Dr. Verybad has discovered a new neurodegenerative disease (Verybad disease, VBD).
Dr. Verybad has discovered a new neurodegenerative disease (Verybad disease, VBD). The disease starts as headaches and muscle weakness and progresses to cognitive impairment, loss of muscle control, and death. The cause of the disease is currently unknown and there is no treatment. Dr. Verybad has a hypothesis that this is the result of a mutation in a gene located on the X chromosome called Don’t Touch This gene 1 (Dtt1). Dr. Verybad wants to sequence the geneto determine if there is a mutation in Dtt1 responsible for the pathogenesis of VBD. 1) If the defect is in Dtt1, what do you predict would be the male to female incidence of VBD and why? (10 points) 2) If there is a mutation in the sequence approximately 250 base-pairs upstream of the transcription start sight, what might this mutation be affecting? Propose 1 experiment to investigate this possibility. Explain the protocol, controls, and expected results. (10 points) 3) If there is a mutation that falls within an intron close to an exon junction, what might this mutation be affecting? Propose 1 experiment to investigate this possibility. Explain the protocol, controls, and expected results. (10 points) 4) If there is a mutation within an exon, what might this mutation be affecting?Propose 1 experiment to investigate this possibility. Explain the protocol, controls, and expected results. (10 points) 5) If there is a mutation in the 3’ Untranslated region (3’ UTR), what might this mutation be affecting? Propose 1 experiment to investigate this possibility. Explain the protocol, controls, and expected results. (10 points) 6) After sequencing the Dtt1 gene, Dr. Verybad found no changes in the gene sequence. However, he has found that the protein forms aggregates within the cells that results in plaque formation, neuronal loss, and a spongy look to the brain tissue. What might the cause of this disease (5 points extra credit, up to a total of 50)