What is our human genome? Our human genome is what makes us who we are. Many people might find its role in our human body as a miniscule one, but it is rather one of a great role consisting of all the genetic information in a single human being. What makes the human genome unique and amazing is its function and structure. The human genome also has its complications, these are genetic mutations creating genetic disorders that affect millions. With this said, technology makes it possible to overcome these challenges through tests and searches the genome and its possibilities further, which could possibly lead to a future of DNA profiling. What makes it such a fascinating study today to evolve into the Human Genome Project and ENCODE Project, is that it enables many to study its existence and behavior to determine what it will evolve into our later future. As technology advances, it enables us to study the human genome at a higher level than ever before. Breakthroughs have been made as of 2013 that enable scientists to revolutionize what many thought was never possible.
The human genome starts with our very basic DNA. The DNA (deoxyribonucleic acid) is a double helix structure which is delicately wrapped around balls of proteins called histones forming x-shaped bundles that duplicate, called chromosomes. This DNA is packed in about forty-six chromosome bundles, and instructs cells how to work and what to do, such as responding to different things, starting from the food you eat to the germs and chemicals you come in contact with. The DNA’s ladder consists of a double helix staircase-like structure with rails of sugar and phosphate groups and stairs made up of four basic chemical building blocks. These are ring-like structures are known as nucleotide bases, specifically named adenine, guanine, cytosine, and thymine, which can also be abbreviated as A, G, C, and T. A always pairs with T and C always pairs with G on opposite sides of the stairs on the DNA ladder. The sequence of these nucleotides determines what unique characteristics make up an organism (“A Guide To Your Genome” 3). Unique sequences of these base pairs are what make up a gene, which is a set of instructions which every cell can read. Each cell reads these genes to make specific types of proteins building an entire human being. With all these combinations making up genes, an entire human genome consists of about 20,500 genes (“A Guide to Your Human Genome”
4). While every human has 46 chromosomes with the same set of basic genes that make us human, each person’s genome also has variations which make us unique individuals. This is known as genome variation. This variation happens because we have at least one mutation or random change in our DNA sequence. Once the cell divides, it makes a copy of the genome and sends out one copy to the new cells. These variations occur from the very beginning of the sperm cell and egg. About a hundred new mutations occur making you uniquely you. Mutations aren’t necessarily harmful to everyone, but many can be. Because these variations make everyone so different, they are so important in our genetic make-up as well as disorders. Two genome variations are mutations and polymorphisms.
A mutation is a rare DNA variation existing in less than 1 percent of the population. A polymorphism is a DNA variation in which a possible sequence exists in at least 1 or more percent of the population. About 90% of variation in the human genome comes from a single nucleotide polymorphism or SNP, which is a variation in a single nucleotide (“Genome Variations”). Our human genome contains about two million SNPs. With its kind and variation being specified, another main but harmful aspect of mutations and polymorphisms are the diseases that are created by them. Some common diseases are autism, achondroplasia, cystic fibrosis, and breast cancer. Achondroplasia for instance, is caused by a gene alteration in the FRFG3 gene, because the FRFG3 gene makes fibroblast growth receptor 3, a protein, which is involved with cartilage and bone conversion (“Learning about Achondroplasia”). To make these proteins, the DNA sequence of a gene is transcribed into a messenger RNA or mRNA. This molecule then leaves the nucleus and enters the cytoplasm where the mRNA is read and used by ribosomes to build protein building blocks called amino acids into proteins.
People who have a normal copy of FRFG3 and a mutation copy of FRFG3 are the people that suffer from this disease (“Learning about Achondroplasia”). By recognizing these diseases and the mutations involved, it tells us that one extra gene of any kind that with one mistake can create a huge mistake that will last for a lifetime and transfer a genetic mutation from one generation to the next. In this case, the genetic mutation of Achondroplasia was caused by a double gene, single gene mutations can also create certain types of diseases that can be rare. With all these diseases, there are tests that can be used to identify and study more about them in order to possibly modify them. Most genetic tests consist of blood drawings or saliva drawing that are observed and studied in a lab. The lab technicians purify the DNA of these samples and use different techniques such as DNA microarray, to see if a mutation is present. DNA microarray involves placing DNA on tiny chips called microarrays, which reassemble the chips used in computers (“What Are the Types of Genetic Tests?”).
Newborn screening is another type of test that can be used. This is a good precautionary screening to identify any mutations present in a child so they can be treated early in life. Diagnostic testing is another type of testing which can be used to identify a specific chromosomal or genetic condition usually by looking at physical signs and symptoms. Carrier testing is a type of testing used to find out if there is one copy of a genetic mutation and when present with two copies, it creates a genetic disorder (“What Are the Types of Genetic Tests?”). Most of these tests can be used to detect these mutation genes early in carriers and their offspring, starting from prenatal to early childhood. Prenatal testing is one key example of early childhood genetic screening, this test can detect a change in the fetus’ genes and chromosomes before birth and can be offered during pregnancy if there is a likely chance for a baby to have a genetic disorder.
These are just a few of the tests available to many making it important to make sure you know your family’s history of genetics and diseases. By identifying these mutations at an early stage, many can be aware and avoid the diseases that may otherwise affect their child after birth. With so many tests available, this also makes it possible for scientists to observe a new way of looking at our human genome. Currently scientists are working on The Human Genome Project (HGP). This project is an international research effort that has been dedicated to study the genome’s sequence and identify the genes the genome contains with its coordinated project run by National Institutes of Health. The project is helping many determine how the blueprint is designed to create a human and what it contains, and with the use of knowledge about the function of proteins and genes, it could conceive a future in biotechnology and medicine. This project has a goal to understand what genetic factors are involved in genetic diseases, and so far there has been a discovery of more than 18,000 disease genes (“Human Genome Project.”).
Because of this project, it has now enabled many to find a specific gene correlated with its diseases in a matter of days instead of years. Researchers in the project, decipher the human genome using three tools in which they produce linkage maps, make maps showing the location of genes in major sections of the chromosomes, and identify the sequence of all the bases in the DNA of the genome. So far, they have studied and found over 30,000 human genes with three million base pairs (“Human Genome Project.”). Because of The Human Genome Project, we are now able to identify the locations these genes exist in and their set of instructions. To further elaborate the major technique the project uses, DNA sequencing is a laboratory technique that is able to define the sequence of the 4 protein building blocks, A, C ,T, and G in the molecule of a DNA. This sequence is the vital sequence that carries the information needed to build and assemble a protein and RNA molecules while the DNA sequence information is studied by scientists to determine the function of the genes.
The process of DNA sequencing has also been modified to occur at a faster rate because of The Human Genome Project. DNA sequencing is one of the major efforts HGP has put research and study into (“Talking Glossary of Genetic Terms.”). In fact, with all these diseases and technology being used to study their effects and your responses, doctors are able to take these results and determine your genes and what they use to help determine what works best for you which eventually leads to DNA profiling technology (“A Guide to Your Human Genome” 8). Because The Human Genome Project has opened breakthroughs in the way we look at science and genetic structure, labs and scientists have been able to alternate our genome in an intriguing way that has never been seen before.
The technique known as Crispr, allows any alteration to any part of the DNA of the twenty-three pairs of human chromosomes without bringing any flaws or mutations, it involves the individual change of DNA nucleotides. This technique could possible create a way for treatment of diseases like HIV and cancer or any other genetic inherited disorders. Crispr works by using an RNA molecule which can be programmed to equal the DNA sequence in the human genome. This RNA molecule is attached to a special enzyme called CA59 that cuts 2 strands of the DNA double helix, and the copied DNA is then injected into the double helix deleting the defective DNA. Some believe there is possibility to removing particular kinds of genetic diseases such as Down syndrome or Huntington’s disease by modifying the DNA of an embryo before being inserted into a mother’s womb. However, studied still need to show its effectiveness and safety to prove it as a reliable source (Connor).
The Human Genome Project has begun to move the world around in a unique way to change the way we look at our genome, but another project has also bloomed its way into our research which could be a possibly bigger breakthrough, it is known as the ENCODE Project. The ENCODE Project also known as the “Encyclopedia of DNA Elements” (“ENCODE Project”). This project closely correlates with its sister, The Human Genome Project, but focuses on the identification of all functional elements in the human genome sequence. This project has successfully identified functional elements of the human genome during Phase I in September of 2003. Ever since, scientists have been working hard to identify the protein and non-protein encoding genes and their exact location, predicting disease risk, and development of new therapies to treat these diseases, part of a new Phase II (“ENCODE Project.”).
They also discovered that at least 80 percent of non-coding DNA (without genes) which they used to think was “junk DNA,” actually functions to regulate the coding (genes) part of the DNA. This non-coding DNA which has no genes is referred to as the “epigenome.” It has been found to contain millions of epigenetic switches which switch genes on and off. As of now, much is still to be discovered about what environmental factors turn these epigenetic switches on or off, especially those affecting genes that cause diseases. This information looks promising to treat diseases such as cancer, and hopefully bring along a brighter future for treatment and survival of patients. Because our human genome is so complex and filled with so many functions, we have yet to study more about them and their “genomics”, but the future lies ahead with new and amazing possibilities which could render different genetic diseases and possibly remove them from the genome itself.
The genome’s uniqueness lies in the fact that the genetic variations within it make us unique, but with this amazing structure also comes mutations. These mutations affect millions, but there are ways to perform precautionary screening which could make many aware of the genes they carry, and the technology we have today could possibly affect these mutations on a whole new level involving the alteration of the human genome. With increasing technology and methods of testing, the Human Genome Project has evolved into a project where many scientists are able to identify the genetic sequences involved in our genome while the ENCODE Project has become one where defining the function of the non-coding DNA affecting the genes is being understood and further studied. Because of these amazing discoveries, we are now able to execute genome alteration, possibly changing the way we look at diseases, and because of these big changes we are able to understand our genome and how it affects others at a whole new dimension and level.
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National Human Genome Research Institute. A Guide to Your Genome. National Institutes of Health, Oct. 2007. PDF.
National Human Genome Research Institute. “Human Genome Project.” NIH Fact Sheets – Human Genome Project. Oct. 2010. Web. 10 Nov. 2013.
National Human Genome Research Institute. “What Is the Human Genome Project?” What Is the Human Genome Project? Web. 10 Nov. 2013.
National Institutes of Health. “Learning About Achondroplasia.” Learning About Achondroplasia. 11 May 2012. Web. 08 Nov. 2013. .
National Institutes of Health. “Talking Glossary of Genetic Terms.” National
Human Genome Research Institute. Web. 10 November 2013.
National Institutes of Health. “What Are the Types of Genetic Tests?” Genetics Home Reference. National Library of Medicine, 4 Nov. 2013. Web. 09 Nov. 2013. .
UC Berkeley. A Brave New World of Genome Editing. Digital image. The Independent. 7 Nov. 2013. Web. 10 Nov. 2013. .
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