Genome Plasticity in Health and Disease

By Academic Press

Genome Plasticity in Health and Disease provides a fully up-to-date overview on genome plasticity and its role in human physiology and disease. Following an introduction to the field, a diverse range of chapters cover genomic and epigenomic analysis and the use of model organisms and genomic databases in studies. Specific molecular and biochemical mechanisms of genome plasticity are examined, including somatic variants, De Novo variants, founder variations, isolated populations dynamics, copy-number variations, mobile elements, DNA methylation, histone modifications, transcription factors, non-coding RNAs, telomere dynamics and RNA editing.

Later chapters explore disease relevance for cancer, as well as cardiovascular, neuropsychiatric, inflammatory, and endocrine disease, and associated pathways for drug discovery.

• Examines the role of genome plasticity across a range of disease types, from cardiovascular disease, to cancer and neuropsychiatric disorders
• Adopts an interdisciplinary approach, with expert contributions across the spectrum of basic science and disease relevance to drug discovery

• Language: English
• Publisher: Academic Press
• Release date: Apr 8, 2020
• ISBN: 9780128178201

Book preview

Genome Plasticity in Health and Disease

Editors

Diego A. Forero

Laboratory of NeuroPsychiatric Genetics, Biomedical Sciences Research Group, School of Medicine, Universidad Antonio Nariño, Bogotá, Colombia

PhD Program in Health Sciences, School of Medicine, Universidad Antonio Nariño, Bogotá, Colombia

School of Health Sciences, Fundación Universitaria del Área Andina, Bogotá, Colombia

George P. Patrinos

Department of Pharmacy, University of Patras School of Health Sciences, Patras, Greece

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates

Zayed Center of Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates

Table of Contents

Cover image

Title page

Copyright

Contributors

Chapter 1. Impact of genome plasticity on health and disease

1. Introduction

2. Plasticity of the human genome

3. Plasticity of the human genome and diseases

4. Conclusions

Section 1. Plasticity of the human genome

Chapter 2. Overview of the human genome

1. Introduction

2. The human genome

3. Human genomics and the future of healthcare

4. Conclusion

Chapter 3. Methods for epigenomic analyses: DNA methylation

1. Epigenetics

2. DNA methylation

3. DNA treatment prior to DNA methylation analysis

4. Methods for analysis of DNA methylation

5. Challenges

6. Conclusions

Chapter 4. Genomic databases

1. Introduction

2. Reference genomes, genes, and annotations

3. Searching genomic databases

4. Genomic variations

5. Perspectives

Chapter 5. Genomic variability: germline, somatic, and de novo variants

1. Introduction

2. Overview of germline variation and genetic architecture

3. De novo mutations

4. Somatic mosaicism

5. Conclusions

Chapter 6. Founder variations in isolated populations

1. What is a population isolate?

2. Founder effects and linkage disequilibrium

3. Genetic risk variant detection in isolated populations

4. Mendelian disorders in isolated populations

5. Complex disorders in isolated populations

6. Conclusion

Chapter 7. DNA methylation

1. Introduction

2. Mechanisms of DNA methylation and demethylation

3. DNA methylation in human diseases

4. Quantitative detection of DNA methylation and its derivatives

5. Concluding remarks

Chapter 8. Chromatin, histones, and histone modifications in health and disease

1. Introduction

2. Phenotypic status of plasticity

3. Epigenetics phenomenon

4. Epigenetic factors in plasticity and disease

5. Epigenetics, nutrition, and disease

6. Perspective and concluding remarks

Chapter 9. Networks of transcription factors

1. Introduction

2. Transcription factor-binding site prediction

3. Probabilistic transcription factor networks

4. Regulation by transcription factors and beyond

5. Concluding remarks

Chapter 10. Centromere and telomere dynamics in humans

1. Centromeres

2. Centromeres are regions of highly specialized chromatin

3. The evolution of centromeric DNA

4. Centromeric nucleosome

5. Centromeric transcription

6. Centromere genomics

7. Cohesin

8. Centromere abnormalities

9. Telomeres

10. The telomerase enzyme

11. Regulation of the function of telomerase

12. Transcriptional regulation of TERT

13. Posttranslational regulation of TERT

14. Epigenetic regulation

15. Environmental factors

16. Telomere length

17. Determinants of telomere length

18. Telomere-targeted therapy

19. Future perspectives

Section 2. Human genome plasticity and diseases

Chapter 11. Genome plasticity and cardiovascular diseases

1. Genetics of cardiovascular diseases

2. Genome-wide association studies

3. Epigenetics and CVD phenotype variability

Chapter 12. Genome plasticity and neuropsychiatric disorders

1. Introduction

2. Neuropsychiatric genomics

3. Molecular genomics of Parkinson's disease

4. MicroRNAs and Alzheimer's disease

Chapter 13. Genome plasticity and endocrine diseases

1. Introduction of genome research in medicine

2. Introduction of endocrine diseases

3. Genome plasticity and T2DM

4. Genome plasticity and AITD

5. Conclusion

Chapter 14. Implications of genome plasticity for drug development

1. Drug development

2. Epigenetic mechanisms in pharmacogenetics

3. New molecular techniques in drug development

4. Conclusion

Index

Copyright

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Contributors

Ibitayo Ademuwagun

Covenant University Bioinformatics Research (CUBRe), Covenant University, Ota, Ogun State, Nigeria

Department of Biochemistry, Covenant University, Ota, Ogun State, Nigeria

R. Akika,     Department of Pharmacology and Toxicology, Faculty of Medicine, American University of Beirut, Beirut, Lebanon

Ayyappan Anitha,     Dept. of Neurogenetics, Institute for Communicative and Cognitive Neurosciences (ICCONS), Shoranur, Palakkad, Kerala, India

Olufemi Aromolaran

Dept. of Computer and Information Science, Covenant University, Ota, Ogun State, Nigeria

Covenant University Bioinformatics Research (CUBRe), Covenant University, Ota, Ogun State, Nigeria

Z. Awada,     Department of Pharmacology and Toxicology, Faculty of Medicine, American University of Beirut, Beirut, Lebanon

Oluwadurotimi Aworunse,     Department of Biological Sciences, Covenant University, Ota, Ogun State, Nigeria

Eunice Babatunde

Covenant University Bioinformatics Research (CUBRe), Covenant University, Ota, Ogun State, Nigeria

Department of Biochemistry, Covenant University, Ota, Ogun State, Nigeria

Chetan Bakshi,     Department of Experimental Medicine and Biotechnology, Postgraduate Institute of Medical Education and Research, Chandigarh, Chandigarh, India

Gabriela Chavarriá-Soley

Centro de Investigacion en Biologia Celular y Molecular, Universidad de Costa Rica, San Jose, Costa Rica

Escuela de Biologia, Universidad de Costa Rica, San Jose, Costa Rica

Javier Contreras,     Centro de Investigacion en Biologia Celular y Molecular, Universidad de Costa Rica, San Jose, Costa Rica

Omoremime Dania,     Department of Biochemistry, Covenant University, Ota, Ogun State, Nigeria

Veena Dhawan,     Department of Experimental Medicine and Biotechnology, Postgraduate Institute of Medical Education and Research, Chandigarh, Chandigarh, India

Titilope Dokumu

Covenant University Bioinformatics Research (CUBRe), Covenant University, Ota, Ogun State, Nigeria

Department of Biological Sciences, Covenant University, Ota, Ogun State, Nigeria

Diego A. Forero

Laboratory of NeuroPsychiatric Genetics, Biomedical Sciences Research Group, School of Medicine, Universidad Antonio Nariño, Bogotá, Colombia

PhD Program in Health Sciences, School of Medicine, Universidad Antonio Nariño, Bogotá, Colombia

School of Health Sciences, Fundación Universitaria del Área Andina, Bogotá, Colombia

Yeimy González-Giraldo

Departamento de Nutrición y Bioquímica, Facultad de Ciencias, Pontificia Universidad Javeriana, Bogotá D.C., Colombia

Center for Psychosocial Studies for Latin America and the Caribbean, School of Psychosocial Therapies, Universidad Antonio Nariño, Bogotá, Cundinamarca, Colombia

Sanjay Gupta

Epigenetics and Chromatin Biology Group, Gupta Laboratory, Cancer Research Institute, Advanced Centre for Treatment, Research and Education in Cancer (ACTREC), Tata Memorial Centre, Kharghar, Navi Mumbai, Maharashtra, India

Homi Bhabha National Institute, Training School Complex, Mumbai, Maharashtra, India

Enrique Hernández-Lemus

Computational Genomics Division, National Institute of Genomic Medicine, Tlalpan, Mexico City, Mexico

Center for Complexity Sciences, Univesidad Nacional Autónoma de México, Coyoacan, Mexico City, Mexico

James R.A. Hutchins,     Institute of Human Genetics, CNRS and Univ Montpellier, Montpellier, France

Franklyn Iheagwam

Department of Biochemistry, Covenant University, Ota, Ogun State, Nigeria

Covenant University Public Health & Wellbeing Research Cluster, Covenant University, Ota, Ogun State, Nigeria

Itunuoluwa Isewon

Dept. of Computer and Information Science, Covenant University, Ota, Ogun State, Nigeria

Covenant University Bioinformatics Research (CUBRe), Covenant University, Ota, Ogun State, Nigeria

Marcelo A. Kauffman,     Hospital JM Ramos Mejia, Neurogenetics Unit-CONICET, Buenos Aires, Argentina

Xingang Li,     School of Medical and Health Sciences, Edith Cowan University, Joondalup, Western Australia, Australia

Sandra Lopez-Leon,     Global Drug Development Novartis Pharmaceuticals Corporation, One Health Plaza, East Hanover, NJ, United States

Olawole Obembe,     Department of Biological Sciences, Covenant University, Ota, Ogun State, Nigeria

Olubanke Ogunlana

Covenant University Bioinformatics Research (CUBRe), Covenant University, Ota, Ogun State, Nigeria

Department of Biochemistry, Covenant University, Ota, Ogun State, Nigeria

Covenant University Public Health & Wellbeing Research Cluster, Covenant University, Ota, Ogun State, Nigeria

Jelili Oyelade

Dept. of Computer and Information Science, Covenant University, Ota, Ogun State, Nigeria

Covenant University Bioinformatics Research (CUBRe), Covenant University, Ota, Ogun State, Nigeria

Olusola Oyesola,     Department of Biological Sciences, Covenant University, Ota, Ogun State, Nigeria

George P. Patrinos

Department of Pharmacy, University of Patras School of Health Sciences, Patras, Greece

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, Abu Dhabi, United Arab Emirates

Zayed Center of Health Sciences, United Arab Emirates University, Al-Ain, Abu Dhabi, United Arab Emirates

Josefina Perez Maturo,     Hospital JM Ramos Mejia, Neurogenetics Unit-CONICET, Buenos Aires, Argentina

Mudasir Rashid

Epigenetics and Chromatin Biology Group, Gupta Laboratory, Cancer Research Institute, Advanced Centre for Treatment, Research and Education in Cancer (ACTREC), Tata Memorial Centre, Kharghar, Navi Mumbai, Maharashtra, India

Homi Bhabha National Institute, Training School Complex, Mumbai, Maharashtra, India

Henriette Raventoś

Centro de Investigacion en Biologia Celular y Molecular, Universidad de Costa Rica, San Jose, Costa Rica

Escuela de Biologia, Universidad de Costa Rica, San Jose, Costa Rica

Leon Ruiter-Lopez,     West Morris Central, Chester, NJ, United States

Valeria Salinas,     Hospital JM Ramos Mejia, Neurogenetics Unit-CONICET, Buenos Aires, Argentina

Sanket Shah

Epigenetics and Chromatin Biology Group, Gupta Laboratory, Cancer Research Institute, Advanced Centre for Treatment, Research and Education in Cancer (ACTREC), Tata Memorial Centre, Kharghar, Navi Mumbai, Maharashtra, India

Homi Bhabha National Institute, Training School Complex, Mumbai, Maharashtra, India

Xuerui Tan,     The First Affiliated Hospital, Shantou University Medical College, Shantou, Guangdong, China

Daoquan Tang

Jiangsu Key Laboratory of New Drug Research and Clinical Pharmacy, School of Pharmacy, Xuzhou Medical University, Xuzhou, Jiangsu, China

Department of Pharmaceutical Analysis, School of Pharmacy, Xuzhou Medical University, Xuzhou, Jiangsu, China

Ismail Thanseem,     Dept. of Neurogenetics, Institute for Communicative and Cognitive Neurosciences (ICCONS), Shoranur, Palakkad, Kerala, India

Hugo Tovar,     Computational Genomics Division, National Institute of Genomic Medicine, Tlalpan, Mexico City, Mexico

Martha L. Trujillo,     School of Sciences, Universidad Antonio Nariño, Bogotá, Colombia

Mahesh Mundalil Vasu,     Dept. of Neurogenetics, Institute for Communicative and Cognitive Neurosciences (ICCONS), Shoranur, Palakkad, Kerala, India

Tripti Verma

Epigenetics and Chromatin Biology Group, Gupta Laboratory, Cancer Research Institute, Advanced Centre for Treatment, Research and Education in Cancer (ACTREC), Tata Memorial Centre, Kharghar, Navi Mumbai, Maharashtra, India

Homi Bhabha National Institute, Training School Complex, Mumbai, Maharashtra, India

Liang Wang

Department of Bioinformatics, School of Medical Informatics and Engineering, Xuzhou Medical University, Xuzhou, Jiangsu, China

Jiangsu Key Laboratory of New Drug Research and Clinical Pharmacy, School of Pharmacy, Xuzhou Medical University, Xuzhou, Jiangsu, China

Wei Wang

School of Medical and Health Sciences, Edith Cowan University, Joondalup, Western Australia, Australia

Department of Bioinformatics, School of Medical Informatics and Engineering, Xuzhou Medical University, Xuzhou, Jiangsu, China

The First Affiliated Hospital, Shantou University Medical College, Shantou, Guangdong, China

School of Public Health, Shandong First Medical University (Shandong Academy of Medical Sciences), Tai'an, Shandong, China

Talia Wegman-Ostrosky,     Dirección de Investigación, Instituto Nacional de Cancerología. Ciudad de México. México

N.K. Zgheib,     Department of Pharmacology and Toxicology, Faculty of Medicine, American University of Beirut, Beirut, Lebanon

Chapter 1

Impact of genome plasticity on health and disease

Diego A. Forero ¹ , ² , ⁷ , Yeimy González-Giraldo ³ , and George P. Patrinos ⁴ , ⁵ , ⁶       ¹ Laboratory of NeuroPsychiatric Genetics, Biomedical Sciences Research Group, School of Medicine, Universidad Antonio Nariño, Bogotá, Colombia      ² PhD Program in Health Sciences, School of Medicine, Universidad Antonio Nariño, Bogotá, Colombia      ³ Center for Psychosocial Studies for Latin America and the Caribbean, School of Psychosocial Therapies, Universidad Antonio Nariño, Bogotá, Cundinamarca, Colombia      ⁴ Department of Pharmacy, University of Patras School of Health Sciences, Patras, Greece      ⁵ Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, Abu Dhabi, United Arab Emirates      ⁶ Zayed Center of Health Sciences, United Arab Emirates University, Al-Ain, Abu Dhabi, United Arab Emirates      ⁷ School of Health Sciences, Fundación Universitaria del Área Andina, Bogotá, Colombia

Abstract

In recent years, it has been shown that the human genome has multiple mechanisms of plasticity to regulate gene and protein expression. Multiple large genomic, transcriptomic, and epigenomic experiments have shown multiple layers of complexity in the organization of the human genome and in the regulation of its function. Mechanisms of genome plasticity include DNA methylation, noncoding RNAs, DNA variants, chromatin, and histone modifications. Genome plasticity has been associated with multiple human diseases and related phenotypes. Human genomics has led to large advances in a deeper understanding of the etiology and pathophysiology of human diseases. Identification of novel associations of mechanisms of genome plasticity with human diseases would lead to a deeper understanding of their pathophysiology and etiology to develop future diagnostic and therapeutic strategies with better performance for multiple human diseases.

Keywords

Epigenomics; Genome plasticity; Human diseases; Human genomics; Transcriptomics

1. Introduction

As part of the Translational and Applied Genomics book series, in this book we provide a comprehensive and updated overview of multiple mechanisms related to genome plasticity and review evidence for their involvement in several types of human diseases. Currently, there are multiple health challenges associated with the high burden of chronic diseases around the world. ¹ , ² In this context, there is the need for a deeper understanding of biological mechanisms associated with the pathophysiology of common and rare diseases and for the development of more effective diagnostic and therapeutic strategies. ³–⁶

2. Plasticity of the human genome

In the first section of this book, titled Plasticity of the Human Genome, several experts from around the world have written chapters on important topics in the context of basic features and mechanisms of the human genome.

In recent years, it has been shown that the human genome has multiple mechanisms of plasticity to regulate gene and protein expression. ⁷–¹⁰ Multiple large genomic, transcriptomic, and epigenomic experiments, usually carried out by international consortia, have shown multiple layers of complexity in the organization of the human genome and in the regulation of its function. ⁷ , ¹¹ Mechanisms of genome plasticity include DNA methylation, noncoding RNAs, DNA variants, chromatin, and histone modifications. Some of these can be modulated by environmental factors. ¹² In addition to protein-coding genes, noncoding RNAs, a relatively novel category of RNAs that do not encode proteins, have been involved in a large number of physiological processes and human diseases. ¹³ , ¹⁴

A brief history of human genomics and a description of basic concepts and the main features of the human genome, which are useful for readers interested in learning more about it, are given in Chapter 2. ¹⁵ , ¹⁶ The main available methods for the analysis of epigenetic variants, particularly DNA methylation levels, ¹⁷ , ¹⁸ are reviewed in Chapter 3. Epigenetics is a research area with a large potential for the elucidation of molecular mechanisms of diseases and for the development of novel diagnostic and therapeutic strategies. ¹⁹

Important information about available genomic databases is reviewed in Chapter 4, which will be useful for readers looking to learn more about existing bioinformatic resources, which provide large amounts of freely available genomic data. ²⁰ , ²¹ Germline, somatic, and de novo variants are discussed in Chapter 5, and will be interesting for researchers and students looking for updated information about these types of variants, which are associated with a large number of human diseases and related phenotypes. ²² , ²³

An interesting overview of founder variations in isolated populations in several countries around the world is provided in Chapter 6, which provides important information about multiple hereditary diseases. ²⁴ , ²⁵ Updated information about DNA methylation, which is a quite important epigenetic mechanism involved in the regulation of gene expression and which has been associated with a large number of physiological processes and human diseases, is given in Chapter 7. ²⁶ , ²⁷

Chromatin and histone modifications (such as acetylation and phosphorylation), which are important epigenetic mechanisms involved in the regulation of gene expression and which have been associated with a large number of physiological processes and human diseases, ²⁸ , ²⁹ are reviewed in Chapter 8. An overview of networks of transcription factors, which are involved in fundamental mechanisms for the regulation of gene expression and multiple biochemical, physiological, and pathological processes, is given in Chapter 9. ³⁰ , ³¹ Centromeres and telomeres, which are important chromosome structures involved in genome stability and associated with several human diseases, are reviewed in Chapter 10. ³² , ³³

More studies will be carried out in the future to explore in further detail the physiological roles of the mechanisms of genome plasticity. It is possible that novel mechanisms of genome plasticity, currently unknown, would be discovered in the next few years. In this context, results from large consortia carrying out experiments in cell and animal models and performing analyses with tools from bioinformatics and computational biology will be fundamental. ³⁴ , ³⁵

3. Plasticity of the human genome and diseases

In the second section of this book, titled Human Genome Plasticity and Diseases, several experts from around the world have written chapters on important topics related to the association of mechanisms of genome plasticity and human diseases.

Genome plasticity has been associated with multiple human diseases and related phenotypes. ³⁶–³⁸ Human genomics has led to large advances in a deeper understanding of the etiology and pathophysiology of human diseases. ³⁹ Genome-wide association studies have explored the association of common human diseases with hundreds of thousands of single nucleotide polymorphisms. ⁴⁰ More recently, sequencing of exomes and complete genomes has identified an important number of genes for human diseases. ⁴¹ Isolated populations have been important sources for the identification of causal genes and mutations. ⁴²

A large number of genome-wide expression studies have been carried out to identify differentially expressed genes and associated pathways in tissues and cells of patients. ⁴³ Recently, epigenome-wide association studies have been carried out to identify differentially expressed genes and regions in cells and tissues from patients. ⁴⁴ A large number of these genomics datasets for human diseases are publicly available for use by the global research community. ⁴³ , ⁴⁵

Incorporation of genetic findings into preventive, diagnostic, and therapeutic strategies is fundamental in medicine and health care. ³ , ⁴⁶ Several international initiatives are focused on strengthening the implementation of genomic medicine around the world, including developing countries, which have particular challenges. ⁴⁷ , ⁴⁸

The relationship between genome plasticity and cardiovascular diseases, such as myocardial infarction, which are quite important in terms of mortality and morbidity around the world, ⁴⁹ , ⁵⁰ is discussed in Chapter 11. An updated overview of genome plasticity and neuropsychiatric disorders, such as Alzheimer's and Parkinson's diseases, which are quite important around the globe in terms of disability and burden of disease, is provided in Chapter 12. ⁵¹ , ⁵²

The role of genome plasticity in endocrine diseases, such as type 2 diabetes mellitus and autoimmune thyroid disease, which are quite important in the world in terms of morbidity, ⁵³ , ⁵⁴ is discussed in Chapter 13. An updated overview of the implications of genome plasticity for drug development is given in Chapter 14, which highlights advances, challenges, and opportunities for the creation of novel drugs. ⁵⁵ , ⁵⁶

4. Conclusions

Identification of novel associations of mechanisms of genome plasticity with human diseases would lead to a deeper understanding of their pathophysiology and etiology to develop future diagnostic and therapeutic strategies with better performance for multiple human diseases. ⁴ , ⁶ International collaborations would facilitate those efforts, having large samples of patients with different ethnic origins. ⁴⁷

Acknowledgments

DAF is supported by research grants from Colciencias and VCTI (grant # 2019220). YG-G was previously supported by a PhD fellowship from Centro de Estudios Interdisciplinarios Básicos y Aplicados CEIBA (Rodolfo Llinás Program). GPP is supported by European Commission grants (H2020-668353).

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Section 1

Plasticity of the human genome

Outline

Chapter 2. Overview of the human genome

Chapter 3. Methods for epigenomic analyses: DNA methylation

Chapter 4. Genomic databases

Chapter 5. Genomic variability: germline, somatic, and de novo variants

Chapter 6. Founder variations in isolated populations

Chapter 7. DNA methylation

Chapter 8. Chromatin, histones, and histone modifications in health and disease

Chapter 9. Networks of transcription factors

Chapter 10. Centromere and telomere dynamics in humans

Chapter 2

Overview of the human genome

Jelili Oyelade ¹ , ² , Itunuoluwa Isewon ¹ , ² , Olubanke Ogunlana ² , ⁴ , ⁵ , Oluwadurotimi Aworunse ³ , Olusola Oyesola ³ , Olufemi Aromolaran ¹ , ² , Titilope Dokumu ² , ³ , Ibitayo Ademuwagun ² , ⁴ , Franklyn Iheagwam ⁴ , ⁵ , Eunice Babatunde ² , ⁴ , Omoremime Dania ⁴ , and Olawole Obembe ³       ¹ Dept. of Computer and Information Science, Covenant University, Ota, Ogun State, Nigeria      ² Covenant University Bioinformatics Research (CUBRe), Covenant University, Ota, Ogun State, Nigeria      ³ Department of Biological Sciences, Covenant University, Ota, Ogun State, Nigeria      ⁴ Department of Biochemistry, Covenant University, Ota, Ogun State, Nigeria      ⁵ Covenant University Public Health & Wellbeing Research Cluster, Covenant University, Ota, Ogun State, Nigeria

Abstract

The human genome is composed of deoxyribonucleic acid (DNA) organized into 23 pairs of chromosomes in the nucleus of human cells, as well as the small DNA found inside individual mitochondria. Complete sequencing of the 3 billion base pairs that make up the human genome has made available a deluge of information that has enhanced our understanding of evolution, physiology, causality of disease, and association between heredity and environment in humans. This chapter discusses discoveries in genetics that spawned the field of human genomics. It further highlights the role of human genome in disease susceptibility, as well as its prospects for the future of healthcare.

Keywords

Genetics; Genomic medicine; Genomics; Precision medicine; Systems medicine

1. Introduction

Living organisms are comprised of at least one cell, which is the essential unit of life, and all cells originate from an existing one. ¹ For continuity, there is transfer of genetic elements to new cells in an efficient manner, which ensures conservation and preservation of life. Deoxyribonucleic acid (DNA) is the genetic material in most living organisms (except some viruses that have ribonucleic acid—RNA) and it is passed from one generation to another. ¹ Segments of DNA form the gene, which carries specific traits or instructions that are transferred from parents to offspring. Genes carry the genetic code for production of proteins, while noncoding segments of DNA are for structural and regulatory roles. Gregor Mendel spearheaded the study of genetics and is referred to as the father of genetics as depicted in Fig. 2.1. ² After this great achievement, several groundbreaking types of research were done to understand the nature of genes and chromosomes.

The term genetics was coined by an English biologist, William Bateson (1861–1926), who proposed that it be used to name the science of heredity at the third International Conference on Plant Hybridization. This was approved and the report of the conference was published as the Report of the Third International Conference 1906 on Genetics in 1907. ³ The transmission of specific disease-causing variants through genes may result in inherited diseases, which are called genetic diseases. However, not all genetic diseases are inherited, as revealed through several studies on polygenic diseases such as cancers; a de novo pathogenic variant may arise in an offspring, which had no roots in the parental genome.

Figure 2.1 Gregor Mendel (July 1822–January 6, 1884). 

Gregor Mendel, from https://commons.wikimedia.org/wiki/File:Gregor_Mendel_2.jpg

The genome is the entire genetic makeup of an organism, while genomics is the study of the structure, functions, evolution, mapping, and analysis of genes of an organism or individual through multiomics studies. ⁴,⁵ Genomics came into use in 1986, when the American geneticist Tom Roderick coined the term over a celebratory beer meeting that followed the complete mapping of the human genome. ² Today, the term simply describes the study of the genome, including the structure, composition, functions of genes and noncoding DNA, and gene–gene interactions, including the techniques involved in the understanding of the genome. ⁶ Other -omics fields have been birthed by genomics. The word -omics simply describes the detailed study of the total complement of biomolecules of some kind. Examples include proteomics, the study of the total set of protein encoded by the genome; metabolomics, the study of all metabolites involved in biological processes; metagenomics, the study of genetic materials obtained from viruses, bacteria, or fungi from human specimens; transcriptomics, the study of RNA transcribed from the DNA; epigenomics, the study of modifications found on DNA or histones, including the activities of small noncoding RNAs on gene expression levels, etc. ⁷

During cellular differentiation or reproduction, the genetic material is copied and transferred to new cells in the host organism or to its progeny. Hence, DNA (or RNA) hereditary material transmits traits from one generation to another by reproduction, leading to the continuity of life and conservation of species. ¹,⁴,⁵ If not passed from one generation to another, many species would die and become extinct.

DNA plays several significant roles in the existence of life, including structural, functional, and adaptability roles. Structurally, the DNA molecule is a polynucleotide having a double helix structure and is composed of nucleotides as monomeric units. A nucleotide is comprised of a deoxyribose sugar, phosphate group (which both form a backbone for the DNA through phosphodiester linkages), and one of the four heterocyclic nitrogenous bases, namely adenine (denoted as A), guanine (G), thymine (T), or