Question

In another mutant cell line, you find that gene expression of mature, properly spliced Tbx5 mRNA...

In another mutant cell line, you find that gene expression of mature, properly spliced Tbx5 mRNA are greatly reduced. What kind of mutation is most likely accounts for this phenotype?

1. a short deletion that preserves the open reading frame

2. a short deletion that disrupts the open reading frame

3. a mutation in the promoter region of Tbx5

A. 1.

B. 1 and 2

C. 1 and 3

D. 2 and 3

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Answer #1

C. 2 and 3

THe open reading frame is the part that would be translated, and a mutation to this may be a nonsense or missense mutation, meaning that the gene expression would reduce.

If the promoter mutates, it may disturb transcriptional activation which would lead to less gene expression as well.

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