L20-RNA Processing
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Created by:
meredithredick on May 5, 2012
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5 terms
Terms | Definitions |
|---|---|
 prevalence of splicing mutations | account for about 15% of genetic diseases -beta-thalassaemias: mutation of conserved G at beginning of intron leads to use of several cryptic sites -OR mutation within the intron leads to new 5' splice site -makes mutant globins |
| snRNPS | -snRNA complexes with Sm proteins via the Sm binding site. -discovered bc Sm proteins are common antigens in lupus. -short conserved sequences in snRNA that interact with pre-mRNA -U^ is the most highly conserved snRNA. |
| Evidence that snRNPS are important in splicing | if you added labeled pre-mRNA and allow snrps to bind, then add rnase, you get a pre-mrna fragment. (bind and chew experiments) -RNase H -genetic suppression experiments: mutate the 5' splice site and then engineer compensatory snRNA base changes. -shows U1, U2, U4, U6 are essential |
| RNase H experiments | make a DNA-RNA duplex usig the snRNA -add RNase H, which can only work on a duplex hydrid. -add splicing substrate. lack of activity indicates that snrp is essential. |
| Spliceosome | -contains 50-100 proteins -splicing factors bind the poly-pyrimidine tract upstream of 3'splice site -U1/U2 base pairing to 5' splice/branch sites -conformational rearrangements powered by ATP |
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