Essentials of Genetics (9th Edition) - Standalone book
9th Edition
ISBN: 9780134047799
Author: William S. Klug, Michael R. Cummings, Charlotte A. Spencer, Michael A. Palladino
Publisher: PEARSON
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Chapter 14, Problem 19PDQ
A number of different types of mutations in the HBB gene can cause human β-thalassemia, a disease characterized by various levels of anemia. Many of these mutations occur within introns or in upstream noncoding sequences. Explain why mutations in these regions often lead to severe disease, although they may not directly alter the coding regions of the gene.
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Hemophilia in the Russian royal family was caused by defective protein involved in blood clotting (factor IX). This defective protein was caused by a mutation that altered the splicing of the exons. This genetic change in the splicing pattern created a new stop codon in the mRNA for factor IX.
What effect might this new stop codon have on the primary and tertiary levels of the mutant factor IX protein (compared to the native or wild-type protein).
The mRNA sequence 5' AUG AAA CAG GGA UAA 3' encodes a particular peptide of interest to your research team. You have identified a new alternate allele of the sequence 5' AUG AAG CAG GGA UAA 3'. What type of mutation does this alternate sequence illustrate?
Which of the following mutations in the protein-coding region of a gene is more likely to lead to complete loss of function of the encoded protein: an insertion of six nucleotides or a deletion of two nucleotides? Briefly explain your answer.
Chapter 14 Solutions
Essentials of Genetics (9th Edition) - Standalone book
Ch. 14 - CASE STUDY| Genetic dwarfism Seven months...Ch. 14 -
CASE STUDY | Genetic dwarfism
Seven months...Ch. 14 -
CASE STUDY| Genetic dwarfism
Seven months...Ch. 14 - CASE STUDY | Genetic dwarfism Seven months...Ch. 14 -
HOW DO WE KNOW?
1. In this chapter, we focused on...Ch. 14 - Review the Chapter Concepts list on page 257....Ch. 14 - What is a spontaneous mutation, and why are...Ch. 14 -
4. Why would a mutation in a somatic cell of a...Ch. 14 - Why is a random mutation more likely to be...Ch. 14 - Most mutations in a diploid organism are...
Ch. 14 - What is meant by a conditional mutation?Ch. 14 -
8. Describe a tautomeric shift and how it may...Ch. 14 - Contrast and compare the mutagenic effects of...Ch. 14 - Why are frameshift mutations likely to be more...Ch. 14 - Why are X rays more potent mutagens than UV...Ch. 14 -
12. DNA damage brought on by a variety of natural...Ch. 14 - Contrast the various types of DNA repair...Ch. 14 -
14. Mammography is an accurate screening...Ch. 14 - Describe how the Ames test screens for potential...Ch. 14 - What genetic defects result in the disorder...Ch. 14 - In a bacterial culture in which all cells are...Ch. 14 - Human equivalents of bacterial DNA mismatch repair...Ch. 14 - A number of different types of mutations in the...Ch. 14 -
20. Some mutations that lead to diseases such as...Ch. 14 - In maize, a Ds or Ac transposon can cause...Ch. 14 -
22. Presented here are hypothetical findings from...Ch. 14 -
23. Cystic fibrosis (CF) is a severe autosomal...Ch. 14 -
24. Electrophilic oxidants are known to create...Ch. 14 - Skin cancer carries a lifetime risk nearly equal...Ch. 14 -
26. The initial discovery of IS elements in...Ch. 14 -
27. It is estimated that about 0.2 percent of...Ch. 14 -
28. It has been noted that most transposons in...Ch. 14 - Two related forms of muscular dystrophy–Duchenne...
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Need a deep-dive on the concept behind this application? Look no further. Learn more about this topic, biology and related others by exploring similar questions and additional content below.Similar questions
- Name four types of point mutations that can occur in a gene coding for a protein. Discuss the possible effect each of these can have on the protein that is produced.arrow_forwardAs described earlier, DNA damage can cause deletion or insertion of base pairs. If a nucleotide base sequence of a coding region changes by any number of bases other than three base pairs, or multiples of 3, a frameshift mutation occurs. Depending on the location of the sequence change, such mutations can have serious effects. The following synthetic mRNA sequence codes for the beginning of a polypeptide: 5′-AUGUCUCCUACUGCUGACGAGGGAAGGAGGUGGCUUAUC-AUGUUU-3′ First, determine the amino acid sequence of the polypeptide. Then determine the types of mutation that have occurred in the following altered mRNA segments. What effect do these mutations have on the polypeptide products? a. 5′-AUGUCUCCUACUUGCUGACGAGGGAAGGAGGUGGCUUAUCA-UGUUU-3′ b. 5′-AUGUCUCCUACUGCUGACGAGGGAGGAGGUGGCUUAUCAU-GUUU-3′ c. 5′-AUGUCUCCUACUGCUGACGAGGGAAGGAGGUGGCCCUUAUC-AUGUUU-3′ d. 5′-AUGUCUCCUACUGCUGACGGAAGGAGGUGGCUUAUCAU-GUUU-3′arrow_forwardA normal hemoglobin protein has a glutamic acid at position 6; in sickle-cell hemoglobin, this glutamic acid has been replaced by a valine. List all the possible mRNA codons that could be present for each type of hemoglobin. Can a single base change result in a change from Glu to Val in hemoglobin?arrow_forward
- Hemophilia in the Russian royal family was caused by defective protein involved in blood clotting (factor IX). This defective protein was caused by a mutation that altered the splicing of the exons. This genetic change in the splicing pattern created a new stop codon in the mRNA for factor IX. Is it likely that the mutation has altered at least one base at the exon-intron boundary in the wild-type pre-mRNA? Why or why not?arrow_forwardHelp me pleasearrow_forwardA significant number of mutations in the HBB gene that causehuman β thalassemia occur within introns or in upstream noncodingsequences. Explain why mutations in these regions oftenlead to severe disease, although they may not directly alter thecoding regions of the gene.arrow_forward
- Knowing that the genetic code is almost universal, a scientist uses molecular biological methods to insert the human β-globin gene (Shown in Figure 17.11) into bacterial cells, hoping the cells will express it and synthesize functional β-globin protein. Instead, the protein produced is nonfunctional and is found to contain many fewer amino acids than does β-globin made by a eukaryotic cell. Explain why.arrow_forwardConsider the now dominant variant of the SARS-CoV-2 called the D614G mutation: a) The mutation changes an Aspartate (D, Asp) to a Glycine (G, Gly) at nucleotide position 614 (that’s why it’s called the D614G mutant) in the S1 subunit of the Spike protein. Using only the information above and a codon table, what are the mRNA codon sequences of the 2019-dominant and 2020-dominant Spike proteins? Note the figure above is not needed toanswer the question. Report in 5’ to 3' orientation __________________________________________ b) What type of substitution is this? In your answer, address the following: • The expected substitution in base sequence (e.g., A à C)• If the mutation is synonymous, nonsynonymous, or a frameshift• If the mutation is a transition or a transversion c) The mutation increases infectivity by reducing the stability of the Spike protein such that it can remain in the open conformation more often. The open conformation increases the chances of binding to the host ACE2…arrow_forwardThe chromosomal sequences of two mutant alleles of gene A from patients with the zero subtype include the following mutation: 496G>A. Briefly discuss why this mutant fails to produce a functional protein. Note that none of the mRNA transcribed from this gene is of the expected size; some of the mRNA molecules produced are 223 nucleotides shorter than expected whilst others are 47 nucleotides longer than expected. The mutation on position 496 is highlighted in yellow, this will become A instead of G. However, it is the start of an intron, therefore the mutation won't affect the protein. but the question implies that the mutation will affect the protein.arrow_forward
- Hemophilia in the Russian royal family was caused by defective protein involved in blood clotting (factor IX). This defective protein was caused by a mutation that altered the splicing of the exons. This genetic change in the splicing pattern created a new stop codon in the mRNA for factor IX. Give an example of how a mutation that altered the splicing sites in the pre-mRNA might lead to a premature stop codon in the gene.arrow_forwardFor a specific type of mutation at a given location in a particular gene, identify whether it will affect the size of the mRNA, the protein, or both. How would the mutant appear on a gel in comparison to the originalarrow_forwardDuchenne muscular dystrophy is caused by a mutation in a gene that comprises 2.5 million base pairs and specifies a protein called dystrophin. However, less than 1% of the gene actually encodes the amino acids in the dystrophin protein. On the basis of what you now know about gene structure and RNA processing in eukaryotic cells, provide a possible explanation for the large size of the dystrophin gene.arrow_forward
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Mitochondrial mutations; Author: Useful Genetics;https://www.youtube.com/watch?v=GvgXe-3RJeU;License: CC-BY