Abstract
Transcription is regulated by two major mechanisms. On the one hand, changes in DNA sequence are responsible for genetic gene regulation. On the other hand, chromatin structure regulates gene activity at the epigenetic level. Given the fundamental participation of these mechanisms in transcriptional regulation of virtually any gene, they are likely to co-regulate a significant proportion of the genome. The simple concept behind this idea is that a mutation may have a significant impact on local chromatin structure by modifying DNA methylation patterns or histone type recruitment. Yet, the relevance of these interactions is poorly understood. Elucidating how genetic and epigenetic mechanisms co-participate in regulating transcription may assist in some of the unresolved cases of genetic variant-phenotype association. One example is loci that have biologically predictable functions but genotypes that fail to correlate with phenotype, particularly disease outcome. Conversely, a crosstalk between genetics and epigenetics may provide a mechanistic explanation for cases in which a convincing association between phenotype and a genetic variant has been established, but the latter does not lie in a promoter or protein coding sequence. Here, we review recently published data in the field and discuss their implications for genetic variant-phenotype association studies.
Keywords: Chromatin, DNA methylation, epigenetics, genetic variant, histone, single nucleotide polymorphism
Current Genomics
Title: Genetics Talks to Epigenetics? The Interplay Between Sequence Variants and Chromatin Structure
Volume: 11 Issue: 5
Author(s): Silvio Zaina, Elva L. Perez-Luque and Gertrud Lund
Affiliation:
Keywords: Chromatin, DNA methylation, epigenetics, genetic variant, histone, single nucleotide polymorphism
Abstract: Transcription is regulated by two major mechanisms. On the one hand, changes in DNA sequence are responsible for genetic gene regulation. On the other hand, chromatin structure regulates gene activity at the epigenetic level. Given the fundamental participation of these mechanisms in transcriptional regulation of virtually any gene, they are likely to co-regulate a significant proportion of the genome. The simple concept behind this idea is that a mutation may have a significant impact on local chromatin structure by modifying DNA methylation patterns or histone type recruitment. Yet, the relevance of these interactions is poorly understood. Elucidating how genetic and epigenetic mechanisms co-participate in regulating transcription may assist in some of the unresolved cases of genetic variant-phenotype association. One example is loci that have biologically predictable functions but genotypes that fail to correlate with phenotype, particularly disease outcome. Conversely, a crosstalk between genetics and epigenetics may provide a mechanistic explanation for cases in which a convincing association between phenotype and a genetic variant has been established, but the latter does not lie in a promoter or protein coding sequence. Here, we review recently published data in the field and discuss their implications for genetic variant-phenotype association studies.
Export Options
About this article
Cite this article as:
Zaina Silvio, Perez-Luque Elva L. and Lund Gertrud, Genetics Talks to Epigenetics? The Interplay Between Sequence Variants and Chromatin Structure, Current Genomics 2010; 11 (5) . https://dx.doi.org/10.2174/138920210791616662
DOI https://dx.doi.org/10.2174/138920210791616662 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
Call for Papers in Thematic Issues
Advanced AI Techniques in Big Genomic Data Analysis
The thematic issue on "Advanced AI Techniques in Big Genomic Data Analysis" aims to explore the cutting-edge methodologies and applications of artificial intelligence (AI) in the realm of genomic research, where vast amounts of data pose both challenges and opportunities. This issue will cover a broad spectrum of AI-driven strategies, ...read more
Applications of Single-cell Sequencing Technology in Reproductive Medicine
Single cell sequencing (SCS) technology utilizes individual cells' genetic material to sequence their genome, transcriptome, and epigenetics at the molecular level. It offers insights into cell heterogeneity and enables the study of limited biological materials. Since its recognition as a valuable technique in 2011, single cell sequencing has yielded numerous ...read more
Current Genomics in Cardiovascular Research
Cardiovascular diseases are the main cause of death in the world, in recent years we have had important advances in the interaction between cardiovascular disease and genomics. In this Research Topic, we intend for researchers to present their results with a focus on basic, translational and clinical investigations associated with ...read more
Deep learning in Single Cell Analysis
The field of biology is undergoing a revolution in our ability to study individual cells at the molecular level, and to integrate data from multiple sources and modalities. This has been made possible by advances in technologies for single-cell sequencing, multi-omics profiling, spatial transcriptomics, and high-throughput imaging, as well as ...read more
Related Journals
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
Molecular Mechanisms of Skeletal Muscle Insulin Resistance in Type 2 Diabetes
Current Diabetes Reviews Thrombolytic Treatment of Cardiac Myxoma-Induced Ischemic Stroke: A Review
Current Drug Safety The Interaction of Depression and Diabetes: A Review
Current Diabetes Reviews Exploring Pharmacological Significance of Chalcone Scaffold: A Review
Current Medicinal Chemistry ErbB4 and its Isoforms: Patentable Drug Targets?
Recent Patents on DNA & Gene Sequences Advances in Antithrombotic Agents
Cardiovascular & Hematological Agents in Medicinal Chemistry Pharmacological Treatment of Obesity, Food Intake, and Reversal of Metabolic Disorders
Current Nutrition & Food Science From Mars to Venus: Gender Differences in the Management and Outcomes of Acute Coronary Syndromes
Current Pharmaceutical Design The Emergence of Plasma Membrane Calcium Pump as a Novel Therapeutic Target for Heart Disease
Mini-Reviews in Medicinal Chemistry Class IV Antiarrhythmic Agents: New Compounds Using an Old Strategy
Current Pharmaceutical Design The Use of Exercise Echocardiography in the Evaluation of Mitral Regurgitation
Current Cardiology Reviews Autologous Mesenchymal Stem Cell Therapy in Progressive Multiple Sclerosis: An Open Label Study
Current Stem Cell Research & Therapy Medical Applications of Hyperthermia Based on Magnetic Nanoparticles
Recent Patents on Biomedical Engineering (Discontinued) Hydrogen Sulfide as a New Endogenous Gaseous Transmitter in the Cardiovascular System
Current Vascular Pharmacology Nanotechnology and Antioxidant Therapy: An Emerging Approach for Neurodegenerative Diseases
Current Medicinal Chemistry Inflammasome and Atherogenesis
Current Pharmaceutical Design Treatment Strategies of Obsessive-Compulsive Disorder and Panic Disorder/Agoraphobia
Current Topics in Medicinal Chemistry Host Molecular Defense Mechanisms Against Chlamydophila pneumoniae and Genetic Studies of Immune-Response-Related Genes in Asthma
Recent Patents on Inflammation & Allergy Drug Discovery Should Percutaneous Coronary Intervention be the Standard Treatment Strategy for Significant Coronary Artery Disease in all Octogenarians?
Current Cardiology Reviews Psychological Stress in Pathogenesis of Essential Hypertension
Current Hypertension Reviews