Details Flashcards
alpha-amanitin
non competetive inhibitor of RNA pol II - bind to bridge helix and blocks translocation
Rifampicin
blocks RNA exit channel of bacterial RNA polymerase
TFIIH clinical syndromes
XP
CS
TTD
TFIID
Binds TATA box
TFIIH
helicase activity and CDK7
Functions in both transcription and DNA repair
Abnormal CD44 splicing –>
Cancer
Example of antisense oligo rescue
spinal muscular atrophy
Promoter diseases
Beta thalassemia
Hemophilia B leyden
Fragile x (trinucleotide repeat)
Craniosynostosis
Homeodomain MSX2 - DNA binding domain - binds tighter
Androgen insensivity
Zinc finger AR - either AR BD or DNA BD - less
Waardenburg Syndrome
bHLH - MITF - melanocyte development and hearing - less
SWI/SNF (use ATP)
Disrupt octamers
N- termini histones
lysine
Somatic mutations in SWI/SNF genes –>
Cancer
Rubinstein Tabi
Haploinsufficieny of CBP (a HAT / transcriptional coactivator)
Leukemia and Gene Expression
Abnormal fusion proteins - HATS or HDACS with transcriptional regulators –> improper expression
SSBP regulation (5)
ligand nuclear entry dna access phosphorylation degradation/transcription
How does cyclosporine work?
It inhibits calcineurin
Thus, calcineurin can’t de-P NFAT
NFAT nls remain hidden
NFAT can’t go to nucleus to transcribe immune response
Example of regulating TF by amount
B-catenin
normally ubiquitinated sent to proteosome
wnt interrupts GSK3 APC/Axin - don’t P B-catenin
build-up
go transcribe
If we mutate APC what happens
Colon cancer
too much beta catenin transcribing (with TCF) too many wnt genes