Genetic Analysis: An Integrated Approach (3rd Edition)
3rd Edition
ISBN: 9780134605173
Author: Mark F. Sanders, John L. Bowman
Publisher: PEARSON
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Textbook Question
Chapter 14, Problem 16P
In humans, Duchenne’s muscular dystrophy is caused by a mutation in the dystrophin gene, which resides on the X chromosome. How would you create a mouse model of this genetic disease?
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Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disease caused by mutations in the gene that encodes dystrophin, a large protein that plays an important role in the development of normal muscle fibers. The Dystrophin gene is immense, spanning 2.5 million base pairs, and includes 79 exons and 78 introns. Many of the mutations that cause DMD produce premature stop codons, which bring protein synthesis to a halt, resulting in a greatly shortened and nonfunctional form of dystrophin.
Some geneticists have proposed treating DMD patients by introducing small RNA molecules that cause the spliceosome to skip the exon containing the stop codon (A. Goyenvalle et al., 2004. Science 306:1796–1799). The introduction of the small RNAs will produce a protein that is somewhat shortened because an exon is skipped and some amino acids are missing, but it may still result in a protein that has some function.
The small RNAs, antisense RNAs, used for exon skipping are complementary to…
Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disease caused by mutations in the gene that encodes dystrophin, a large protein that plays an important role in the development of normal muscle fibers. The dystrophin gene is immense, spanning 2.5 million base pairs, and includes 79 exons and 78 introns. Many of the mutations that cause DMD produce premature stop codons, which bring protein synthesis to a halt, resulting in a greatly shortened and nonfunctionalform of dystrophin. Some geneticists have proposed treating DMD patients by causing the spliceosome to skip the exon containing the stop codon. Exon skipping would produce a protein that is somewhat shortened (because an exon is skipped and some amino acids are missing), but might still result in a protein that had some function (A. Goyenvalle et al. 2004. Science 306:1796–1799). Propose a possible mechanism to bring about exon skipping for the treatment of DMD.
You have created three different mutations in the histoneH1 protein (HISmut1, HISmut2, HISmut3), and each of these mutations eliminate a stretch of 5 amino acids from the primary sequence. Based on the description of where you find the mutant histoneH1 proteins when you look inside a cell in each of the cases below, describe 1) what the function is of the amino acids that were removed, and 2) what is not happening with the mutant histoneH1 protein that does happen with wild type H1:
1. HISmut2 protein is found in the cytoplasm, and never in the nucleus.
2. HISmut1 protein is found in only briefly in the cytoplasm because it is very quickly sent to the proteasome.
3. HISmut3 protein is found floating freely throughout the nucleoplasm.
Chapter 14 Solutions
Genetic Analysis: An Integrated Approach (3rd Edition)
Ch. 14 - 14.1 What are the advantages and disadvantages of...Ch. 14 - Prob. 2PCh. 14 - Discuss the similarities and differences between...Ch. 14 - 14.5 What are the advantages and disadvantages of...Ch. 14 - 14.6 You have cloned the mouse ortholog (see...Ch. 14 - 14.7 Diagram the mechanism by which CRISPRCas...Ch. 14 - 14.8 Describe how CRISPRCas has been modified to...Ch. 14 - 14.9 Discuss the advantages (and possible...Ch. 14 - 14.10 Discuss the advantages (and possible...Ch. 14 - You have identifies a gene encoding the protein...
Ch. 14 - You have identified a recessive mutation that...Ch. 14 - 14.13 The CBF genes of Arabidopsis are induced by...Ch. 14 - 14.14 When the S. cerevisiae genome was sequenced,...Ch. 14 - 14.15 Translational fusions between a protein of...Ch. 14 - 14.16 In humans, Duchenne’s muscular dystrophy is...Ch. 14 - 14.17 How would you perform a genetic screen to...Ch. 14 - In enhancer trapping experiments, a minimal...Ch. 14 - 14.19 In Genetic Analysis, we designed a screen to...Ch. 14 - How would you design a genetic screen to find...Ch. 14 - 14.21 The eyes of Drosophila develop from imaginal...Ch. 14 - 14.22 Given your knowledge of the genetic tools...Ch. 14 - Mutations in the CFTR gene result in cystic...Ch. 14 - 14.24 How would you clone a gene that you have...Ch. 14 - 14.25 How would you conduct a screen to identify...Ch. 14 - In land plants, there is an alternation of...Ch. 14 - 14.27 The Drosophila evenskipped (eve) gene is...Ch. 14 - Prob. 28PCh. 14 - 14.29 As shown in Figure, mutations in the...Ch. 14 - How would you edit a specific nucleotide in a...Ch. 14 - Through a forward genetics screen in Arabidopsis...Ch. 14 - The CRISPR - Cas 9 complex directs the Cas 9...Ch. 14 - 14.33 Describe how enhancer screens can be used to...Ch. 14 - How might you use CRISPR - Cas 9 to create a large...
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