BIOSC 0160 Lecture 13: Eukaryotic Regulation of Gene Expression (Cont.)
25 Oct 2017
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Recitation: the terminator sequence allows the rna poly to pop off and has nothing to do with transcription, between the promoter sequence and the +1 site, but in between there is a 5" utr. Spinal muscular atrophy: autosomal recessive disease, smn: spinal motor neuron. Smn-1 from mom, and smn-2 from dad; or vice versa. Always gets both copies of gene: 3 types, type i: most severe form, die before 2nd birthday. Notice decreased fetal movement: type ii: diagnosed between ages 3 months-15 months. Difficulty running: smn-1 gene: more stable and produces a full length, stable protein. If this is normal, smn-2 does not need to function: smn-2 gene: produces a defunct protein that is not as long or not as stable. Usually 8 exons in the protein: sma only develops when both copes of smn-1 is defective. Alternative splicing: we do not keep the introns, and we do not get rid of the exons.
