3. (8 points) You are studying a mutation of a signaling protein. The mutant pro

Question

3. (8 points) You are studying a mutation of a signaling protein. The mutant protein is completely nonfunctional and is shorter than wild type. The mutant mRNA, however, is significantly longer than wild-type mRNA You find the mutation is a single base-pair substitution. This substitution is not in the coding sequence but is the second base pair in the first intron. Propose a molecular explanation for how a single base change in the intron results in a longer mRNA and a shorter non-functional protein product.

Explanation / Answer

Mutation in intron region will inhibhit alternative splicing of the intron and thus stops the activity of spliciosomes. Inhibition of alternative splicing will causes the longer mRNA than wild type due to including Intron region. And this type of mRNA will stop at incomplete translation producing the protein of shorter size. The protein of this type are unable to fold into 3D shape and remain functionally inactive.

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