Answer to Question #81876 in Genetics for susan Guido

Question #81876
Huntington’s disease is caused by an allele at the IT15 gene. The allele produces RNA leading to
a protein that has a novel impact on how it interacts with other proteins, causing
neurodegenerative action. Is this allele best classified as functional, non-functional, or
abberant? Justify your answer in 1-2 sentences.
Expert's answer

This allele is best classified as aberrant. Non-functional allele does not produce protein, or, even when protein is produced, it does not work, so the effect is the same. An allele that causes Huntington’s disease, instead, produces a protein with specific polyglutamine region, and its presence cause proteins interactions, that lead to disease. Non-functional alleles usually recessive, however, this allele is dominant.

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