This paper aims to describe the role and function of protein Helicase.
"Helicases are enzymes that use ATP-driven motor force to unwind double-stranded DNA or RNA" (Wu, 2012).
First discovered in E Coli in 1976 (Abdel-Monem et al, 1976) with the first eukaryotic helicase protein discovered soon after in 1978 (Hotta & Stern, 1978). Since these discoveries, many more similar enzymes and proteins have been discovered.
It breaks the hydrogen bonds formed between opposing strands of DNA with energy formed through the hydrolysis of ATP to ADP and inorganic phosphate (Hartsuiker, 2013). The separation of strands is necessary as newly formed strands need to be transcribed using the nucleotide sequence of an open DNA strand. The protein is built around 6 sub-units which form an hexameric ring with assymetic symmetry.
The biochemical properties of helicases are all very similar however, the presence of specific motifs (short chains of DNA, primarily used for structure) alters which family of helicases they fall into, how that specific helicase will work and subsequently; mutations in these specific motifs will cause specific differences in protein synthesis. There are 4 'Superfamilies' created through differentiation of 7 conserved motifs, roughly made from 300-500 amino acids(Hall & Matson, 2002). All helicases covered in this paper belong the largest family(Unmate et al, 2011) Super Family 2 (SF2) which are recognized by 9 conserved motifs.
XPB and XPD are both DNA helicase structures, mutations in their helicase motifs can cause Xeroderma Pigmentosum (XP) and similar diseases. XPD and XPD's cellular functions involve Nucleotide Excision Repair, which removes DNA; damaged from UV rays. During Xeroderma Pigmentosum, these damaged stran...
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..., similar to BLM, XPD, XPB, and WRN is found in Super family 2 and is a part of the DEAH box helicases. These helicases are involved in nuclear transcription and control of gene expression (De La Cruz et al, 1999). Mutations to this gene coding protein can result in an individual suffering from ATR-X syndrome, causing psychomotor retardation, α-thalassemia and the expression of abnormal phenotypes in both the genitals and face. A 2kb deletion mutation has been observed in the XH2 gene, removing both coding and non-coding sequences. This mutation results in the down-regulation of α - globin, this irregular haemoglobins are produced which directly results in α - thalassemia (Gibbons et al, 1995). The mutated globin proteins have a lower affinity with oxygen, thus less oxygen is in the blood, and less oxygen reaches the brain which can trigger psychomotor retardation.
Miller, Kenneth R. and Joseph S. Levine. “Chapter 12: DNA and RNA.” Biology. Upper Saddle River: Pearson Education, Inc., 2002. Print.
Xeroderma Pigmentosum, or XP, is caused by a mutation in one or more of any seven genes. The first type of mutation that may occur is XPA, caused by a mutation of 9q22.3. This means that mutation occurred in the ninth chromosome on the long arm, q, 22.3 map units from the centromere, or middle, of the chromosome....
X-linked Agammaglobulinemia, or XLA for short, was the first immunodeficiency disease ever to be discovered. Ogden C. Bruton, the man who discovered it, was studying an eight-year-old boy in 1952 who had very confusing symptoms. He studied the boy for almost four years and was still confused by the randomness of his symptoms. The boy was getting many infections in these four years and Bruton could not figure out why until he decided to investigate the boy’s blood. He found that the boy was not producing the correct antibodies to fight off infection. After further research, Bruton was able to relate the symptoms back to the child’s genes. Long after Bruton had passed, the disease was studied in depth and found to be an X-linked genetic disorder effecting the antibody production in males. It was then named X-linked Agammaglobulinemia or, in memory of Ogden Bruton, Bruton’s X-linked Agammaglobulinemia.
In order to do this a polymer of DNA “unzips” into its two strands, a coding strand (left strand) and a template strand (right strand). Nucleotides of a molecule known as mRNA (messenger RNA) then temporarily bonds to the template strand and join together in the same way as nucleotides of DNA. Messenger RNA has a similar structure to that of DNA only it is single stranded. Like DNA, mRNA is made up of nucleotides again consisting of a phosphate, a sugar, and an organic nitrogenous base. However, unlike in DNA, the sugar in a nucleotide of mRNA is different (Ribose) and the nitrogenous base Thymine is replaced by a new base found in RNA known as Uracil (U)3b and like Thymine can only bond to its complimentary base Adenine. As a result of how it bonds to the DNA’s template strand, the mRNA strand formed is almost identical to the coding strand of DNA apart from these
consists of a polyhedral head and a tail. The tail is used to inject DNA into a
Red-green color blindness is not uncommon in the general population. The unequal crossover in the X-chromosome which causes this disorder is much more easily achieved than the mechanisms which cause other types of color blindness, due to the proximity of the two pigment genes. Five to eight percent of men are affected with this genetic condition, and due to a lacking pigment, have trouble distinguishing between red, green and brown. (1)
Canada has been known as a peaceful country throughout the years. Its modest image has kept them from being attacked by terrorist. In Robert W. Murray and John McCoy article, “From Middle Power to Peace Builder: The Use of the Canadian Forces in Modern Canadian Foreign Policy,” it talks about how Canada wanted to be established as the peacekeeper between other international powers. Robert W. Murray and John McCoy discusses ideas about a Canadian foreign policy that was created to maintain a middle ground between large and minor powers. Canada did a lot to dedicate itself to ensuring its national security by faithfully participating within many international institutions. McCoy and Murray article discusses about the idea of Canada’s peacekeeping and being the middle man power, and how it was established during their involvement in Afghanistan. In the beginning of the article, it explains Canada’s transformation of foreign policy and how it went from being a middle power force to becoming an active force in the policy of peacebuilding.
In “The Fish” by Elizabeth Bishop, the narrator attempts to understand the relationship between humans and nature and finds herself concluding that they are intertwined due to humans’ underlying need to take away from nature, whether through the act of poetic imagination or through the exploitation and contamination of nature. Bishop’s view of nature changes from one where it is an unknown, mysterious, and fearful presence that is antagonistic, to one that characterizes nature as being resilient when faced against harm and often victimized by people. Mary Oliver’s poem also titled “The Fish” offers a response to Bishop’s idea that people are harming nature, by providing another reason as to why people are harming nature, which is due to how people are unable to view nature as something that exists and goes beyond the purpose of serving human needs and offers a different interpretation of the relationship between man and nature. Oliver believes that nature serves as subsidence for humans, both physically and spiritually. Unlike Bishop who finds peace through understanding her role in nature’s plight and acceptance at the merging between the natural and human worlds, Oliver finds that through the literal act of consuming nature can she obtain a form of empowerment that allows her to become one with nature.
Albinism is a genetically linked disease and is presented at birth; it is characterized as a lack of pigment called melanin that normally gives color to a person’s skin, hair and eyes. This results in milky white hair and skin, and blue- gray eyes. Melanin is synthesized from amino acid called tyrosine, which originates from the enzyme tyrosinase. Albinism affects all races and both sexes; people with this disease have inherited a recessive, nonfunctional tyrosinase allele from both parents (Saladin 189). The inheritance of Albinism is coded in the gene of the parent’s alleles. Alleles are two different versions of the same gene or trait and are found on the same place of a chromosome. One allele is coded for the production of melanin that will produce normal skin, hair and eye color and another allele that represent the lack of melanin that produces abnormal skin, hair and eyes.
Out of the various amounts of genetic blood disorders in the world, Thalassemia is one of the more common known diseases. Thousands of infants with beta thalassemia are born each year. There are two different types of thalassemia related problems, alpha thalassemia, and beta thalassemia. The differences between the two types of thalassemia lie in the hemoglobin chain that is affected. For this paper the focus will be on beta thalassemia. Beta thalassemia is divided into three subcategories. The forms are thalassemia minor, thalassemia intermedia, and thalassemia major. The topics relating to beta thalassemia that are going to be explored are inheritance patterns, genes, mutations and proteins involved with Beta Thalassemia.
Then the sequence was loaded into Velvet where it was trimmed to the desired k-mer length for alignment and contig formation. Mitos and MEGA alignment Explorer were also used in order to get the DNA sequence to a
Thalassemia is basically a name for similar groups of inherited blood diseases that involve missing or abnormal genes regarding the protein in hemoglobin which is the red blood cells that carry oxygen throughout the body. I will discuss the different types of Thalassemia, how Thalassemia is diagnosed, and the treatments available. I will also discuss the complications and side effects of the treatments, the disease’s causes and effects, and how it is more dominant in some parts of the world than others. Thalassemia is a blood disorder which means the body makes fewer healthy red blood cells and less hemoglobin. Hemoglobin is a protein that carries oxygen throughout the body and having less hemoglobin leads to anemia. Alpha globin and beta globin are the proteins that create Hemoglobin. A defect in the gene that helps control production of alpha or beta goblin leads to Thalassemia. Fewer blood cells leads to anemia, which is the common culprit in Thalassemia.
Each polypeptide chain contains eight alpha helices. The alpha helices cause reactions between Globins to form stable structures.
The restriction enzymes SmaI cuts DNA vertically. This results in two DNA fragments with blunt ends. Next, the gene is spliced into a vect... ... middle of paper ... ... le by stopping illness but this process has also been vandalised for many uses which are not necessary.
There are two main types of thalassemia. The first one is Alpha thalassemia. This occurs when a gene or genes related to the alpha globin protein are missing or mutated. It happens mostly in Southeast Asia, the Middle East, China, and in those of African descent. If one gene is missing or damaged: Your red blood cells might be smaller than normal. You will have no symptoms and you will not need treatment. If two genes are missing or damaged, you will have very mild anemia that will typically not need treatment. This is called alpha thalassemia minor or alpha thalassemia trait. If three genes are missing: You will have mild to moderately severe anemia. This is called hemoglobin H disease. If it is severe, you may need blood transfusions.