3.Tay Sachs is a lysosomal storage disease that is inherited in an autosomal recessive manner (T= dominant allele; t = recessive allele). Individuals with Tay Sachs have a defect in the gene encoding hexosaminidase A, a lysosomal enzyme that breaks down cell membrane components called gangliosides. The inability to break down gangliosides causes harmful quantities of this lipid to accumulate in nerve cells of the brain, eventually leading to premature death of affected cells. There is no known cure for the disease, and death usually occurs by age 4. Jack and Jill have a child who has Tay-Sachs. What do you know about the genotypes of Jack and Jill? A.has the genotype DD B.has the genotype Dd C.is still of unknown genotype since there were offspring of both deaf and hearing phenotypes. D.has the genotype dd

3.Tay Sachs is a lysosomal storage disease that is inherited in an autosomal recessive manner (T= dominant allele; t = recessive allele). Individuals with Tay Sachs have a defect in the gene encoding hexosaminidase A, a lysosomal enzyme that breaks down cell membrane components called gangliosides. The inability to break down gangliosides causes harmful quantities of this lipid to accumulate in nerve cells of the brain, eventually leading to premature death of affected cells. There is no known cure for the disease, and death usually occurs by age 4. Jack and Jill have a child who has Tay-Sachs. What do you know about the genotypes of Jack and Jill? A.has the genotype DD B.has the genotype Dd C.is still of unknown genotype since there were offspring of both deaf and hearing phenotypes. D.has the genotype dd

Biology: The Dynamic Science (MindTap Course List)

4th Edition

ISBN:9781305389892

Author:Peter J. Russell, Paul E. Hertz, Beverly McMillan

Publisher:Peter J. Russell, Paul E. Hertz, Beverly McMillan

Chapter10: Cell Division And Mitosis

Section: Chapter Questions

Problem 3TYK: A major difference between hereditary information in eukaryotes and prokaryotes is: a. in...

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3. Coronaviruses express a nucleocapsid protein that is needed for propagation, transcription, and assembly of the virus. The nucleocapsid protein must be phosphorylated by a kinase in the host cell to carry out these functions. One such kinase that has been recently reported is glycogen synthase kinase 3 or GSK-3. The following is the 10-letter sequence of the nucleocapsid protein that is recognized and phosphorylated by GSK-3: SSRGTSPARM. Note: pk. N-terminus = 9.3; pk. R = 12.5; pK. T= 13; pK. S= 13; pK. C-terminus = 4.3 a) What is the sequence of the peptide using the three-letter amino acid abbreviations? b) Draw the chemical structure of the peptide when it is at pH 8. Assign charges and label the peptide bonds. c) What is the pl of the peptide? Do not use an online resource to calculate this value. Show your work to receive credit.
Exercise 1: Albinism is a hereditary deficiency characterized by the absence of pigmentation in the skin, eyes, and hair, due to the absence of a black pigment: the melanin. Tyrosinase is an enzyme implicated in the biosynthesis of this pigment. The gene coding for tyrosinase exists in different alleles. We consider only 2 alleles: allele A coding for the active tyrosinase responsible for the synthesis of melanin, and allele B coding for the inactive tyrosinase which doesn't allow the synthesis of Albinism melanin. The document below represents a partial sequence of a strand of the 2 alleles A and B. Number 80 81 82 83 84 85 of triplet Allele A TGC САА CGA ТСС ТАТ СТТ ... Allele B TGC САА САА TCC ТАТ СТТ ...
1. Huntington's disease (HD) is an autosomal dominant, 12 neurodegenerative disorder caused by a pathological expansion of CAG repeats in the gene encoding for a protein called huntingtin. CAG codes for glutamine, and huntingtin protein containing > 42 ex- tra C-terminal Gln residues causes pathology. There has been sig- nificant evidence that energy production is impaired in HD, but the origin of the hypometabolism, i.e., glycolysis vs. oxidative phosphor- ylation, was not established until fairly recently. wild-type 10 mutant 8 2 The diagram on the right compares in the upper diagram the total ATP production generated in cultured (wt) STHDHQ7/Q7 and mu- tant STHDHQ111/Q111 striatal neuronal progenitor cells. Within the standard error of the measurements, the ATP production proved un- expectedly to be equivalent from both types of cells. To probe the two different sources of ATP production in the cells, the investigators carried out similar experiments with permeabilized cells…
4. Mitochondrial DNA (mtDNA) encodes some proteins of the ETC. Point mutations of mitochondrial genes can impair the electron transport chain and oxidative phosphorylation. One of the syndrome resulting from disorders of mtDNA-encoding protein is MELAS syndrome (mitochondrial myopathy, encephalomyopathy, lactic acidosis and stroke). The carliest manifestations are the neurological and muscular abnormalities due to the greater dependence of brain, heart and skeletal muscle on mitochondrial ATP synthesis. Explain why 252 Chapter 5. Catabolism and cellular bioenergetics the levels of lactate and pyruvate are increased in MELAS syndrome. For the answer: a) discuss the respiratory control in ETC and significance of the ratio NADH/ NAD; b) describe the reactions of oxidative decarboxylation of pyruvate; c) explain why the disorders in the structures of components of ETC leads to the activation of the reaction, which is catalyzed by lactate dehydrogenase.
6. Suppose that brown is the wild-type colour of the iris of eyes. However, dominant autosomal mutations in the genes coding the proteins responsible for the steps of colour determination (shown below) negatively disrupts their functions. The colour of the iris can be either blue, green, brown or no coloration (results in pink iris). B gene represents the pigment transporter; L gene represents the luciferase enzyme; and the C gene represents tyrosinase enzyme). The biochemical pathway for colour determination is the following: Cell of the human iris Blue Blue Luciferase (L) Green Pigment Tyrosinase (C) transporter (B) Brown a. Assuming no confounding factors, which genotype (include all genes mentioned) will result in green iris? b. Assuming that the transporter is composed of 4 subunits of protein coded by the same gene. What will the colour of the iris be if an individual is heterozygote for the gene expressing the transporter? c. Now, assuming the tyrosinase step is incompletely…
1). In the absence of this enzyme, a substance called ceroid lipofuscin accumulates in lysosomes in the brain, resulting in seizures, blindness, decline in cognitive function and motor skills, dementia, and death by the late teens or early 20’s. The TPP1 gene is 6695 bp in length. Think about the characteristics of Batten disease, and then suggest an approach to gene therapy that might be effective for this specific genetic disorder. You may assume that your research team is working in the U.S. and your research is funded by a grant from the National Institutes of Health (NIH). Please EXCLUDE the use of CRISPR from consideration. A. Will you use germline or somatic cell gene therapy? Please NAME and DEFINE the form of gene therapy selected, then explain WHY this is the most appropriate choice.
1). In the absence of this enzyme, a substance called ceroid lipofuscin accumulates in lysosomes in the brain, resulting in seizures, blindness, decline in cognitive function and motor skills, dementia, and death by the late teens or early 20’s. The TPP1 gene is 6695 bp in length. Think about the characteristics of Batten disease, and then suggest an approach to gene therapy that might be effective for this specific genetic disorder. You may assume that your research team is working in the U.S. and your research is funded by a grant from the National Institutes of Health (NIH). Other scientists have suggested that it might be possible to use CRISPR to treat this genetic disorder in affected individuals. (i) First, what is CRISPR? (BRIEFLY describe what it is and how it works). (ii) Briefly describe how CRISPR could be utilized in treating genetic conditions such as Batten disease.
1). In the absence of this enzyme, a substance called ceroid lipofuscin accumulates in lysosomes in the brain, resulting in seizures, blindness, decline in cognitive function and motor skills, dementia, and death by the late teens or early 20’s. The TPP1 gene is 6695 bp in length. Think about the characteristics of Batten disease, and then suggest an approach to gene therapy that might be effective for this specific genetic disorder. You may assume that your research team is working in the U.S. and your research is funded by a grant from the National Institutes of Health (NIH). a) Hypothetically, what specific type of VECTOR will you use to perform your gene therapy? Please select from the following list of potential vectors: disabled retrovirus, adenovirus, adeno-associated virus (AAV), or herpes simplex virus (HSV), then give two reasons why this specific vector is the most appropriate for your gene therapy. Please explain why you were able to rule out the other potential…
1) Discuss the roles of epidermal growth factor receptor (EGFR) in normal cell signalling transduction and in cancer development. 2) Describe uniparental inheritance of mitochondrial DNA and discuss its importance in human disease and potential treatment strategies
1. "Interferons (IFNs)‐α and ‐β are expressed in response to a virus infection and are released from the cell in which they are produced. IFNs induce an antiviral state in other neighboring cells. a. Which cellular process is inactivated when IFN‐treated cells are infected with a virus? b. One arm of the IFN‐induced antiviral state is the synthesis of 2′,5′‐oligoA in response to viral infection. In one sentence or a simple diagram, what is the effect of this on the cell? c. Another arm of the IFN‐induced antiviral state is activation of the protein kinase in response to viral infection. In one sentence or a simple diagram, what is the effect of this on the cell? d. All cells contain the genes for IFNs. IFN synthesis is stimulated by virus infection. Would you expect a cell that has been treated with IFN to synthesize IFN in response to a viral infection? Explain your answer."
A gene contains the sequence CGCATACGGTAC that results in the amino acid sequence arg-ile-arg-tyr. A mutation in this gene removes the first G in the strand.What is true of this mutation's effect on the phenotype?1.It will affect the phenotype because although most of the protein will be identical, the first amino acid will be different.2.It will not affect the phenotype because the protein will be identical to the original protein.3.It will affect the phenotype because all the amino acids past this point will be different from the original protein.4.It will not affect the phenotype because only the first amino acid is different from the original protein.
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