mRNA mod

Question 1

Systemic Lupus Erythematosis

Answer 1

Autoimmune; U1 RNA (snRNP); Sx: extreme fatigue, arthritis, fever, skin rashes, kidney problems

Question 2

Limb girdle muscular dystrophy (LGMD)

Answer 2

Calpain 3 mutation causing new splice site w/in Exon 16 -> Splicesome removes Exon 16

Question 3

β-thalassemia

Answer 3

Mutation of 1st position of Intron 2; G->A mutations, thus Exon 1 is spliced out; microcytic hypochromic anemia

Question 4

Trypanosomes (Chagas disease)

Answer 4

Protozoal DNA causes insertion of U into DNA via terminal uridyltransferase; protozoa edits its own mitochondrial DNA

Question 5

Leishmania (leishmaniasis)

Answer 5

RNA editing