Errors in splicing are implicated in cancers and other human diseases. What kinds of mutations might lead to splicing errors? Think of different possible outcomes if splicing errors occur.

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**Understanding Splicing Errors in Human Diseases**

Errors in splicing are implicated in cancers and other human diseases. What kinds of mutations might lead to splicing errors? Think of different possible outcomes if splicing errors occur.

**Diagram Explanation**

The diagram illustrates the splicing process:

- The top section shows the spliceosome complex, which is responsible for removing introns from pre-mRNA. Here, the components involved in splicing are labeled:
  - "Exon 1" (in blue)
  - "Exon 2" (in red)
  - "GU" and "AG" represent the splice sites on the intron that are recognized by the spliceosome.
  - "snRNPs" (small nuclear ribonucleoproteins) are components of the spliceosome that facilitate the splicing process.

- An arrow directs attention to the next step, showing the excised intron and the joining of "Exon 1" and "Exon 2," resulting in the spliced mRNA.

Consider the impact of mutations that could alter these splice sites or the machinery, potentially leading to improper splicing and diseases.
Transcribed Image Text:**Understanding Splicing Errors in Human Diseases** Errors in splicing are implicated in cancers and other human diseases. What kinds of mutations might lead to splicing errors? Think of different possible outcomes if splicing errors occur. **Diagram Explanation** The diagram illustrates the splicing process: - The top section shows the spliceosome complex, which is responsible for removing introns from pre-mRNA. Here, the components involved in splicing are labeled: - "Exon 1" (in blue) - "Exon 2" (in red) - "GU" and "AG" represent the splice sites on the intron that are recognized by the spliceosome. - "snRNPs" (small nuclear ribonucleoproteins) are components of the spliceosome that facilitate the splicing process. - An arrow directs attention to the next step, showing the excised intron and the joining of "Exon 1" and "Exon 2," resulting in the spliced mRNA. Consider the impact of mutations that could alter these splice sites or the machinery, potentially leading to improper splicing and diseases.
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