Genetics encompasses study of structure and function of genes; causative factors, physiological consequences of genetic variations as well as various other aspects of heredity. Genetic studies involve in depth analysis of diverse features of DNA and chromosomes, reproduction and heredity, recombination and genetic linkage, gene expression, the central dogma of life, genetic mutations, evolution, genomics and DNA sequencing. Genetics helps in comprehending the molecular aspects of various diseases and helps us to formulate specific treatment and management strategies. Scientists are currently engaged in finding the cure for chronic diseases by modifying the associated genes, a process referred to as gene therapy and it is speculated as the future of medical treatment practices.
Genetic mutation is a permanent change in the DNA. Mutations may or may not produce changes in the organism. Hereditary mutations and Somatic mutations are the two types of Gene mutations. Former types are inherited from the parents and are present in every cell of the human body whereas latter type may occur at some point of life time due to environmental factors.
Certain enzymes repair gene mutations that could cause a genetic disorder. These enzymes identify and repair mistakes in DNA before the gene is expressed and an altered protein is produced. When a mutation alters a protein, it can disrupt normal development. Mutation may occur from a single DNA to a large segment of chromosome that involves multiple genes.
Nuclear medicine is a medical speciality that uses small amounts of radioactive material in the diagnosis and treatment of the disease in early stage like heart disease, neurological disorders and several types of cancer and other abnormalities of the body. Nuclear medicine procedures pinpoint the molecular activity within the body and they offer the potential to identify disease in its earliest stages as well as a patient’s immediate response to therapeutic interventions. It gives the medical information in a safe and painless manner that may otherwise be unavailable, requires surgery or more expensive and invasive diagnostic tests. A pharmaceutical is attached to a small quantity of radioisotopes and the combination is called radiopharmaceutical. There are different radiopharmaceuticals available for different parts of the body and their use depends on the condition to be diagnosed and treated.
Cancer linked DNA hypo-methylation and hyper-methylation are present throughout the human genome. The hyper-methylation facilitates cancer progress by repressing the tumour suppressor gene. Hypo-methylation contribution towards cancer has not yet been clear. Recent studies of tissue specific methylation have suggested that DNA hypo-methylation aid tumour formation by many pathways. Loss of DNA methylation associated with cancer may alter transcription. In addition, DNA hypo-methylation might affect promoter usage production of intra-genic non-coding RNA transcripts, co-transcriptional splicing and initiation and elongation of transcription. Studies of hemi methylation of DNA in cancerous cells as well as normal tissues suggest that active de-methylation can explain cancer associated DNA hypo-methylation. New studies that genomic 5-hydroxymethylcytosine is intermediate in DNA de-methylation exhibits cancer associated losses. It suggests that both decreased hydroxyl-methylation and methylation of DNA play important role in carcinogenesis.
Post-translational modifications (PTMs) of histones have emerged as key players in the regulation of gene expression. However, little is known to what extent PTMs can directly impact chromatin. It has been suggested that PTMs of core histones (H2A, H2B, H3 and H4) have the potential to govern chromatin function according to the so called “histone code” hypothesis by recruiting specific binding proteins. The goal of my project is to gain insight in the function acetylation within the globular domain of H3 (H3K56/64/115/122) and to compare these modifications with histone tail modifications, in vivo by using the mouse ES cells. To study the impact of PTMs in vivo, all endogenous wild type (WT) H3 gene copies have to be replaced with mutant copies. Hence, the primary focus of my project is to establish a model system that exclusively express mutated H3 (e.g., mimicking acetylation) in order to study effects of H3 globular domain modifications on gene expression, chromatin architecture as well as to study, cross talks and synergisms between globular domain modifications and compare the effects with tail modifications.
RNA modifications are emerging players in the field of post-transcriptional regulation of gene expression, and are attracting a comparable degree of research interest to DNA and histone modifications in the field of epigenetics. We now know of more than 150 RNA modifications and the true potential of a few of these is currently emerging as the consequence of a leap in detection technology, principally associated with high-throughput sequencing. This Review outlines the major developments in this field through a structured discussion of detection principles, lays out advantages and drawbacks of new high-throughput methods and presents conventional biophysical identification of modifications as meaningful ways for validation.
Stem/progenitor cells often generate distinct cell types in a stereotyped birth order, and over time lose competence to specify earlier-born fates by unknown mechanisms. In Drosophila, the Hunchback transcription factor acts in neural progenitors (neuroblasts) to specify early-born neurons, in part by indirectly inducing the neuronal transcription of its target genes, including the hunchback gene. We used in vivo immuno-DNA FISH and found that the hunchback gene moves to the neuroblasts nuclear periphery, a repressive subnuclear compartment, precisely when competence to specify early-born fate is lost, and several hours and cell divisions following termination of its transcription. Hunchback movement to the lamina correlated with down regulation of the neuroblasts nuclear protein, distal antenna (Dan). Either prolonging Dan expression or disrupting lamina interfered with hunchback repositioning and extended neuroblasts competence. We propose that neuroblasts undergo a developmentally-regulated subnuclear genome reorganization to permanently silence Hunchback target genes that results in loss of progenitor competence.
Genomic imprinting, where the genes from one parent have different expression properties to those of the other parent, occurs in plants. It has potentially significant consequences because of the importance of hybrids in plant evolution and plant breeding, and provides a mechanism that can hide genetic variation for many generations. The study of nuclear organization shows that chromosome and genome position relates to imprinting in F1 hybrids, with peripheral genomes tending to be expressed preferentially. In some inbred, polyploid hybrids, such as Triticale (a wheat x rye hybrid), treatment with the demethylation agent azacytidine releases hidden variation, which was perhaps lost because of imprinting phenomena.
Epigenetics Regulation and Epigenetic Drugs
Cells of a multicellular organism are genetically homogeneous but structurally and functionally heterogeneous owing to the differential expression of genes. Many of these differences in gene expression arise during development and are subsequently retained through mitosis. Stable alterations of this kind are said to be 'epigenetic', because they are heritable in the short term but do not involve mutations of the DNA itself. Research over the past few years has focused on two molecular mechanisms that mediate epigenetic phenomena: DNA methylation and histone modifications. Here, we review advances in the understanding of the mechanism and role of DNA methylation in biological processes. Epigenetic effects by means of DNA methylation have an important role in development but can also arise stochastically as animals age. Identification of proteins that mediate these effects has provided insight into this complex process and diseases that occur when it is perturbed. External influences on epigenetic processes are seen in the effects of diet on long-term diseases such as cancer. Thus, epigenetic mechanisms seem to allow an organism to respond to the environment through changes in gene expression. The extent to which environmental effects can provoke epigenetic responses represents an exciting area of future research.
Biotechnology and Medicine
Biotechnology is a very huge field and its applications are used in a variety of fields of science such as agriculture and medicine. The pasture of biotechnology, genetic engineering, has introduced techniques like gene therapy, recombinant DNA technology and polymerase chain retort which employ genes and DNA molecules to make a diagnosis diseases and put in new and strong genes in the body which put back the injured cells. There is huge scope in biotechnology which are live their part in the future of medicine.
Molecular evolution is the area of evolutionary biology that studies evolutionary change at the level of the DNA sequence. It includes the study of rates of sequence change, relative importance of adaptive and neutral changes, and changes in genome structure. Molecular biology is the branch of science that involves analysis of the structure, function and physiological role of various cellular biomolecules. Molecular biology basically involves molecular analysis of biological functions. Molecular biology follows a multidisciplinary approach of studying biomolecules by integrating the knowledge of biochemistry, genetics, cell biology and biophysics. Molecular biological studies provide insights into the various cellular and subcellular molecular mechanisms viz. DNA replication, transcription, translation, protein folding, DNA recombination etc. Contemporary molecular biology research incorporates the molecular analysis of the functioning of novel drugs and also the identification of specified molecular targets which can be exploited for pharmaceutical and medical applications.
Genetics is a discipline of the Biological sciences that studies personal traits the human or living organism inherit from its ancestors through genes and Embryology studies the development of the fertilized embryo from the ovum to the fetus stage. Human genetics is the study of inheritance in human beings. Human characteristics are inherited from parents to offspring in discrete unites called genes. Genes consist of specific information coded in the chromosome that consists of segments of chromosomes. Human genetics includes a variety of overlapping fields like classical, molecular, biochemical, population, developmental, clinical and cytogenetics.
Epigenetics Research: Open Access is a quarterly, peer-reviewed, open access journal, which is aimed to showcase all the relevant research information on epigenetics and its related fields for the effective contribution in medical sciences.
The journal represents itself as the timely resource on epigenetic studies and covers a wide range of research scope in the said field of study. The journal has covered most of the key aspects in epigenetics, which includes various molecular processes associated with stable heritable traits, related mechanisms of gene expression, nuclear organization, DNA methylation, histone modification, chromatin biology, molecular biology, chemical tags, epitranscriptome, genome reorganization, hybrid plants, genomes simulation, epigenetics regulation, functional genomics, disease genetics, ecological epigenetics, grafted plants, gene silencing, epigenetic drugs, biotechnology and medicine, genetics and medicine, gene technology, molecular biology, evolutionary history, molecular evolution, genetic adaptation, human genetics, gene activity, and gene variation. In terms of quality, the journal is resolute to uphold a high standard in both facts and ethics. Accuracy and authenticity in the scientific reports of present journal are conserved above all nominal needs of the time.
The journal emphasizes most for the original contributions from the author. However, review, short communication, case studies and commentary articles are also treasured here, provided the article is novel and authentic one. The determination criteria for such novel findings are solely accomplished by the process of critical peer-review. The journal is also blessed with the assistance from a well-constructed editorial board, containing highly reputed personnel in terms of experience as well as expertise in the field of core epigenetics. To maintain the world-class quality in workflow, the journal put forwards the topic specific segregation of responsibilities through effective involvement of section editors and guest editors. Epigenetics Research: Open Access journal is encouraging authors to contribute relevant research works within the scope of the journal and also to assist in the development of knowledge base on epigenetic studies.
Author may submit their manuscripts through the journal's online submission and tracking system which is located at Editorial Manager or as an e-mail attachment at [email protected] .