Gene organisation and transcription II Flashcards
What is mRNA processing?
Splicing out introns before it exits the nucleus and enters the cytoplasm
What bases do introns begin with and end with?
GU —-AG
Describe how small ribonuclear proteins (snRNPs) bind to the mRNA.
U1 binds to the splice donor site, U5 binds to the splice acceptor site, U2, U4 and U6 bind in the middle of the intron
Describe how the intron is removed from the mRNA strand.
The RNA cleaves at the splice donor site and the first G loops round and forms a phosphodiester bond with an adenine residue in the middle of the intron (branchpoint). The mRNA then cleaves at the splice acceptor site and the intron is removed as a lariat structure.
What two structures are added during post-translational modification and why?
7-methylguanylate cap – protects the RNA from degradation – enhances translation
Poly-A-tail – occurs 11-30 bases downstream of an AAUAAA sequence in the mRNA – also acts as protection – added one base at a time
Give an example of a disease that affects one of the structures added during post-translational modification.
Poliomyelitis affects 7-methylguanylate cap recognition during translation
Give an example of a mutation in a splice site which features in human disease.
Beta Thalassemia – splice site mutation in the beta globin gene – caused by imbalances in the relative amounts of alpha and beta chains