals in the synovial fluid of the joint space. It is characterised by periods of acute inflammation in the affected joint, or joints (known as gout flares), separated by asymptomatic periods. There seems to be substantial overlap between environmental triggers of gout flares and common environmental modifiers (diet, pharmaceuticals, and stress) of epigenetic markers (DNA methylation, histone modifications, and ncRNA). Read More

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October 2021

Genetic and Epigenetic Control of Puberty.

Sex Dev 2021 Oct 14:1-10. Epub 2021 Oct 14.

Institute of Human Genetics, Faculty of Medicine, Pontificia Universidad Javeriana, Bogotá, Colombia.

Puberty is a complex transitional phase in which reproductive capacity is achieved. There is a very wide variation in the age range of the onset of puberty, which follows a familial, ethnic, and sex pattern. The hypothalamic-pituitary-gonadal axis and several genetic, environmental, and nutritional factors play an important role in the onset of and throughout puberty. Read More

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October 2021

High genetic and epigenetic variation of transposable elements: Potential drivers to rapid adaptive evolution for the noxious invasive weed .

Ecol Evol 2021 Oct 15;11(19):13501-13517. Epub 2021 Sep 15.

College of Life Sciences South China Agricultural University Guangzhou China.

Why invasive species can rapidly adapt to novel environments is a puzzling question known as the genetic paradox of invasive species. This paradox is explainable in terms of transposable elements (TEs) activity, which are theorized to be powerful mutational forces to create genetic variation. , a noxious invasive weed, in this sense provides an excellent opportunity to test the explanation. Read More

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October 2021

TIGER: The gene expression regulatory variation landscape of human pancreatic islets.

Cell Rep 2021 Oct;37(2):109807

Life Sciences Department, Barcelona Supercomputing Center (BSC), Barcelona 08034, Spain; Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona 08010, Spain. Electronic address:

Genome-wide association studies (GWASs) identified hundreds of signals associated with type 2 diabetes (T2D). To gain insight into their underlying molecular mechanisms, we have created the translational human pancreatic islet genotype tissue-expression resource (TIGER), aggregating >500 human islet genomic datasets from five cohorts in the Horizon 2020 consortium T2DSystems. We impute genotypes using four reference panels and meta-analyze cohorts to improve the coverage of expression quantitative trait loci (eQTL) and develop a method to combine allele-specific expression across samples (cASE). Read More

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October 2021

Exposure to ionizing radiation disrupts normal epigenetic aging in Japanese medaka.

Aging (Albany NY) 2021 Oct 13;13(19):22752-22771. Epub 2021 Oct 13.

Odum School of Ecology, University of Georgia, Athens, GA 30602, USA.

Alterations to the epigenome are a hallmark of biological aging and age-dependent patterning of the DNA methylome ("epigenetic aging") can be modeled to produce epigenetic age predictors. Rates of epigenetic aging vary amongst individuals and correlate to the onset of age-related disease and all-cause mortality. Yet, the origins of epigenetic-to-chronological age discordance are not empirically resolved. Read More

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October 2021

Combination of a synthetic retinoid and a DNA demethylating agent induced differentiation of neuroblastoma through retinoic acid signal reprogramming.

Br J Cancer 2021 Oct 11. Epub 2021 Oct 11.

Division of Epigenomics, National Cancer Center Research Institute, Tokyo, Japan.

Background: The CpG island methylator phenotype of neuroblastoma (NBL) is strongly associated with poor prognosis and can be targeted by 5-aza-2'-deoxycytidine (5-aza-dC). Differentiation therapy is a standard maintenance therapy for high-risk NBLs. However, the in vivo effect of tamibarotene, a synthetic retinoic acid, and the efficacy of its combination with 5-aza-dC have not been studied. Read More

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October 2021

Integrative epigenomic and high-throughput functional enhancer profiling reveals determinants of enhancer heterogeneity in gastric cancer.

Genome Med 2021 Oct 11;13(1):158. Epub 2021 Oct 11.

Cancer and Stem Cell Biology Program, Duke-NUS Medical School, Singapore, 169857, Singapore.

Background: Enhancers are distal cis-regulatory elements required for cell-specific gene expression and cell fate determination. In cancer, enhancer variation has been proposed as a major cause of inter-patient heterogeneity-however, most predicted enhancer regions remain to be functionally tested.

Methods: We analyzed 132 epigenomic histone modification profiles of 18 primary gastric cancer (GC) samples, 18 normal gastric tissues, and 28 GC cell lines using Nano-ChIP-seq technology. Read More

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October 2021

Evolutionary implications of the RNA N6-methyladenosine methylome in plants.

Mol Biol Evol 2021 Oct 11. Epub 2021 Oct 11.

State Key Laboratory of Crop Stress Biology for Arid Areas, Center of Bioinformatics, College of Life Sciences, Northwest A&F University, Shaanxi, Yangling, 712100, China.

Epigenetic modifications play important roles in genome evolution and innovation. However, most analyses have focused on the evolutionary role of DNA modifications, and little is understood about the influence of post-transcriptional RNA modifications on genome evolution. To explore the evolutionary significance of RNA modifications, we generated transcriptome-wide profiles of N6-methyladenosine (m6A), the most prevalent internal modification of mRNA, for 13 representative plant species spanning over half a billion years of evolution. Read More

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October 2021

Metabolic Fate of Dietary Glucosinolates and Their Metabolites: A Role for the Microbiome.

Front Nutr 2021 22;8:748433. Epub 2021 Sep 22.

Linus Pauling Institute, Oregon State University, Corvallis, OR, United States.

Robust evidence shows that phytochemicals from cruciferous vegetables, like broccoli, are associated with numerous health benefits. The anti-cancer properties of these foods are attributed to bioactive isothiocyanates (ITCs) and indoles, phytochemicals generated from biological precursor compounds called glucosinolates. ITCs, and particularly sulforaphane (SFN), are of intense interest as they block the initiation, and suppress the progression of cancer, through genetic and epigenetic mechanisms. Read More

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September 2021

Gene Body Methylation Confers Transcription Robustness in Mangroves During Long-Term Stress Adaptation.

Front Plant Sci 2021 22;12:733846. Epub 2021 Sep 22.

State Key Laboratory of Biocontrol and Guangdong Key Laboratory of Plant Resources, School of Life Sciences, Sun Yat-sen University, Guangzhou, China.

Whether induced epigenetic changes contribute to long-term adaptation remains controversial. Recent studies indicate that environmentally cued changes in gene body methylation (gbM) can facilitate acclimatization. However, such changes are often associated with genetic variation and their contribution to long-term stress adaptation remains unclear. Read More

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September 2021

Targeting microRNAs with thymoquinone: a new approach for cancer therapy.

Cell Mol Biol Lett 2021 Oct 9;26(1):43. Epub 2021 Oct 9.

Molecular Medicine Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.

Cancer is a global disease involving transformation of normal cells into tumor types via numerous mechanisms, with mortality among all generations, in spite of the breakthroughs in chemotherapy, radiotherapy and/or surgery for cancer treatment. Since one in six deaths is due to cancer, it is one of the overriding priorities of world health. Recently, bioactive natural compounds have been widely recognized due to their therapeutic effects for treatment of various chronic disorders, notably cancer. Read More

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October 2021

Epigenetic modifications affect the rate of spontaneous mutations in a pathogenic fungus.

Nat Commun 2021 10 7;12(1):5869. Epub 2021 Oct 7.

Environmental Genomics, Christian-Albrechts University of Kiel, Kiel, Germany.

Mutations are the source of genetic variation and the substrate for evolution. Genome-wide mutation rates appear to be affected by selection and are probably adaptive. Mutation rates are also known to vary along genomes, possibly in response to epigenetic modifications, but causality is only assumed. Read More

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October 2021

Mapping epigenetic divergence in the massive radiation of Lake Malawi cichlid fishes.

Nat Commun 2021 10 7;12(1):5870. Epub 2021 Oct 7.

Wellcome/CRUK Gurdon Institute, University of Cambridge, Cambridge, UK.

Epigenetic variation modulates gene expression and can be heritable. However, knowledge of the contribution of epigenetic divergence to adaptive diversification in nature remains limited. The massive evolutionary radiation of Lake Malawi cichlid fishes displaying extensive phenotypic diversity despite extremely low sequence divergence is an excellent system to study the epigenomic contribution to adaptation. Read More

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October 2021

Multiomics-based analyses of KPNA2 highlight its multiple potentials in hepatocellular carcinoma.

PeerJ 2021 21;9:e12197. Epub 2021 Sep 21.

Henan Institute of Medical and Pharmaceutical Sciences, Zhengzhou University, Zhengzhou, Henan Province, China.

Dysregulation and prognostic roles of Karyopherin 2 (KPNA2) were reported in many malignancies including hepatocellular carcinoma (HCC). A multi-omics analysis of KPNA2 is needed to gain a deeper understanding of its multilevel molecular characteristics and provide novel clues for HCC diagnosis, prognosis, and target therapy. Herein multi-omic alterations of KPNA2 were analyzed at genetic, epigenetic, transcript, and protein levels with evaluation of their relevance with clinicopathological features of HCC by integrative analyses. Read More

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September 2021

Global histone modification analysis reveals hypoacetylated H3 and H4 histones in B Cells from systemic lupus erythematosus patients.

Immunol Lett 2021 Oct 4;240:41-45. Epub 2021 Oct 4.

Department of Biochemistry, Panjab University, Chandigarh, India. Electronic address:

Objective: Histone modification is an epigenetic alteration which either activates or suppresses gene transcription. Studies revealed the association of altered global histone modification in T cells and monocytes with the pathogenesis of Systemic lupus erythematosus (SLE). Herein, we investigated the level of global histone 3 (H3) and histone 4 (H4) acetylation in B cells of SLE patients. Read More

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October 2021

Downregulation of CYP2E1 is associated with poor prognosis and tumor progression of gliomas.

Cancer Med 2021 Oct 6. Epub 2021 Oct 6.

Department of Neurosurgery, Renmin Hospital of Wuhan University, Wuhan, Hubei, P.R. China.

Objective: To explore the role and possible regulatory mechanisms of CYP2E1 in gliomas.

Methods: RNA-seq data and corresponding clinical information of glioma patients were collected from The Cancer Genome Atlas and Chinese Glioma Genome Atlas, and mRNA data of normal brain tissues were obtained by the Genotype-Tissue Expression project. The Wilcoxon test was performed to analyze the correlation between CYP2E1 expression and glioma subtypes. Read More

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October 2021

Novel generic models for differentiating stem cells reveal oscillatory mechanisms.

J R Soc Interface 2021 Oct 6;18(183):20210442. Epub 2021 Oct 6.

Department of Microbial Sciences, University of Surrey, Guildford GU2 7XH, UK.

Understanding cell fate selection remains a central challenge in developmental biology. We present a class of simple yet biologically motivated mathematical models for cell differentiation that generically generate oscillations and hence suggest alternatives to the standard framework based on Waddington's epigenetic landscape. The models allow us to suggest two generic dynamical scenarios that describe the differentiation process. Read More

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October 2021

Single cell biology-a Keystone Symposia report.

Ann N Y Acad Sci 2021 Oct 3. Epub 2021 Oct 3.

Department of Biochemistry and BioFrontiers Institute, University of Colorado Boulder, Boulder, Colorado.

Single cell biology has the potential to elucidate many critical biological processes and diseases, from development and regeneration to cancer. Single cell analyses are uncovering the molecular diversity of cells, revealing a clearer picture of the variation among and between different cell types. New techniques are beginning to unravel how differences in cell state-transcriptional, epigenetic, and other characteristics-can lead to different cell fates among genetically identical cells, which underlies complex processes such as embryonic development, drug resistance, response to injury, and cellular reprogramming. Read More

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October 2021

Rapid Characterization of Complex Killer Cell Immunoglobulin-Like Receptor (KIR) Regions Using Cas9 Enrichment and Nanopore Sequencing.

Front Immunol 2021 14;12:722181. Epub 2021 Sep 14.

Comparative Genetics and Refinement, Biomedical Primate Research Centre, Rijswijk, Netherlands.

Long-read sequencing approaches have considerably improved the quality and contiguity of genome assemblies. Such platforms bear the potential to resolve even extremely complex regions, such as multigenic immune families and repetitive stretches of DNA. Deep sequencing coverage, however, is required to overcome low nucleotide accuracy, especially in regions with high homopolymer density, copy number variation, and sequence similarity, such as the and gene clusters of the immune system. Read More

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September 2021

Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.

Brain 2021 Sep 30. Epub 2021 Sep 30.

Institute of Neurogenomics (ING), Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.

Dystonia is a prevalent, heterogeneous movement disorder characterized by involuntarily abnormal postures. Biomarkers of dystonia are notoriously lacking. Here, a biomarker is reported for histone lysine methyltransferase (KMT2B)-deficient dystonia, a leading subtype among the individually rare monogenic dystonias. Read More

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September 2021

Genetic differences in the temporal and environmental stability of transgenerational environmental effects.

Evolution 2021 Sep 29. Epub 2021 Sep 29.

Department of Biology, Duke University, Durham, North Carolina, 27708.

Environments influence the expression of phenotypes of individuals, their progeny, and even their grandprogeny. The duration of environmental effects and how they are modified by subsequent environments are predicted to be targets of natural selection in variable environments. However, little is known about the genetic basis of the temporal persistence of environmental effects and their stability of expression across subsequent environments, or even the extent to which natural genotypes differ in these attributes of environmental effects. Read More

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September 2021

Epigenetic Response of to Stress: Tracking Methylation Level and Search for Methylation Patterns via Whole-Genome Sequencing.

Microorganisms 2021 Aug 24;9(9). Epub 2021 Aug 24.

Department of Biotechnology and Food Microbiology, Poznan University of Life Sciences, 460-637 Poznań, Poland.

DNA methylation is a common, but not universal, epigenetic modification that plays an important role in multiple cellular processes. While definitely settled for numerous plant, mammalian, and bacterial species, the genome methylation in different fungal species, including widely studied and industrially-relevant yeast species, , is still a matter of debate. In this paper, we report a differential DNA methylation level in the genome of subjected to sequential subculturing and to heat stress conditions. Read More

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Molecular Dysregulation in Autism Spectrum Disorder.

J Pers Med 2021 Aug 27;11(9). Epub 2021 Aug 27.

Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.

Autism Spectrum Disorder (ASD) comprises a heterogeneous group of neurodevelopmental disorders with a strong heritable genetic component. At present, ASD is diagnosed solely by behavioral criteria. Advances in genomic analysis have contributed to numerous candidate genes for the risk of ASD, where rare mutations and s common variants contribute to its susceptibility. Read More

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Genetic Variation in on 1p36.13 Is Associated with Common Forms of Human Generalized Epilepsy.

Genes (Basel) 2021 Sep 18;12(9). Epub 2021 Sep 18.

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

We performed a genome-wide association study (GWAS) to identify genetic variation associated with common forms of idiopathic generalized epilepsy (GE) and focal epilepsy (FE). Using a cohort of 2220 patients and 14,448 controls, we searched for single nucleotide polymorphisms (SNPs) associated with GE, FE and both forms combined. We did not find any SNPs that reached genome-wide statistical significance ( ≤ 5 × 10) when comparing all cases to all controls, and few SNPs of interest comparing FE cases to controls. Read More

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September 2021

Clinical Functional Genomics.

Cancers (Basel) 2021 Sep 15;13(18). Epub 2021 Sep 15.

Swansea University Medical School, Singleton Park, Swansea SA2 8PP, Wales, UK.

Functional genomics is the study of how the genome and its products, including RNA and proteins, function and interact to affect different biological processes. The field of functional genomics includes transcriptomics, proteomics, metabolomics and epigenomics, as these all relate to controlling the genome leading to expression of particular phenotypes. By studying whole genomes-clinical genomics, transcriptomes and epigenomes-functional genomics allows the exploration of the diverse relationship between genotype and phenotype, not only for humans as a species but also in individuals, allowing an understanding and evaluation of how the functional genome 'contributes' to different diseases. Read More

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September 2021