lecture 8

Question 0

gain of function phenotype

Answer 0

increased activity of the protein. Often due to increased stability more RNA…etc.
Dominant or Semi-Dominant.
Semi dominant … looks more like the wildtype.
eg. a promoter mutation.
unfortunately they are difficult to interpret. Dominant negative.
need to functional dimer to function. mutation which poisons the gametes. gain of a function is complex, we do not know the exact mechanism as a result many times it is not useful

Question 1

null mutation

Answer 1

loss of function completely.
incomplete is partial activity.

almost always recessive.
haploid insufficiency, one wildtype is not enough for its function.

null mutation, delection is the only true null mutation.
because with all other possibilities, it suggests a possibility of other results.

Question 2

in contrast.

Answer 2

loss of function, insensitive, gain of function, sensitive.
Dominant negative
loss of function is easy to understand