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 15, Problem 16PDQ
A significant number of mutations in the HBB gene that cause human β-thalassemia occur within introns or in upstream non-coding 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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A 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.
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).
Consider 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…
Chapter 15 Solutions
Concepts of Genetics (12th Edition)
Ch. 15 - If a point mutation occurs within a human egg cell...Ch. 15 - One of the most famous cases of an X-linked...Ch. 15 - The cancer drug melphalan is an alkylating agent...Ch. 15 - Geneticists often use the alkylating agent...Ch. 15 - Six months pregnant, an expectant mother had a...Ch. 15 - Six months pregnant, an expectant mother had a...Ch. 15 - HOW DO WE KNOW? In this chapter, we focused on how...Ch. 15 - CONCEPT QUESTION Review the Chapter Concepts list...Ch. 15 - What is a spontaneous mutation, and why are...Ch. 15 - Prob. 4PDQ
Ch. 15 - Prob. 5PDQCh. 15 - Why is a random mutation more likely to be...Ch. 15 - Most mutations in a diploid organism are...Ch. 15 - What is the difference between a silent mutation...Ch. 15 - Describe a tautomeric shift and how it may lead to...Ch. 15 - Contrast and compare the mutagenic effects of...Ch. 15 - Why are frameshift mutations likely to be more...Ch. 15 - Why are X rays more potent mutagens than UV...Ch. 15 - DNA damage brought on by a variety of natural and...Ch. 15 - Contrast the various types of DNA repair...Ch. 15 - Mammography is an accurate screening technique for...Ch. 15 - A significant number of mutations in the HBB gene...Ch. 15 - Describe how the Ames test screens for potential...Ch. 15 - Prob. 18PDQCh. 15 - Compare DNA transposons and retrotransposons. What...Ch. 15 - Prob. 20PDQCh. 15 - In maize, a Ds or Ac transposon can alter the...Ch. 15 - Prob. 22PDQCh. 15 - In a bacterial culture in which all cells are...Ch. 15 - Presented here are hypothetical findings from...Ch. 15 - Prob. 25ESPCh. 15 - Prob. 26ESPCh. 15 - What evidence indicates that mutations in human...Ch. 15 - Among Betazoids in the world of Star Trek, the...Ch. 15 - Skin cancer carries a lifetime risk nearly equal...Ch. 15 - It has been noted that most transposons in humans...Ch. 15 - Mutations in the IL2RG gene cause approximately 30...
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- Another thalassemic patient had a mutation leading to the production of an mRNA for the β chain of hemoglobin that was 900 nucleotides longer than the normal one. The poly(A) tail of this mutant mRNA was located a few nucleotides after the only AAUAAA sequence in the additional sequence. Propose a mutation that would lead to the production of this altered mRNA.arrow_forwardThe 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?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
- The following four mutations have been discovered in a gene that has more than 60 exons and encodes a very large protein of 2532 amino acids. Indicate which mutation would likely cause a detectable change in the size of the mRNA and/or the size of the protein product. Consider a detectable change to be >10% of the wild-type size. A table of the genetic code is shown below. First letter 0 00 U O A บบบ UUC UUA UUG U CUU CUC CUA CUG Phe GUU GUC GUA GUG Leu >Leu AUU AUC lle AUA AUG Met >Val UCU UCC UCA UCG CCU CCC CCA CCG ACU ACC ACA ACG GCU GCC GCA GCG Second letter C Ser Pro Thr Ala CAU CAC CAA CAG UAU UGU Tyr UAC UGC UAA Stop UGA UAG Stop UGG AAU AAC AAA AAG A GAU GAC GAA GAG His Gin Asn Lys Asp G Glu CGU CGC CGA CGGJ AGU AGC AGA AGG GGU GGC GGA GGG O AAG576UAG (changes codon 576 from AAG to UAG) Cys Stop Trp O GUG326AUG (changes codon 326 from GUG to AUG) Arg Ser Arg Gly DUAG DUA G DCAG DO AG deletion of codon 779 insertion of 1000 base pairs into the sixth intron (this particular…arrow_forwardHemophilia 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_forwardDuring periods of starvation, translation of only vital mRNAs must occur inside a cell. Explain how eIF2 can mediate both the suppression of translation of non-essential mRNAs and ensure that essential mRNAs continues to be translated.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_forwardBriefly discuss (referring to the images provided) why mutant 2 fails to produce 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.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
- 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_forwardHemophilia 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_forwardMutations in the IL2RG gene cause approximately 30 percent of severe combined immunodeficiency disorder (SCID) cases in humans. These mutations result in alterations to a protein component of cytokine receptors that are essential for proper development of the immune system. The IL2RG gene is composed of eight exons and contains upstream and downstream sequences that are necessary for proper transcription and translation. Below are some of the mutations observed. For each, explain its likely influence on the IL2RG gene product (assume its length to be 375 amino acids). (a) Nonsense mutation in a coding region (b) Insertion in Exon 1, causing frameshift (c) Insertion in Exon 7, causing frameshift (d) Missense mutation (e) Deletion in Exon 2, causing frameshift (f) Deletion in Exon 2, in frame (g) Large deletion covering Exons 2 and 3arrow_forward
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Mitochondrial mutations; Author: Useful Genetics;https://www.youtube.com/watch?v=GvgXe-3RJeU;License: CC-BY