3 Steps of RNA Processing
3. Splicing
mRNA Capping
5’ to 5’ TRIphosphate bond. methyl cap marks RNA
Cleavage and Polyadenylation
AAUAAA marks for cleavage Poly (a) polymerase poops out long chain of A residues (no template needed) This: -marks mRNA as special -speeds up translation -stabilizes
Protein Diversity and Polyadenylation?
Variations on where transcribed RNA is polyadenylated = different translation (different proteins)
Spinal Muscular Atrophy
Motor Neuron degeneration. caused by mutation in SMN1 protein that inhibits snRNP assembly by splicing defects
snRNP in RNA splicing
Recognize Splicing Signals (conserved nucleotide sequence) and holds RNA in place while splicing occurs, catalyzing the process
If there are insufficient numbers of snRNPs inefficient/incorrect splicing occurs which results in different proteins. This equals different function.
Lariat Structure
Splice Variants
variants in proteins caused by variants in splicing can create crappy function. Associated with SNP.
Auxillary Splicing Regulatory Elements
bind to places within intron/exon to promote or repress choice of splice site
Beta-Thalassemia
Reduced beta globin
Caused by abnormal splicing because of mutation in normal splicing acceptor site and binds to cryptic splice site
B0 mutation:
1 B+:
1 B Hb E:
-new donor site in ex1