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T.15 Definición de exón

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What is the primary function of exons in a gene transcript?

To code for proteins

What is the result of a frameshift mutation occurring within an exon?

The reading frame of the genetic code is altered

What is the effect of exon skipping on protein function?

It can alter protein interactions

What is the role of regulatory elements in exons?

They provide binding sites for transcription factors

What is the outcome of alternative splicing in a single gene?

Generation of multiple mRNA isoforms

What is the effect of a nonsense mutation occurring within an exon?

It introduces a premature stop codon

What is the primary function of the EJC in the cytoplasm?

To facilitate the transportation of mRNA

What is the effect of intron insertion or deletion on gene expression?

Genes with introns are more expressed than those without

What is the significance of the 5' end of the RNA exiting the nucleus first?

To facilitate the export of RNA

What is the role of TAP/Mex in the EJC-mediated transport process?

To facilitate the interaction between EJC and the nuclear pore

What is the purpose of the splicing process in eukaryotic gene expression?

To process the RNA molecule for export

What is the significance of eucromatin association with nuclear pores?

To export RNA molecules

What is the effect of the EJC on messenger RNA degradation?

The EJC prevents messenger RNA degradation

What is the relationship between the spliceosome and the EJC?

The EJC is a marker that binds to the spliceosome

What is the significance of the polyadenylation process in eukaryotic gene expression?

It adds a poly-A tail to the RNA molecule

What is the advantage of the 5' end of the RNA exiting the nucleus before transcription is complete?

It allows for simultaneous transcription and translation

Study Notes

Exon Structure

  • An exon is a sequence of DNA or RNA that is included in the final, mature form of a gene transcript
  • Typically, exons are interspersed with introns (non-coding regions) in a gene
  • Exons can be further divided into:
    • Coding exons: contain the instructions for protein synthesis
    • Non-coding exons: do not code for proteins, but may have regulatory functions

Alternative Splicing

  • The process by which a single gene can generate multiple mRNA isoforms
  • Exons are selectively included or excluded from the final mRNA transcript
  • Alternative splicing allows for:
    • Generation of protein isoforms with different functions
    • Regulation of gene expression
    • Increased complexity of the proteome

Exon Mutation

  • A mutation that occurs within an exon can affect the resulting protein product
  • Types of exon mutations:
    • Missense mutation: alters the amino acid sequence of the protein
    • Nonsense mutation: introduces a premature stop codon
    • Frameshift mutation: alters the reading frame of the genetic code
  • Exon mutations can lead to:
    • Loss of protein function
    • Gain of toxic function
    • Altered protein interactions

Exon Skipping

  • A type of alternative splicing where an exon is intentionally excluded from the final mRNA transcript
  • Exon skipping can be:
    • Constitutive: always skipped
    • Tissue-specific: skipped in certain tissues or cell types
    • Developmental-stage specific: skipped during specific stages of development
  • Exon skipping can have significant effects on protein function and gene regulation

Exon Function

  • Exons contain the genetic information necessary for protein synthesis
  • Exons can also contain:
    • Regulatory elements: binding sites for transcription factors and other regulatory proteins
    • Untranslated regions (UTRs): regions that do not code for proteins, but may have regulatory functions
  • Exon function can be influenced by:
    • Epigenetic modifications: chemical modifications to DNA or histone proteins
    • RNA-binding proteins: proteins that interact with RNA and influence its processing and translation

Learn about the structure and function of exons, including alternative splicing, exon mutations, and exon skipping. Understand how exons affect protein synthesis and gene regulation.

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