An enzyme, encoded by gene A, converts substrate X into product Y. Individuals with a dominant mutation in gene A over accumulate substrate X, which causes severe neurological symptoms. At the molecular level, this enzyme functions as a homodimer. A homodimer is a protein composed of two subunits that are encoded by the same gene. Let’s suppose you are able to purify subunits from cell samples and then mix them together under conditions in which they form homodimers, and you have an enzyme assay that can measure the accumulation of product Y. How would you distinguish the three common patter
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How would you distinguish the three common patterns of dominant inheritance: haploinsufficiency, dominant negative mutations, and gain-of-function mutations? In your answer, you need to describe what types of cell samples you would analyze, and how your results could distinguish between the three molecular explanations for dominant inheritance. Be quantitative in your answer.
So you have 3 scenarios, \(A\) is the dominant allele and the recessive allele, \(a\).
\(AA\) most accumulation of X
\(Aa\) Intermediate accumulation of X
\(aa\) Least accumulation of X (if any)
Next you need to be able to define the three types of patterns of inheritance proposed, and what amounts of X and Y each would be correspondent with.