Textbook Question
Substitution RNA editing is known to involve either C-to-U or A-to-I conversions. What common chemical event accounts for each?
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10. Transcription
RNA Modification and Processing
1:07 minutesProblem 32b
Textbook Question
Recent observations indicate that alternative splicing is a common way for eukaryotes to expand their repertoire of gene functions. Studies indicate that approximately 50 percent of human genes exhibit alternative splicing and approximately 15 percent of disease-causing mutations involve aberrant alternative splicing. Different tissues show remarkably different frequencies of alternative splicing, with the brain accounting for approximately 18 percent of such events [Xu et al. (2002). Nucl. Acids Res. 30:3754–3766].
Why might some tissues engage in more alternative splicing than others?
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Understand the concept of alternative splicing: Alternative splicing is a process by which a single gene can produce multiple mRNA transcripts by including or excluding specific exons during RNA processing. This allows for the production of different protein isoforms from the same gene, increasing the diversity of proteins in an organism.
Consider the functional needs of different tissues: Different tissues have unique functional requirements. For example, the brain is a highly complex organ with diverse cellular functions, requiring a wide variety of proteins to support its intricate processes. This may explain why the brain exhibits a higher frequency of alternative splicing events.
Analyze the role of tissue-specific splicing factors: Alternative splicing is regulated by splicing factors, which are proteins that influence the inclusion or exclusion of exons. Some tissues may have higher levels or unique types of splicing factors, leading to more frequent alternative splicing events in those tissues.
Examine the evolutionary advantage: Tissues that require a greater diversity of proteins to perform specialized functions may have evolved mechanisms to utilize alternative splicing more extensively. This allows for efficient use of genetic information without the need for additional genes.
Relate to disease-causing mutations: Aberrant alternative splicing can lead to the production of dysfunctional proteins, which may contribute to diseases. Understanding why certain tissues engage in more alternative splicing can help researchers identify tissue-specific vulnerabilities to splicing-related disorders.
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Key Concepts
Here are the essential concepts you must grasp in order to answer the question correctly.
Alternative Splicing
Alternative splicing is a regulatory mechanism in eukaryotic gene expression that allows a single gene to produce multiple mRNA variants by including or excluding certain exons. This process increases the diversity of proteins that can be generated from a single gene, enabling cells to adapt their functions based on specific developmental stages or environmental conditions.
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Tissue-Specific Gene Expression
Tissue-specific gene expression refers to the phenomenon where certain genes are expressed at different levels or are activated in specific tissues. This selective expression is crucial for the specialization of cells, allowing different tissues to perform unique functions, which can influence the frequency and patterns of alternative splicing in those tissues.
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Functional Implications of Alternative Splicing
The functional implications of alternative splicing are significant, as different splice variants can lead to proteins with distinct functions, stability, or localization. In tissues like the brain, where complex signaling and interactions are necessary, the increased use of alternative splicing allows for a greater variety of proteins that can support diverse cellular functions and responses.
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