Concepts of Genetics (12th Edition)
12th Edition
ISBN: 9780134604718
Author: William S. Klug, Michael R. Cummings, Charlotte A. Spencer, Michael A. Palladino, Darrell Killian
Publisher: PEARSON
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Chapter 18, Problem 3CS
DM1 is characterized by a phenomenon known as genetic anticipation (see Chapter 4) where the age of onset tends to decrease and the severity of the symptoms tend to increase from one generation to the next due to expansion of the trinucleotide repeats in the DMPK gene. What are the implications of a diagnosis of DM1 in this patient with respect to his 4-year-old son, and 2-year-old daughter?
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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.
What are the major factors in the various mutants of the spike protein?
Chapter 18 Solutions
Concepts of Genetics (12th Edition)
Ch. 18 - Some mutations in the tra gene of Drosophila cause...Ch. 18 - Some scientists use the analogy that the...Ch. 18 - Consider the example that actin mRNA localization...Ch. 18 - What is alternative splicing, where does it occur,...Ch. 18 - What role might the expanded tri- and...Ch. 18 - DM1 is characterized by a phenomenon known as...Ch. 18 - HOW DO WE KNOW? In this chapter, we focused on how...Ch. 18 - CONCEPT QUESTION Review the Chapter Concepts list...Ch. 18 - List three types of alternative splicing patterns...Ch. 18 - Consider the CT/CGRP example of alternative...
Ch. 18 - Explain how the use of alternative promoters and...Ch. 18 - Explain how a tissue-specific RNA-binding protein...Ch. 18 - The regulation of mRNA decay relies heavily upon...Ch. 18 - Nonsense-mediated decay is an mRNA surveillance...Ch. 18 - AU-rich elements (AREs) are cis-elements in mRNAs...Ch. 18 - What are processing bodies (P bodies), and what...Ch. 18 - In 1998, future Nobel laureates Andrew Fire and...Ch. 18 - Present an overview of RNA interference (RNAi)....Ch. 18 - RNAi may be directed by small interfering RNAs...Ch. 18 - Prob. 14PDQCh. 18 - In principle, RNAi may be used to fight viral...Ch. 18 - Prob. 16PDQCh. 18 - Prob. 17PDQCh. 18 - Prob. 18PDQCh. 18 - Prob. 19PDQCh. 18 - How is it possible that a given mRNA in a cell is...Ch. 18 - Prob. 21PDQCh. 18 - Prob. 22PDQCh. 18 - Prob. 23PDQCh. 18 - Prob. 24ESPCh. 18 - Prob. 25ESPCh. 18 - Mutations in the low-density lipoprotein receptor...Ch. 18 - RNA helicases are a class of proteins that bind...Ch. 18 - While miRNA response elements (MREs) may be...Ch. 18 - RNAi is currently being tested as a therapeutic...Ch. 18 - The localization and translational control of...Ch. 18 - Explain how the expression of a single gene can be...
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