Introduction
A genome can be holistically defined or described as a haploid set of chromosomes containing the genetic material that make up an organism. Additionally, a genome is a complete set of an organism's DNA that contains all the information required by the organism to grow, develop and maintain itself. Narrowing down to humans, a single copy of the whole genome (which contains over 3 billion pairs of DNA) is present in all cells with a nucleus. (NIH, 2017). On the other hand, genome sequencing is the process or procedure of figuring out how the DNA nucleotides or the bases are ordered in a particular genome; the order studied is in the form of Adenine, Cytosine, Guanine, and Thymine which together form the DNA of an organism. The sequencing is impossible to be done via naked eyes. Hence, powerful technologically enhanced machines are employed in the process. The machines read the sequence of DNA bases in a strand of the chromosome and translate them into human alphabets like A, G, T, C which are easily understood or comprehended. For this paper, the history of sequencing, the projects involved, its application in bioinformatics and proteomics, and implication on the treatment of terminal conditions like cancer will be discussed.
According to Pillsbury (2017), genome sequencing of the human DNA, as well as other organisms, has by far been the epitome of scientific and biological achievement in the history of humanity. From Gregory Mendel’s experiments on plants in 1865, the first real success in genome sequencing came in 1976 when the genome RNA of bacteriophage MS2 was sequenced successfully. This was subsequently and quickly followed by the sequencing of bacteriophage ϕX174 genome which was a real groundbreaker of the rapid sequencing techniques engineered and conceived in Walter Gilbert and Fred Sanger’s laboratories. In 1982, before his retirement, Sanger published his last report announcing the first huge genome to undergo the sequencing process. The genome was from bacteriophage λ which had 48,502 bases DNA, 70 known and predictable coding genes, and 23 coding genes of RNA (Koonin & Galperin, 2003).
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In 1983, Huntington’s disease (HD) became the first genetic disease to be mapped employing DNA polymorphism technique. Due to its genetic capabilities, the disease could be passed from the parent to the child causing early HD symptoms in the generation. However, the gene was isolated successfully in 1993. The year 1989 marked the Identification of the mutant Cystic Fibrosis gene which caused the formation of a mucus membrane in the digestive tract, pancreas, lungs, and other vital organs. This discovery remains the most crucial and fundamental single development in the Cystic Fibrosis research to date. In 1990, the King laboratory at the University of California at Berkeley provided evidence of the existence of the Breast Cancer Gene 1 which stimulated the production of a protein that hindered cells from growing and multiplying abnormally out of control. However, the gene was isolated in 1994 and currently, over 1000 mutations of the gene have been identified that are responsible for the risks of getting ovarian and breast cancer in women. Also, 1990 marked the launch of the Human Genome Project which will be discussed in details later in the paper. The year 1995 saw Haemophilus influenza being the first bacterium genome to be sequenced. A year later, the Bermuda Principles were implemented which allowed the Human Genome Project and other research on the same to release data to the public. In 1998, the Celera Genomics Corporation was founded to sequence the human genome. In the subsequent year, Chromosome 22 became the first chromosome from a human to be decoded following efforts from scientists all over the world; Japan, US, England, Germany, France, and China. 2001 which saw the first draft of a human genome to be released. Following the progress, later in 2002, the mouse became the first mammal whose genome was decoded. Finally, the year 2003 marked the completion of the Human Genome Project. This was a significant discovery and research, leading to comparison with the moon-landing just to emphasize its importance in humanity (NIH, 2017).
The Human Genome Project (HGP) tracks its origins back in the mid-1980s. However, the project’s roots go back as far as 1911 when Alfred Sturtevant developed the first map of the Drosophila gene (NIH, 2017). This was followed by the discovery of the double-helical structure of DNA by James Watson and Francis Crick in 1953 which was a crucial background stepping stone to genome analysis. Also, crucial to the HGP were Frederick Sanger’s techniques of DNA sequencing in the mid-1970s which led to the proposition of the entire human genome analysis by other biologists. Additionally, the US Department of Energy established an early genome project in 1987 in a bid to protect the human genome from mutation caused by radiation. Accordingly, in 1988, the US Congress funded the Department of Energy (DOE) and the NIH to get on the concept of human genome research, and hence the two organizations formalized their involvement through a memorandum of understanding, which stipulated coordination of research and technical endeavors in relation to human genome research. On that accord, James Watson was appointed as the leader of the NIH which in essence was the office of the Human Genome Research that later became the National Center for Human Genome Research (NCHGR). Ultimately, in 1990, DOE and NIH formalized and published a plan and particular targets for the initial five years (1991-1995) of the expected 15-year project. The advent of new research technology techniques like the polymerase chain reaction, pulsed-field gel electrophoresis, yeast and bacterial artificial chromosomes, and inhibition fragment-length polymorphisms led to the update of the initial 5-year plan in 1993, and in 1998, NCHGR became a full Institute; National Human Genome Research Institute. However, in 2000 came the announcement that most of the human genome had been sequenced (90%) and in 2003 the project was completed. The project took a shorter time than the initially planned 15 years (NIH, 2012).
In addition to the human genome, other genomes as well were sequenced over the years after the commencement of the project. In 1995 saw Haemophilus influenza as the first bacterium genome to be sequenced. The bacterium’s genome was sequenced using the random shotgun sequencing method. This signified that the procedure could be applied to whole genomes with great accuracy and speed instead of the conventional splitting of the genomes into segments before sequencing. This was a breakthrough as the method was used later in the sequencing of Mycoplasma genitalium and other subsequent organisms. In 2000, the fruit fly genome was sequenced which served as a model organism. This sequencing was fundamental in identifying and comprehending the functionality of the human gene thus aiding its research. Also, 2002 saw the mouse becoming the first mammalian organism whose genome had been decoded. This was a major milestone in the use of the mouse as a research animal model. Moreover, the breakthrough was crucial in understanding the human genome since 90% of the mouse genome corresponded to regions of the human genome with about 30,000 coding genes in their proteins each (NIH, 2017).
On bioinformatics, the increased proliferation of information due to the genome sequencing has been the fundamental pillar in the development of this field (bioinformatics) in which biology and computer science are symbiotic. Thanks to genome sequencing, the bioinformatics researchers can now acquire, store, access, analyze, model, and distribute the numerous information embedded in the DNA sequences. From the human genome project, the knowledge of the sequences involved and discovered throughout the project has been likened to the development of the periodic table in the 19 th century. This as modern researchers advise, will lead to the development of a biological periodic table with thousands of genes and bioinformatics serving as the tool deployed by scientists in interpreting the biological periodic table (Pillsbury, 2017). Proteomics is a branch of biotechnology that applies techniques of molecular biology, genetics, and biochemistry in analyzing the interaction, functionality, and structure of proteins proteomes produced by tissues of organisms. Without the Human Genome Project, it is hard to imagine the study let alone comprehension of proteomic fields like biochemistry or genetics in schools today. Thanks to genomics, the proteomic field has vastly developed and blended well into the modern society leading to great biological, technological, and biochemical discoveries in the scientific world. The development of proteomics is largely influenced by the vast advances made in nucleotide sequencing of tags and genomics on a large-scale without which identification and location of proteins would not be possible (Graves & Haystead, 2002).
The road to cancer and its knowledge began with the evidence provided for the existence of BRCA1 gene in 1990, and ever since more genes relating to cancer have been discovered. Due to the knowledge and insight gained from the Human Genome Project, scientific improvements in molecular-based strategies in identifying and understanding genes are expected to rise. This in-depth knowledge will as well help in comprehending interactions regarding genes and the environment in the development of cancerous conditions. Therefore, scientists can put in efforts in inhibiting the factors. In addition, from the knowledge of the BRCA mutations, scientific studies can now narrow down to the two genes (BRCA1 and BRCA 2) and how to test and prevent them from causing breast, fallopian and ovarian cancer. The knowledge of the MLH1 and MLH2 genes that cause colorectal cancer can be helpful to the scientists in that, individuals who come from a lineage with a history of this disease can be tested early enough before the condition manifests. Hence, treatment can be implemented early. Additionally, from genomics, genetic screening of populations to study the prevalence of cancer is possible. It is evident that chemotherapy kills both healthy and cancerous cells, thus with pharmacogenetics the harm to healthy cells by chemotherapy can be significantly reduced. Another way of the future in cancer is the gene therapy which involves inserting a retroviral gene into the cancerous cell leading to its death.
Conclusion
Genomics has greatly evolved and has effectively revolutionized the scientific world as well as the humankind in study fields like cancer and its treatment. Therefore, genomics is a great way for the future especially in the search for the cure of terminal diseases. In this regard, more funds should be devoted to the pharmacogenetics and gene therapy studies.
References
A Brief History of the Human Genome Project. An Overview of the Human Genome Project. (2012). NIH. Available from: https://www.genome.gov/12011239/
A Brief history. From Mendel to the Human Genome Project. (2017). NIH. 10th Street & Constitution Avenue, NW Washington, DC 20560. Available from: https://unlockinglifescode.org/timeline
Graves, P. R., & Haystead, T. A. J. (2002). Molecular Biologist’s Guide to Proteomics. Microbiology and Molecular Biology Reviews , 66 (1), 39–63. http://doi.org/10.1128/MMBR.66.1.39-63.2002
Koonin, E.V., & Galperin M.Y. Sequence - Evolution - Function: Computational Approaches in Comparative Genomics. Boston: Kluwer Academic; 2003. Chapter 1, Genomics: From Phage to Human. Available from: https://www.ncbi.nlm.nih.gov/books/NBK20263/
Pillsbury, E. (2017). A History of Genome Sequencing. Available from: http://bioinfo.mbb.yale.edu/course/projects/final-4/
