a. To hypothesize: The mechanism by which each of the three SCN9A mutations affects gene structure and the reason due to which truncated proteins are made in each case. Introduction: The SCN9A gene has 26 exons and encodes a 1977-amino acid polypeptide. The homozygosity for extremely rare mutations in the SCN9A gene cause complete insensitivity to pain called congenital pain insensitivity or CPA, and a total lack of the sense of smell called anosmia.

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Answer 1

Question

Chapter 8, Problem 46P

Summary Introduction

a.

To hypothesize:

The mechanism by which each of the three SCN9A mutations affects gene structure and the reason due to which truncated proteins are made in each case.

Introduction:

The SCN9A gene has 26 exons and encodes a 1977-amino acid polypeptide. The homozygosity for extremely rare mutations in the SCN9A gene cause complete insensitivity to pain called congenital pain insensitivity or CPA, and a total lack of the sense of smell called anosmia.

Summary Introduction

b.

To determine:

Whether the mutant alleles cause loss of function or gain of function and whether they are amorphs, hypomorphs, hypermorphs, neomorphs, or antimorphs.

Introduction:

The information in DNA is the starting point of gene expression. The cell transcribes that information into mRNA and then translates the mRNA information into protein. Mutations can alter the nucleotide pairs of DNA as well as any step or product of gene expression. Mutations within the gene coding regions alter the gene product. The mutations outside the coding region can also alter gene expression.

Summary Introduction

c.

To explain:

The mechanism due to which CPA or anosmia is a recessive condition in molecular terms.

Introduction:

Mutations affect phenotype by changing either the amino acid sequence of a protein or the amount of the gene product produced. For protein-coding genes, the mutations either prevent the synthesis of the polypeptide or promote the synthesis of a nonfunctional protein.

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Recall that Leber congenital amaurosis (LCA), a formof congenital blindness in humans, can be caused byhomozygosity for recessive mutations in the RPE65gene. Recently, a rare dominant mutation in RPE65has been implicated as one cause of an eye diseasecalled retinitis pigmentosa, which is characterized byretinal degeneration that can progress to blindness.The dominant RPE65 mutation is a missense mutation causing amino acid 447 in the polypeptide tochange from Asp to Glu. Little is known about thenature of the mutant protein.a. Do you think that the dominant allele is morelikely a loss-of-function or a gain-of-functionmutation? Explain.b. As described in this chapter, gene therapy for LCAhas been at least partially successful. Do you thinkthat the same kind of gene therapy can be used forpatients with retinitis pigmentosa caused by thedominant mutant allele of RPE65? Explain.

Based on standard MS- LS3-1: Fish in a cave system in Mexico is missing its eyes, has thin, translucent skin, and is relatively small (7-10 cm in length). Can you describe by model why structural changes to genes (mutations) on chromosomes may affect proteins and may result in beneficial effects to the structure and function of the fish? Can you answer in the following format? 1- Structure How Structure and Function is Affected by Mutations in Blind Fish Eyes Scales Taste Cells Lateral Line 2- Model to explain what causes these changes: Change: ______________ Adapting an Organism to the Dark Cause: ________________ Stop the Growth of Eyes Effect: ___________________ Fish with Heightened Other Senses References: Video: Rare Blind Cave Fish in Mexican Cave System https://www.youtube.com/watch?v=MWdtGuDd8z0 Fact Sheet: Blind Cave Fish https://www.denverzoo.org/animals/blind-cave-fish Information: Mexican Tetra…

VARIATIONS IN GENE EXPRESSION In humans, the glucose-6-phosphate dehydrogenase (G6PD) gene involved in sugar metabolism is X-linked. The dominant allele (G) codes for fast enzymes for normal cell functioning while the recessive allele (g) codes for slow enzymes, which are responsible for the reduced enzymatic activity of cells. However, the presence of slow enzymes has minimal effect in the overall functioning of heterozygotes, thus normal. Recessives, however, are more prone to oxidative reactions that speed up the cell damaging process, thus weak (but not lethal). If random inactivation occurs during dosage compensation, what would be the genotypes and phenotypes of the children of a heterozygous mother and a recessive father? Show COMPLETE cross.

Answer 2

Question

Chapter 8, Problem 46P

Summary Introduction

a.

To hypothesize:

The mechanism by which each of the three SCN9A mutations affects gene structure and the reason due to which truncated proteins are made in each case.

Introduction:

The SCN9A gene has 26 exons and encodes a 1977-amino acid polypeptide. The homozygosity for extremely rare mutations in the SCN9A gene cause complete insensitivity to pain called congenital pain insensitivity or CPA, and a total lack of the sense of smell called anosmia.

Summary Introduction

b.

To determine:

Whether the mutant alleles cause loss of function or gain of function and whether they are amorphs, hypomorphs, hypermorphs, neomorphs, or antimorphs.

Introduction:

The information in DNA is the starting point of gene expression. The cell transcribes that information into mRNA and then translates the mRNA information into protein. Mutations can alter the nucleotide pairs of DNA as well as any step or product of gene expression. Mutations within the gene coding regions alter the gene product. The mutations outside the coding region can also alter gene expression.

Summary Introduction

c.

To explain:

The mechanism due to which CPA or anosmia is a recessive condition in molecular terms.

Introduction:

Mutations affect phenotype by changing either the amino acid sequence of a protein or the amount of the gene product produced. For protein-coding genes, the mutations either prevent the synthesis of the polypeptide or promote the synthesis of a nonfunctional protein.

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Answer 3

Question

Chapter 8, Problem 46P

Summary Introduction

a.

To hypothesize:

The mechanism by which each of the three SCN9A mutations affects gene structure and the reason due to which truncated proteins are made in each case.

Introduction:

The SCN9A gene has 26 exons and encodes a 1977-amino acid polypeptide. The homozygosity for extremely rare mutations in the SCN9A gene cause complete insensitivity to pain called congenital pain insensitivity or CPA, and a total lack of the sense of smell called anosmia.

Summary Introduction

b.

To determine:

Whether the mutant alleles cause loss of function or gain of function and whether they are amorphs, hypomorphs, hypermorphs, neomorphs, or antimorphs.

Introduction:

The information in DNA is the starting point of gene expression. The cell transcribes that information into mRNA and then translates the mRNA information into protein. Mutations can alter the nucleotide pairs of DNA as well as any step or product of gene expression. Mutations within the gene coding regions alter the gene product. The mutations outside the coding region can also alter gene expression.

Summary Introduction

c.

To explain:

The mechanism due to which CPA or anosmia is a recessive condition in molecular terms.

Introduction:

Mutations affect phenotype by changing either the amino acid sequence of a protein or the amount of the gene product produced. For protein-coding genes, the mutations either prevent the synthesis of the polypeptide or promote the synthesis of a nonfunctional protein.

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Answer 4

Question

Chapter 8, Problem 46P

Summary Introduction

a.

To hypothesize:

The mechanism by which each of the three SCN9A mutations affects gene structure and the reason due to which truncated proteins are made in each case.

Introduction:

The SCN9A gene has 26 exons and encodes a 1977-amino acid polypeptide. The homozygosity for extremely rare mutations in the SCN9A gene cause complete insensitivity to pain called congenital pain insensitivity or CPA, and a total lack of the sense of smell called anosmia.

Summary Introduction

b.

To determine:

Whether the mutant alleles cause loss of function or gain of function and whether they are amorphs, hypomorphs, hypermorphs, neomorphs, or antimorphs.

Introduction:

The information in DNA is the starting point of gene expression. The cell transcribes that information into mRNA and then translates the mRNA information into protein. Mutations can alter the nucleotide pairs of DNA as well as any step or product of gene expression. Mutations within the gene coding regions alter the gene product. The mutations outside the coding region can also alter gene expression.

Summary Introduction

c.

To explain:

The mechanism due to which CPA or anosmia is a recessive condition in molecular terms.

Introduction:

Mutations affect phenotype by changing either the amino acid sequence of a protein or the amount of the gene product produced. For protein-coding genes, the mutations either prevent the synthesis of the polypeptide or promote the synthesis of a nonfunctional protein.

Expert Solution & Answer

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Answer 5

Chapter 8, Problem 46P

Summary Introduction

a.

To hypothesize:

The mechanism by which each of the three SCN9A mutations affects gene structure and the reason due to which truncated proteins are made in each case.

Introduction:

The SCN9A gene has 26 exons and encodes a 1977-amino acid polypeptide. The homozygosity for extremely rare mutations in the SCN9A gene cause complete insensitivity to pain called congenital pain insensitivity or CPA, and a total lack of the sense of smell called anosmia.

Summary Introduction

b.

To determine:

Whether the mutant alleles cause loss of function or gain of function and whether they are amorphs, hypomorphs, hypermorphs, neomorphs, or antimorphs.

Introduction:

The information in DNA is the starting point of gene expression. The cell transcribes that information into mRNA and then translates the mRNA information into protein. Mutations can alter the nucleotide pairs of DNA as well as any step or product of gene expression. Mutations within the gene coding regions alter the gene product. The mutations outside the coding region can also alter gene expression.

Summary Introduction

c.

To explain:

The mechanism due to which CPA or anosmia is a recessive condition in molecular terms.

Introduction:

Mutations affect phenotype by changing either the amino acid sequence of a protein or the amount of the gene product produced. For protein-coding genes, the mutations either prevent the synthesis of the polypeptide or promote the synthesis of a nonfunctional protein.

Answer 6

Chapter 8, Problem 46P

Summary Introduction

a.

To hypothesize:

The mechanism by which each of the three SCN9A mutations affects gene structure and the reason due to which truncated proteins are made in each case.

Introduction:

The SCN9A gene has 26 exons and encodes a 1977-amino acid polypeptide. The homozygosity for extremely rare mutations in the SCN9A gene cause complete insensitivity to pain called congenital pain insensitivity or CPA, and a total lack of the sense of smell called anosmia.

Answer 7

Chapter 8, Problem 46P

Summary Introduction

a.

To hypothesize:

The mechanism by which each of the three SCN9A mutations affects gene structure and the reason due to which truncated proteins are made in each case.

Introduction:

The SCN9A gene has 26 exons and encodes a 1977-amino acid polypeptide. The homozygosity for extremely rare mutations in the SCN9A gene cause complete insensitivity to pain called congenital pain insensitivity or CPA, and a total lack of the sense of smell called anosmia.

Answer 8

Summary Introduction

b.

To determine:

Whether the mutant alleles cause loss of function or gain of function and whether they are amorphs, hypomorphs, hypermorphs, neomorphs, or antimorphs.

Introduction:

The information in DNA is the starting point of gene expression. The cell transcribes that information into mRNA and then translates the mRNA information into protein. Mutations can alter the nucleotide pairs of DNA as well as any step or product of gene expression. Mutations within the gene coding regions alter the gene product. The mutations outside the coding region can also alter gene expression.

Answer 9

Summary Introduction

b.

To determine:

Whether the mutant alleles cause loss of function or gain of function and whether they are amorphs, hypomorphs, hypermorphs, neomorphs, or antimorphs.

Introduction:

The information in DNA is the starting point of gene expression. The cell transcribes that information into mRNA and then translates the mRNA information into protein. Mutations can alter the nucleotide pairs of DNA as well as any step or product of gene expression. Mutations within the gene coding regions alter the gene product. The mutations outside the coding region can also alter gene expression.

Answer 10

Summary Introduction

c.

To explain:

The mechanism due to which CPA or anosmia is a recessive condition in molecular terms.

Introduction:

Mutations affect phenotype by changing either the amino acid sequence of a protein or the amount of the gene product produced. For protein-coding genes, the mutations either prevent the synthesis of the polypeptide or promote the synthesis of a nonfunctional protein.

Answer 11

Summary Introduction

c.

To explain:

The mechanism due to which CPA or anosmia is a recessive condition in molecular terms.

Introduction:

Mutations affect phenotype by changing either the amino acid sequence of a protein or the amount of the gene product produced. For protein-coding genes, the mutations either prevent the synthesis of the polypeptide or promote the synthesis of a nonfunctional protein.

Answer 12

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Answer 13

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Answer 14

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Answer 15

Ch. 8 - For each of the terms in the left column, choose...Ch. 8 - Match the hypothesis from the left column to the...Ch. 8 - How would the artificial mRNA 5GUGUGUGU . . . 3 be...Ch. 8 - An example of a portion of the T4 rIIB gene in...Ch. 8 - Consider Crick and Brenners experiments in Fig....Ch. 8 - The HbSsickle-cell allele of the human -globin...Ch. 8 - The following diagram describes the mRNA sequence...Ch. 8 - The amino acid sequence of part of a protein has...Ch. 8 - The results shown in Fig. 8.5 may have struck you...Ch. 8 - Identify all the amino acid-specifying codons in...

Solution Summary: The author explains the mechanism by which each of the three SCN9A mutations affects gene structure and the reason for truncated proteins.

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Chapter 8 Solutions