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Ch. 16+17 - Transcription, RNA Processing, and Translation
Chapter 16, Problem 6

Imagine discovering a loss-of-function mutation in a eukaryotic gene. You determine the gene's nucleotide sequence from the start site for transcription to the termination point of transcription and find no differences from the wild-type sequence. Explain where you think the mutation might be and how the mutation might be acting.

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Key Concepts

Here are the essential concepts you must grasp in order to answer the question correctly.

Loss-of-Function Mutation

A loss-of-function mutation is a genetic alteration that results in the reduced or abolished activity of a gene product, typically a protein. These mutations can occur in various forms, such as point mutations, deletions, or insertions, and can affect the protein's structure or function. Understanding this concept is crucial for analyzing how a mutation can lead to a phenotype that differs from the wild type.
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Gene Regulation

Gene regulation refers to the mechanisms that control the expression of genes, determining when and how much of a gene product is made. This includes processes such as transcriptional regulation, where factors like enhancers, silencers, and transcription factors influence the initiation of transcription. A mutation may not affect the nucleotide sequence of the gene itself but could impact regulatory elements, leading to a loss of function.
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Introduction to Regulation of Gene Expression

Transcription and Translation

Transcription is the process by which the DNA sequence of a gene is copied into messenger RNA (mRNA), while translation is the subsequent process where ribosomes synthesize proteins based on the mRNA sequence. Understanding these processes is essential for identifying how mutations can affect gene expression and protein synthesis, even if the coding sequence appears unchanged, potentially implicating regulatory regions or post-transcriptional modifications.
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Related Practice
Textbook Question

RNases and proteases are enzymes that destroy RNAs and proteins, respectively. Which of the following enzymes, if added to a spliceosome, would be predicted to prevent recognition of pre-mRNA regions critical for splicing? a. an RNase specific for tRNAs b. an RNase specific for snRNAs c. a protease specific for initiation factors d. a protease specific for a release factor

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Textbook Question

For each of these statements about the genetic code, select True or False. a. T/F Wobble pairing accounts for the redundancy of the genetic code. b. T/F There are 64 different tRNAs that read the 64 possible codons. c. T/F All possible codons are used, but not all codons specify an amino acid. d. T/F Some codons are recognized by proteins, not by tRNAs.

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Textbook Question

A minimal genetic code requires only 21 codons—one for each amino acid, and one for a stop signal. Given this, what advantage might be offered by having a code with 64 codons?

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Textbook Question

Which of the following describes mutations? Select True or False for each statement. T/F Point mutations can occur in any DNA sequence. T/F Frameshift mutations can occur in any DNA sequence. T/F Neutral mutations depend on the degeneracy of the genetic code. T/F Deleterious mutations occur only in protein-coding sequences of DNA.

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Textbook Question

In a particular bacterial species, temperature-sensitive conditional mutations cause expression of a wild-type phenotype at one growth temperature and a mutant phenotype at another—typically higher—temperature. Imagine that when a bacterial cell carrying such a mutation is shifted from low to high growth temperatures, RNA polymerases in the process of elongation complete transcription normally, but no new transcripts can be started. The mutation in this strain most likely affects: a. the terminator sequence b. the start codon c. sigma d. one of the polypeptides of the core RNA polymerase

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Textbook Question

Explain what's wrong with this statement: All point mutations change the genotype and the phenotype.

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