Geneticists have been exploring ways to suppress the expression of the extra chromosome 21 in individuals with Down syndrome in hopes of preventing the medical problems and intellectual disability of individuals with trisomy 21. One approach involves modifying a gene that is already present in human cells and using it to suppress the expression of the extra copy of chromosome 21. What approach, do you think, are they taking, and what may be some of the challenges for using it in patients?
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Geneticists have been exploring ways to suppress the expression of the
extra chromosome 21 in individuals with Down syndrome in hopes of
preventing the medical problems and intellectual disability of
individuals with trisomy 21. One approach involves modifying a gene
that is already present in human cells and using it to suppress the
expression of the extra copy of chromosome 21. What approach, do
you think, are they taking, and what may be some of the challenges for
using it in patients?
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- Diseases which are caused by recessive variants in loci located on the X chromosome affect females and males differently. How? Lifestyle choices and environmental exposures can also shape up a disease, how? (Discuss from the aspects of molecular biology) c. In a designed Microarray experiment, in which the probes for the control cell’s transcripts are labelled with green dye and probes for cancer cell’s transcripts are labelled with red dye. What color intensities will you expect in the spots of oncogenes and tumor suppressor genes?Duchenne Muscular Dystrophy (DMD) is a disorder that primarily affects the function of skeletal muscles used for movement and cardiac muscles used for heart beating. Dystrophin is a protein encoded by a single gene, DMD, that is expressed in skeletal and cardiac muscle. Some forms of muscular dystrophy may be caused by different mutations in the DNA sequence of the DMD gene. Because the DMD locus is on the X chromosome, males are affected at higher rates. Two brothers, one of whom has DMD and one of whom does not, worked with their genetic counselor (Links to an external site.) to have their DMD gene sequenced to identify genetic variation that may explain why one brother was affected and the other not. Because DMD is a very long gene, a fictionalized, simplified model of the results is presented here (Figure 1). The actual DMD mRNA is about 16,000 base-pairs!------Consider single nucleotide polymorphism (SNP) #1 (Figure 1). Is this mutation likely to cause Duchenne muscular…Sarah has always lived what many consider an active and healthy lifestyle. She makes a conscious effort to eat well and exercise daily, never smoked, and drinks moderately. Many of Sarah's female relatives (including her mother and grandmother) have had breast cancer. Sarah has decided to have her genome sequenced. She is specifically interested in whether she shows mutations in BRCA1 and BRCA2 that are linked to breast cancer. What information can be drawn from the sequence data Sarah will receive? Justify your answer. • Sarah will know if she will develop breast cancer. • Sarah will know if and when she will develop breast cancer. • Sarah will know the severity of her breast cancer based on the number of mutations; that is, the more mutations in those genes, the greater the severity of the disease. • Sarah will know whether she is predisposed to breast cancer. • Sarah will know that she will not develop breast cancer if there are no mutations in those genes.
- Our understanding of maternal effect genes has been greatly aided by their identification in experimental organisms such as Drosophila melanogaster and Caenorhabditis elegans. In experimental organisms with a short generation time, geneticists have successfully searched for mutant alleles that prevent the normal process of embryonic development. In many cases, the offspring die at early embryonic or larval stages. These are called maternal effect lethal alleles. How would a researcher identify a mutation that produced a recessive maternal effect lethal allele?One unexpected result of the sequencing of the human genome was the finding that mutations in a single gene can be responsible for multiple distinct disorders. For example, mutations in the RET gene can cause two different types of multiple endocrine neoplasias, familial medullary thyroid carcinoma, and Hirschsprung disease. How do you think mutations in a single gene can have such diverse effects?Your friend sends you two cancerous cell lines to examine and determine possible mutations. The results are shown below: Cell Line Mutation WT none (wild type DNA) 1 a deletion at the same region on both copies of chromosome 4 a point mutation in a gene on only one copy of chromosome 7 You learn that cell line 2 is a breast cancer cell line that expresses a mutant version of a receptor protein called KIT. Based on this data, which of the following is true ? Select all that apply Activation of KIT promotes progression through the cell cycle V Activation of KIT releases an inhibition of a cyclin Activation of KIT causes cells to enter GO V Activation of KIT promotes cells to undergo apoptosis
- Genes with highly similar sequence are often located adjacent one another in the genome. Gene duplication commonly arises from errors in replication. When the organization of such adjacent genes is in an inverted orientation, this can reduce the expression of other genes that have similar sequence and are located on other chromosomes. Explain the mechanism of how this generally occurs. i need a detailed explanation, please. I need to know what the mechanism is. How it happens and why. Please. ThanksYour friend sends you two cancerous cell lines to examine and determine possible mutations. The results are shown below: Cell Line Mutation WT none (wild type DNA) 1 a deletion at the same region on both copies of chromosome 4 2 a point mutation in a gene on only one copy of chromosome 7 You learn that cell line 2 is a breast cancer cell line that expresses a mutant version of a receptor protein called KIT. Based on this data, which of the following is true ? Select all that apply Activation of KIT promotes progression through the cell cycle Activation of KIT releases an inhibition of a cyclin Activation of KIT causes cells to enter GO Activation of KIT promotes cells to undergo apoptosisThe GAL4 expression system can be used to experimentally induce expression of a gene in a specific tissue at a specific time. You want to study the overexpression of Your Favorite Gene (YFG) in mouse ear development. However, if you overexpress this gene everywhere, the mouse is not viable past early embryo development. You have the following mouse lines with different mutations or transgenic constructs available. Which two will you cross together to answer your research questions? GAL4 with constitutive enhancer GAL4 with embryo enhancer GAL4 with ear enhancer yfg loss-of-function line YFG CDNA with UASG promoter YFG CDNA with constitutive promoter
- Although each cell in your body contains the same set of genes, the genes that are “turned on” differ depending on the type of cell. What signals different genes to be “turned on” or transcribed in different cells? What types of behaviours or environmental circumstances can lead to changes in an individual’s epigenome? Explain. 3. Explain how changes in your epigenome can alter the DNA of your future children before they are even born. 4.) Explain TWO implications of these findings for society. (Hint: think big! Implications for how disease is transmitted, intergenerational trauma, the cycle of poverty, etc.)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). 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…