RNA Processing
2 components of the spliceosome
What are SnRNA and Sm proteins?
What is the ribosome?
Bacterial toxins ADP-ribosylate this eukaryotic target to inhibit the translocation step of translation
What is EF-2 (dipthamide residue)?
Technique which indirectly screens for protein and is highly sensitive
What is ELISA?
This chromosomal translocation results in unregulated kinase activity, leading to chronic myelogenous leukemia
What is t(9,22), aka the Philadelphia chromosome?
Explains how the same gene can yield different mRNA in different tissues
What is alternative splicing?
Autosomal dominant disease resulting in polyglutamine insertions
What is huntington disease?
This kinase prevents delivery of the initiator tRNA to the pre-initiation complex when heme is low, resulting in low B globin synthesis.
What is HRI kinase?
Analysis technique that can be used to detect changes in size and abundance of RNA i.e to detect splicing errors
What is a Northern blot?
Sis (encodes PDGF), HER2 (GFR), Ras (G protein), and myc (transcription factor) are all examples of this
Disease treatment involving a DNA oligonucleotide that prevents exon 7 splicing, resulting in functioning of a normally inactive protein?
What is Spinraza (aka Nusinersen) for SMA pts?
Disease commonly from the in-frame deletion of one phenylalanine, resulting in a mis-folded, mis-targeted, or nonfunctional ion channel
What is cystic fibrosis?
This part of a virus is recognized by Drosha and Dicer and processed into siRNA, which RISC uses to attack the virus.
What is Viral dsRNA?
Genomic analysis studying populations of more common disease
What is genome wide analysis?
Disease treatment causing exon skipping to restore the reading frame and result in a partially functional protein (rather than no protein at all)
What is antisense DNA therapy for DMD?
Deletion of 1 thymine in this tumor suppressor involved in dsDNA break repair can result in a frameshift mutation
What is BRCA2?
Less translation of ferritin occurs when iron is high because the iron responsive protein binds in this location, creating steric hindrance for translation initiation.
What is the iron responsive element in the 5'UTR of ferritin mRNA?
Viral gene therapy that can hold a large amount of DNA and integrates into the host cell? (i.e. CAR T-cell therapy for acute lymphoblastic leukemia)
What is RNA retroviral gene therapy?
This protein is recruited under normoxic conditions when HIF is proline-hydroxylated, and causes HIF degradation via ubiquitin-proteasome degradation
What is Von Hippel Lindau (VHL) protein?
Some patients with this disease have a G to A mutation at the 5' splice site, resulting in leftover intron in the mRNA and possibly a truncated protein
Planar molecules whose insertion impairs DNA fidelity, possibly leading to insertions, deletions, or frameshift mutations
What are intercalating agents?
siRNA therapy targets this normally functioning but overexpressed gene to treat acute hepatic porphyrias
What is ALA synthase?
CRISPR-Cas9 can "knock out" DNA through this repair pathway
What is Non-homologous end joining?
This kind of tumor virus contains viral long terminal repeats which upregulate host proto-oncogenes
What are Non-defective RNA-tumor viruses (i.e. murine leukemia?)