As I was reading the book for my genetics class, I was amazed of how DNA replication works. DNA replication is the process which copies the DNA in a cell, which then creates two daughter cells. The process is important because it replaces damaged or dead cells. Ineffective protection from the damage can produce a genetic instability causing mutations. DNA replication plays an important role in our body to stay healthy and avoid getting many diseases. Defects in DNA repair can result to many rare hereditary diseases. According to Pierce (2013), defects in DNA repair can cause mutation resulting to diseases associated with cancer. For this assignment I chose the human DNA-repair disease called Xeroderma Pigmentosum.
National Organization
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This also includes freckle like spots on the skin and predisposition to skin cancer (Pierce, 2013). Skin abnormalities can be seen in XP such as: hyperpigmentation, hypopigmentation, excessive scarring, and skin lesions (telangiectasias). Affected children with XP will have severe sunburn after few minutes in the sun, then that sunburn will turn into blisters that will lasts for weeks. People affected by xeroderma pigmentosum have an increased risk of skin cancer. In other cases, dwarfism, delayed development, mental retardation, and neurological impairment may occur in xeroderma pigmentosum.
The relationship between xeroderma pigmentosum and mutation was discovered when the genes responsible for DNA repair is impaired. DNA repair normally reject many mutations that arises in XP. Research findings discovered that the cells with defective DNA repair are likely to retain mutation than a normal cell; this also includes mutations in genes that regulate cell division (Pierce, 2013). Due to the mutation of the POLH, XPC, and ERCC2 genes, the DNA that was damaged from the sun and toxic chemicals are not repaired. This as a result will lead to cell malfunction and ultimately will become a
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According to Pierce (2013), transcription is the process where all cellular RNAs are synthesized from DNA template and translation is the process of translating the sequence of mRNA during protein synthesis. Mutation can affect transcription and translation, because it changes the genetic sequence and and protein structure. Mutation affects transcription because it changes the amino acid sequence and destroys the protein function. Likewise, mutation affects translation because it intervenes the process of mRNA translation and the cellular components that control them (Scheper, Van der Knaap, & Proud, 2007) . As a result, disorders arises when mutations alters the transcription and translation process. Likewise, xeroderma pigmentation is a result of mutation in genes that are responsible for repairing the damaged cells (Genetic Home Reference, 2015). In normal cells, the DNA that is damaged by toxic chemicals and UV rays are fixed before it causes problems. This is not the case for XP; build up of unrepaired damaged cells can lead to the symptoms of xeroderma
Barone, Eugene J., Judson C. Jones, and Joann E. Schaefer. "Hidradenitis Suppurativa." Skin Disorders. Philadelphia: Lippincott Williams & Wilkins, 2000. 21-25. Print.
Retinitis pigmentosa can be caused in a person in numerous ways. It normally runs in families, however, it can also be caused from a mutation. We believe my grandmother developed the disorder from a genetic mutation, as no one else in my family has ever had the disorder or has developed it as of...
A permanent change in the DNA sequence which makes up a gene is what is referred to as gene mutation (Mahoney & Springer 2009). It is believed that gene mutation occurs in two ways: that is, it can be acquired in personal lifetime or inherited from a parent. Those that are passed from parents to the child are referred to as hereditary mutation. They acquire the name since they are present in the eggs and sperms or the germ cell. In this case, such kind of mutation is present all through one’s life in almost every cell in the body. A similarity in mutation and gene diversity is the change in the DNA sequence which makes both mutation and genetic diversity have related issues.
Cancer has been an active concern in our society for the past couple decades, since we truly discovered the nature of cancer and the potency it brings along with it. However, it was not until the mid-20th century that scientists were beginning to truly understand the origin of cancer. Scientists dating back all the way to the Renaissance, when they first began performing autopsies to learn more about the human body and form, noticed abnormalities but it never clicked that it was something much worse than it seemed. Research has continued since then, and it has continued to thrive even to this day. When James Watson and Francis Crick discovered DNA and it’s chemical structure in 1962, it opened up doors that even they could not expect. With the understanding of DNA and how it affected the way we look at life, came the beginning of the understanding of mutated DNA (which is a cause of the growth of cancerous cells). In this past century, researching scientists discovered that cancer is linked with the DNA that resides in a cell’s nucleus. By ways of damage to the cells via chemicals or radiation, or even introduction of a new DNA, the cancerous cells begin to form and duplicate. We are learning more and more about cancer and how to fight it, but we still have much more to learn.
The major environmental risk factor for melanoma is overexposure to ultraviolet (UV) radiation from the sun. People who have fair skin that burns or freckles easily need to be especially careful in the sun as protecting yourself against UV overexposure is an important way you can help reduce your risk of developing melanoma.
1. DNA replication is vital in the survival of species as through replication, identical copies of genes can be made, ensuring it is able to repair itself when it is damaged (through the process of mitosis).
There is current research being done on gene therapy that could possibly cure epidermolysis in the future. The gene therapy involves injecting normal genes into the tissues. In turn, the normal gene will reproduce so the genes inside the tissues are also normal. There has been one successful attempt of this gene therapy with the non-Herlitz junctional epidermolysis. There is still much research to be done in this area but the future of gene therapy is looking hopeful (Sarkar et al., 2011).
Rather than the recruitment of DSB repair proteins to DNA damage sites for repair as part of the damage response, nuclear foci of Rad50/Rad51 did no colocalize with the γ-H2AX foci in HGPS cells. Although all other elements of the damage response system such as the ATR and ATM checkpoints and Chk1 and Chk2, the critical components for repair of DNA DSBs and the resting of stalled replication forks, were not activated. Failure to recruit repair factors to DNA damage sites result in irreparable DNA damage in HGPS cells.
Heterochromia is caused by the lack or complete absence of the pigment melanin in the early development of the body. The deficiency, or complete absence of melanin also causes albinism and is found in skin color and hair (Haldeman-Englert). In most cases, Heterochromia is usually passed down genetically, but it could also be contracted by a mere punch in the eye. There are many syndromes and infections that are linked to Heterochromia. Elderly people that have cataracts or glaucoma have a slight chance of getting Heterochromia. The discoloration or pigment levels in the eyes affected have no foreseeable we...
The variations of pigmentation between alleles of the brown gene are likely to be caused by repressing pteridines in the pigment cells. Mutations in the brown (bw) gene result in a modification of pigmentation in the eye color. The reduction of screening pigments in primary pigment cells of the ommatidium, consisting of brown ommochromes and red pteridines, cause variations of darker or lighter shades of
Melanoma skin cancer is often caused by too much exposure to the suns UV rays.
A deletion of genetic material in the part of the X chromosome called Xp22 causes microphthalmia with linear skin defects syndrome. This region has a gene called HCCS, which carries instructions for producing an enzyme called holocytochrome c-type synthase. This enzyme helps produce a molecule called cytochrome c. Cytochrome c is involved in oxidative phosphorylation. That is when mitochondria create adenosine triphosphate (ATP), the cell's energy source. It also contributes to apoptosis. A deletion of genetic material that includes the HCCS gene prevents the production of the holocytochrome c-type synthase enzyme. Since females have two X chromosomes, some cells produce a normal amount of the enzyme and other cells produce none. The resulting
Ectodermal dysplasia,also known as E.D., is one of the many results of a mutation. ED is
When people are exposed to UV light, from the sun or, for example, in a tanning booth, the melanocyte cells make more melanin and pack together tighter, resulting in darker skin tones. If the skin is receiving too much ultraviolet light, the melanocytes may begin to grow abnormally and become melanoma during this process.
New measures in our lifestyle and some nutritional supplements can help us to control the effects of both epigenetics and genetics. Some of the first step to minimize the damage is to avoid environmental chemicals. Changes in our DNA can be related to exposure to environmental toxins such as BPA, pesticides, solvents, etc. we are not only exposed to this toxins through water or food, but also through cosmetics, hair dyer, or sunscreen.