Lecture 6: Gene Expression 1 Flashcards
what are the stages of DNA translation
1: transcription and transcriptional control
2: RNA transcript makes mRNA
3: RNA transport and localisation
4: translation and translational control
5: protein modification, eg phosphorylation
6: RNA degradation
what does RNA polymerase I do
transcribes most ribosomal RNA genes
what does RNA polymerase II do
transcribes protein-coding genes, some microRNA genes and some for small RNAs, eg those in spliceosomes
what does RNA polymerase III do
- transcribes tRNA genes and 5s RNA genes
- too much RNA polymerase III causes excess tRNAs, which increases cancer progression
how do we know most mRNAs require RNA polymerase II
amanita phalloid inhibits RNA polymerase II and causes death by massive liver failure
what is required for transcription to begin
1: basal transcription factors bind to promoter region
2: RNA polymerase binds to TATA box of promoter region
3: C-terminal domain on RNA polymerase is phosphorylated and complexes of proteins bind in the right order
what are enhancers
- binding sites for activator proteins, that can be a long way from promoter region
- DNA loops round, so biding sites can be far away from the gene they activate
what is fragile X syndrome caused by
- expansion of CGG repeats, resulting in methylation of DNA in promoter region so RNA polymerase can’t bind properly
- normal allele has 6-54 repeats
- premutated has 55-200
- full mutation has >200
what are symptoms of fragile X syndrome
- large protruding ears
- hyperextensible finger joints
- double-jointed thumbs
- macro-orchidism (large testes)
- learning difficulties
- autism
what is alpha-thalassemia caused by
- mutation of ATRX genes
- ATRX is a protein that unwinds DNA, and when ATRX is mutated, the genes for multiprotein complexes don;t get transcribed
how are RNAs modified
- capping, where a structure is added to the RNA to prevent it from degrading
- splicing, where spliceosomes (guided by splicing RNAs) remove introns. Removed introns are called lariats
- polyadenylation
effects of incorrect splicing
- beta thalassemia, resulting from aberrant processing
- mild cystic fibrosis where an exon is removed as an intron
- familial isolated growth hormone deficiency type II due to exon skipping
how does polyadenylation work
- when RNA is almost transcribed, a specific polyadenylation sequence is recognised by a protein complex which bind to it
- RNA is cleaved and a poly A tail is added onto the 3’ untranslated region
- the poly A chain is important for translation and transportation of RNA