Lecture 6: Gene Expression 1 Flashcards

1
Q

what are the stages of DNA translation

A

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

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2
Q

what does RNA polymerase I do

A

transcribes most ribosomal RNA genes

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3
Q

what does RNA polymerase II do

A

transcribes protein-coding genes, some microRNA genes and some for small RNAs, eg those in spliceosomes

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4
Q

what does RNA polymerase III do

A
  • transcribes tRNA genes and 5s RNA genes

- too much RNA polymerase III causes excess tRNAs, which increases cancer progression

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5
Q

how do we know most mRNAs require RNA polymerase II

A

amanita phalloid inhibits RNA polymerase II and causes death by massive liver failure

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6
Q

what is required for transcription to begin

A

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

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7
Q

what are enhancers

A
  • 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
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8
Q

what is fragile X syndrome caused by

A
  • 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
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9
Q

what are symptoms of fragile X syndrome

A
  • large protruding ears
  • hyperextensible finger joints
  • double-jointed thumbs
  • macro-orchidism (large testes)
  • learning difficulties
  • autism
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10
Q

what is alpha-thalassemia caused by

A
  • 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
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11
Q

how are RNAs modified

A
  • 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
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12
Q

effects of incorrect splicing

A
  • 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
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13
Q

how does polyadenylation work

A
  • 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
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