Question

a deletion of exons 2–7 2. a point mutation in enhancer E1 causing the transcription in the heart as well as in the liver 3. a point mutation decreasing the efficiency of transcription initiation by RNA polymerase 4. a point mutation increasing the efficiency of transcription initiation by RNA polymerase 5. a nonsense mutation in exon 3 6. a missense mutation in exon 5 resulting in a protein with 200% of normal enzymatic activity 7. a missense mutation in exon 5 resulting in a protein with 10% of normal enzymatic activity 8. a missense mutation in exon 6 resulting in an enzyme that acts on additional substrates a. Predict which of the mutations will be gain-offunction mutations and which will be loss-offunction mutations

Answer 1

All sumed up.

Step-by-step explanation:

In order for there to be a loss-of-function mutation, then there would have to be a loss of biological function or decrease of function in the gene. This can occur because of mutations that case the gene product to be partially functional, nonfunctional, absent, or there to be decreased DNA levels that cause decreased transcription or translation. Therefore, it is predicted that 1, 3, 5, and 7 would be loss-of-function mutations.

In order for there to be a gain-of-function, then then gene product would have to have few functions or properties. These are generall associated with changes to the DNA levels that cause different spatial pattersn expression or different enzymatic functional properties. Therefore, it is predicte that 2, 4, 6 and 8 would be gain-of-function mutations.