Biological Sciences
Genome
The genome refers to the complete set of genetic material within an organism, including all of its genes and non-coding sequences. It is encoded in the DNA or RNA of an organism and contains the instructions for the development, functioning, and reproduction of that organism. Understanding the genome is crucial for studying genetics, evolution, and various biological processes.
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11 Key excerpts on "Genome"
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Genome Chaos
Rethinking Genetics, Evolution, and Molecular Medicine
- Henry H. Heng(Author)
- 2019(Publication Date)
- Academic Press(Publisher)
With this historical basis, clearly, the meaning of the word “Genome” should include both the whole genomic basis (chromosomes) and units of heredity (genes). It is important to note that Winkler hoped to use this expression to link the Genome to the foundation of the species (the whole Genome system). Similarly, the Genome was referred to as “a set of chromosomes” before the establishment of molecular genetics. Unfortunately, during the gene era and the dominance of the gene-centric view, the importance of the chromosome as a system organizer was ignored. The chromosome became primarily considered as a vehicle for genes. The term “Genome” has been applied specifically to mean the complete set of DNA molecules of a cell (both the nuclear Genome and organelle Genome that include the mitochondria and chloroplasts of a given species). Gradually, the “chromosome” portion of the Genome has been chipped away; in practice, the definition of the term “Genome” is now relegated to merely “a collection of genes,”or “the whole of organism’s hereditary information encoded in its DNA (or, for some viruses, RNA).” Here are some representative examples: A Genome is an organism's complete set of DNA, including all of its genes. Each Genome contains all of the information needed to build and maintain that organism. US National Library of Medicine (NIH) https://ghr.nlm.nih.gov/primer/hgp/Genome The Genome of an organism is the whole of its hereditary information encoded in its DNA (or, for some viruses, RNA). This includes both the genes and the non-coding sequences of the DNA. https://simple.wikipedia.org/wiki/Genome A Genome is the full set of instructions needed to make every cell, tissue, and organ in your body. Almost every one of your cells contains a complete copy of these instructions, written in the four letter language of DNA (A, C, T, and G). http://www.broadinstitute.org/education/glossary/Genome All the genetic material in the chromosomes of a particular organism - eBook - PDF
- Brian K. Nunnally(Author)
- 2005(Publication Date)
- CRC Press(Publisher)
157 7 DNA Sequencing for Genome Analysis Jeffrey P. Tomkins, Todd C. Wood, and Dorrie Main CONTENTS Introduction ........................................................................................................... 157 EST Sequencing .................................................................................................... 158 Development of Sequence-Ready Genomic Frameworks .................................... 159 Whole-Genome Sequencing .................................................................................. 163 Conclusion ............................................................................................................. 172 References .............................................................................................................. 173 INTRODUCTION Genome analysis has developed over time through the various fields of genetics, cytogenetics, biophysics, biochemistry, and molecular biology. Each of these disci-plines has contributed to our understanding of the nature of inheritance and how genes contribute toward an organism’s phenotype. We may briefly define a Genome as the complete set of DNA instructions for a given organism, organized into chromosomal units and containing the genes which code for the organism’s traits. As a result, historically separate fields of biological study find union within the arena of genomics. Deciphering the genetic code or precise order of nucleotides represents one of the most fundamental steps in genomic analysis. Genome sequenc-ing in its various forms serves as a foundation for analyses of transcription, gene regulation, chromosome structure, genetic pathologies, biochemical pathways, and evolution. There are a number of approaches to Genome sequencing that may be taken depending on the size of the Genome, its complexity, and the availability of funds. - eBook - PDF
DNA
Promise and Peril
- Linda L. McCabe, Edward R.B. McCabe(Authors)
- 2008(Publication Date)
- University of California Press(Publisher)
So, then, what is genomics? The origin of the word Genome is described by Merriam-Webster’s Collegiate Dictionary as deriving from the German genom, which represents a compounding of gen (gene) and -om (chro-mosome). Its meaning has evolved from one complete set of chromo-somes to all of the genes on those chromosomes, or one complete set of genes. More recently, with the Human Genome Project relying so heav-ily on the sequencing of the entire DNA complement of the Genome, the term has come to include in its meaning the complete set of DNA in an organism, which in humans represents approximately 3 billion base pairs of DNA. Nearly every cell in the body contains that individual’s Genome. Cells are quite complex and are not just a bag of liquid in which the chromo-somal DNA and proteins X oat around. A eukaryote—the class of life to which humans belong—is de W ned as any organism in which the cells are partitioned into subcellular organelles, or compartments, including a membrane-bound nucleus. Two of these organelles contain DNA: the nucleus and the mitochondria. For humans, as well as any eukaryote with a nucleus and mitochondria, the Genome includes two types of genomic DNA, and it may be thought of as containing two separate and distinct Genomes. The larger of these Genomes, and the one usually thought of as the human Genome, is the nuclear Genome. Except for fully developed eggs or sperm, which are the reproductive, or germ, cells and have only one of each pair, twenty-three chromosomes (chapter 11), the typical human nucleus of a nongerm, or somatic, cell contains a pair of each chromosome, or a total of forty-six nuclear chromosomes. The smaller of the two human Genomes, or subGenomes—only about 16,600 base pairs (bp) in length—is the mitochondrial Genome. - eBook - PDF
- Satya, Pratik(Authors)
- 2020(Publication Date)
- NEW INDIA PUBLISHING AGENCY (NIPA)(Publisher)
An Overview of Genomics 1 Chapter Process of life of an organism is defined, driven and depicted by its genetic constitution, or the Genome . A Genome is a collection of genetic material present in the cell as nuclear or organelle DNA. To be precise, it is the sum of all single copy genetic materials present in the cellular subcompartments. Thus a diploid organism having two copies of each chromosome contains genetic material constituting two copies of the Genome, while a gamete of the same organism contains single copy of the same. Organelle Genome is shared by chloroplast and mitochondria. In these two organelle genetic material is present in single copy per organelle, although many copies of organelle ensures that a cell harbours many copies of mitochondrial or plastid Genome. Unraveling the structure and function of the Genome is, therefore, the central objective of biological science. Technologies that would help to understand the basis of genetic, biochemical and physiological processes are pivotal to execute the knowledge for the betterment of mankind and environment. The foundation of the principles of behaviour and perpetuation of an organism’s phenotypic expression was laid by an Austrian monk Gregor Johan Mendel, who in 1865 showed - 1 - 2 Genomics and Genetic Engineering that the pattern of inheritance and expression of a phenotypic character can be explained by simple probabilistic rules. This led to development of a new biological science called ‘genetics’, the study of heredity and variation. The determinants of the phenotypic expressions were termed as ‘ elements ’ by Mendel, which later became famous as ‘ gene ’, a term coined by Johanssen in 1909. In essence, Mendel’s laws showed that the phenotypic characters are governed by genes, which are present in alternate forms called alleles. During gamete formation these alleles segregate, unite in progeny through fertilization and resegregate during gamete formation in the progeny. - No longer available |Learn more
- (Author)
- 2014(Publication Date)
- University Publications(Publisher)
________________________ WORLD TECHNOLOGIES ________________________ Chapter- 1 Genomics Genomics is a discipline in genetics concerning the study of the Genomes of organisms. The field includes intensive efforts to determine the entire DNA sequence of organisms and fine-scale genetic mapping efforts. The field also includes studies of intragenomic phenomena such as heterosis, epistasis, pleiotropy and other interactions between loci and alleles within the Genome. In contrast, the investigation of the roles and functions of single genes is a primary focus of molecular biology or genetics and is a common topic of modern medical and biological research. Research of single genes does not fall into the definition of genomics unless the aim of this genetic, pathway, and functional information analysis is to elucidate its effect on, place in, and response to the entire Genome's networks. For the United States Environmental Protection Agency, the term genomics encompasses a broader scope of scientific inquiry associated technologies than when genomics was initially considered. A Genome is the sum total of all an individual organism's genes. Thus, genomics is the study of all the genes of a cell, or tissue, at the DNA (genotype), mRNA (transcriptome), or protein (proteome) levels. History The first Genomes to be sequenced were those of a virus and a mitochondrion, and were done by Fred Sanger. His group established techniques of sequencing, Genome mapping, data storage, and bioinformatic analyses in the 1970-1980s. A major branch of genomics is still concerned with sequencing the Genomes of various organisms, but the knowledge of full Genomes has created the possibility for the field of functional genomics, mainly concerned with patterns of gene expression during various conditions. The most important tools here are microarrays and bioinformatics. Study of the full set of proteins in a cell type or tissue, and the changes during various conditions, is called proteomics. - eBook - PDF
Postgenomics
Perspectives on Biology after the Genome
- Sarah S. Richardson, Hallam Stevens, Sarah S. Richardson, Hallam Stevens(Authors)
- 2015(Publication Date)
- Duke University Press Books(Publisher)
Tom Misteli writes that “the deceivingly simple question of how Genomes function has become the Holy Grail of modern biology,” 5 and, indeed, it is precisely the pursuit of that question that now demands a reconception of the Genome as an entity simultaneously stable, reactive, and plastic. Genes, Genomes, and Genetics Ever since the term “Genome” was first introduced, it has been widely un-derstood as the full ensemble of genes with which an organism is equipped. Even in the era of molecular biology, after the Genome had been recast as the book of life, written in a script of nucleotides, it was not supposed that the instructions carried by the Genome were uniformly distributed along the three billion bases of dna . Rather, they were assumed to be con-centrated in the units that “contain the basic information about how a human body carries out its duties from conception until death,” that is, our genes. 6 To be sure, it has become notoriously difficult to fix the meaning of the term “gene,” but, in practice, by far the most common usage that has prevailed since the beginnings of molecular biology is in reference to protein-coding sequences. Even if these protein-coding sequences make up only a relatively small fraction of our Genomes, they continue to de-fine the subject of genetics. As Collins wrote in 1999, these “80,000 or so human genes are scattered throughout the Genome like stars in the galaxy, with genomic light-years of noncoding dna in between.” However vast, the “noncoding dna in between” was not the object of interest. Until the early days of the new century, the primary focus of the hgp remained, as it had been from its inception, on the genes, on compiling a comprehensive cata-log of protein-coding sequences. Collins predicted that the full sequence of the first human Genome would be completed by 2003, and he anticipated that it would produce a catalogue of roughly 80,000 genes. - eBook - PDF
- Gerald Karp, Janet Iwasa, Wallace Marshall(Authors)
- 2021(Publication Date)
- Wiley(Publisher)
434 CHAPTER 10 The Nature of the Gene and the Genome 10.1 The Concept of a Gene as a Unit of Inheritance Our concept of the gene has undergone a remarkable evolution as biologists have learned more and more about the nature of inheritance. The earliest studies revealed genes to be discrete factors that were retained throughout the life of an organism and then passed on to each of its progeny. Over the following century, these hereditary factors were shown to reside on chro- mosomes and to consist of DNA, a macromolecule with extraor- dinary properties. Figure 10.1 provides an overview of some of the early milestones along this remarkable journey of discov- ery, capped by the description of the double helical structure of DNA in 1953. In the decades that followed this turning point, a major branch of molecular biology began to focus on the Genome, the collective body of genetic information that is pres- ent in a species. A Genome contains all of the genes required to “build” a particular organism. During the past decade or so, col- laborations by laboratories around the world have uncovered the complete nucleotide sequences of many different Genomes, including that of our own species and the chimpanzee, our clos- est living relative. For the first time in human history, we have the means to reconstruct the genetic path of human evolution by comparing the corresponding regions of the Genome in related organisms. We can learn which regions of our Genome have been duplicated and which have been lost since our split from a common ancestor; we can observe which nucleotides in a particular gene or regulatory region have undergone change and which have remained constant; most importantly, we can infer which parts of our Genome have been subject to natural selection and which have been free to drift randomly as time has passed. - eBook - PDF
Evolution
The First Four Billion Years
- Michael Ruse, Joseph Travis, Michael Ruse, Joseph Travis(Authors)
- 2011(Publication Date)
- Belknap Press(Publisher)
Evolution of the Genome Brian Charlesworth and Deborah Charlesworth Changes in the genetic information stored in the Genome are the ultimate ba-sis of evolution. Much of evolutionary biology involves studies of the ob-servable characteristics of organisms and the heritable changes on which their evolution depends. But Genomes themselves also evolve. The Genomes of contemporary species reflect billions of years of evolution, and they are still evolving, often surprisingly rapidly. Data on Genome organization have been accumulating since the era of classical genetics, starting with the dis-covery that genes are carried in the chromosomes of cells and can be mapped genetically and physically to specific locations in the chromosomes. The later discovery that chromosomes are made of nucleic acids has led to increasingly fine-scale physical maps of Genomes, most recently the complete sequences of (parts of the) Genomes of (single individuals from) increasing numbers of species, now including several species of animals (e.g., C. ele-gans Genome Sequencing Project 1999; International Human Genome Se-quencing Consortium 2001; Mouse Genome Sequencing Project 2002; Drosophila 12 Genomes Consortium 2007) and plants (e.g., The Arabidop-sis Genome Initiative 2001), as well as over 80 bacterial species (Sharp et al. 2005). Genomes of many more species will certainly be sequenced in the next few years, given the rapid advances being made in sequencing tech-nology. This information has generated renewed interest in Genome evolution, which can now be described in unprecedented detail, and two major books have recently been devoted to it (Burt and Trivers 2006; Lynch 2007). With such extensive data in hand, we can hope to identify some of the main pro-cesses involved in Genome evolution. Models of many of these processes ex-ist, and some general themes are clear. - Amit Kumar Tyagi(Author)
- 2023(Publication Date)
- Wiley-Scrivener(Publisher)
Later, Human Genome Project and All of Us project are discussed. Few case studies are added to put light on the methods to decipher the meanings hidden in genomic sequences in humans. The major contribution of this study is to bring awareness about the cruciality of the concept of genomics in the evolving world of new tech- nology for medical and technical aspects. Keywords: Genome, personalized medicine, genomic counseling, human Genome project (HGP), cancer therapy, diabetes type 2 2.1 Introduction Genomics is the branch of molecular biology concerned with the struc- ture, function, evolution, and mapping of Genomes. In a broad sense, it *Corresponding author: [email protected] 20 Privacy Preservation of Genomic and Medical Data is also referred to as functional genomics, which aims to characterize the function of every genomic element of an organism by using Genome-scale assays, such as Genome sequencing, transcriptome profiling, and proteom- ics. There is various application of genomics such as finding relation or association between genotypes and phenotypes, discovering biomarkers for separating patient based on gender, ethnicity, risk, disease state, etc., predicting the function of genes, and charting the biochemically activated genomics region, such as transcriptional enhancer [1, 2]. Proteomics is the study of proteins and their function within cells, tis- sues, and organisms. Proteins are essential for cell structure and function and play a central role in many biological processes, including metabolism, growth and responses to stimuli. Proteomics aims to identify, quantify, and analyze all of the proteins expressed by an organism, and to understand the relationships between proteins, their functions, and their interactions with other cellular components. Genes reside within chromosomes and are responsible for traits of humans. Figure 2.1 gives a snapshot for under- standing the positions of genes and proteins [3].- eBook - ePub
- Peter Glasner, Paul Atkinson, Helen Greenslade, Peter Glasner, Paul Atkinson, Helen Greenslade(Authors)
- 2006(Publication Date)
- Routledge(Publisher)
‘Gene’ was coined by the Danish biologist Wilhelm Johannsen in 1909 as a ‘little word’ to refer to the unit of heredity (Keller 2000: 2). Using the gene as the unit of analysis, genetics attempts to explain both the constancy of inheritance and its variation (Magner 1979). By adding ‘ome’ to ‘gene’ in 1920, Hans Winkler created the word ‘Genome’ (or genom), defined as ‘the haploid chromosome set, which, together with the pertinent protoplasm, was said to specify the material foundation of the species’ (Lederberg and McCray 2001). There are various interpretations of the etymological source of the suffix ‘ome’ in Genome. In one version, it is attributed to the ‘ome’ from chromosome (coloured body). However, the oldest ‘ome’ in the dictionary is the ‘biome’, an ecological community of organisms and environments, which was coined in 1916 (Mennella 2003). In this, and in other ‘ome’ words which predated ‘chromosome’, such as rhizome, phyllome, thallome and tracheome, ‘ome’ signifies the collectivity of units of a system, where the etymological origin is the Greek ‘ oma ’, signifying condition, or having the nature of. A third interpretation is from the Sanskrit concept of OM which ‘signifies fullness, completeness. . . it encompasses the entire universe’ in its limitlessness (Lederberg and McCray 2001). In 1953, James Watson and Francis Crick published their famous paper proposing a double-helical structure for the biomolecule DNA (deoxyribonucleic acid), based on Rosalind Franklin’s X-ray crystallography images from the laboratory of Maurice Wilkins. Through the influence of Watson and Crick’s model, the concept and materity of the gene became identified with the biomolecule DNA. The subsequent development of methods for the direct analysis and manipulation of DNA created the technological conditions of possibility for the focus of study to shift from individual genes to whole Genomes (see Wheale and McNally 1988) - eBook - ePub
Molecular Medicine
An Introduction
- Jens Kurreck, Cy Aaron Stein(Authors)
- 2015(Publication Date)
- Wiley-Blackwell(Publisher)
- Structural genomics aims at solving three-dimensional protein structures via a high-throughput approach. This is achieved by automation of many steps of the pipeline, such as protein expression and purification, the optimization of crystallization conditions, data acquisition, and structure determination.
The discovery of the double helix structure of DNA is widely acknowledged as the greatest achievement in molecular biology in the twentieth century. The elucidation of the sequence of the human Genome at the beginning of the twenty-first century is considered to be another major breakthrough, one which will revolutionize our current understanding of human biology and pathophysiology. This chapter will describe the general principles behind the sequencing of large Genomes (Section 7.1) and the lengthy path that led to the deciphering of the human Genome, a path driven mainly by the publicly funded HGP and the company Celera (Section 7.2). Several follow-up projects aim at investigating genetic variations (International HapMap Project, 1000 Genomes Project and Personal Genome Project) and at identifying all the functional elements in the human Genome (ENCODE). A major challenge of current research is to elucidate the function of the gene products (usually proteins) encoded in the human Genome. These approaches will be described in Section 7.3, which discusses functional genomics and proteomics.7.1 Whole Genome Sequencing
Whole Genome sequencing is used to determine the complete genomic DNA sequence of an organism. Currently, however, most completely deciphered Genomes are microbial. In contrast, for the larger Genomes of eukaryotes, analysis of more than 95% of the Genome is usually considered to be whole or full Genome sequencing.The first free-living organism to have its entire Genome sequenced was the bacterium Haemophilus influenzae, in 1995. This Genome consists of a single circular DNA molecule of approximately 1.8 million base pairs. One year later, the 12 million base pairs of the baker's yeast Saccharomyces cerevisiae was the first eukaryotic Genome sequence to be released. In 1998, the first sequence of a multicellular eukaryote, Caenorhabditis elegans
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