Gene Organisation and Transcription Flashcards

1
Q

Define transcription:

A

process in which nucleotide information in DNA is copied into RNA

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2
Q

Define a gene

A
  • unit of inheritance
  • Housekeeping genes: expressed in all cells, needed for - normal cell function
    25% of genes expressed in cell required for cell specific function
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3
Q

Define genome:

A
  • complete DNA sequence of an organism
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4
Q

What are the different types of RNA?

A
  • Functional: tRNA, rRNA, snRNA

- Template for translation: mRNA

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5
Q

What are the types of RNAases?

A

RNAP I: transcribes rRNA genes
RNAP II: transcribes genes encoding proteins in mRNA
RNAP III: transcribes tRNA and 5S RNA genes (large ribosomal subunit)

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6
Q

What is transcription factor:

A
  • DNA binding proteins, special gene regulators, regulate amount of transcription (activators/repressors)
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7
Q

What to TFs do?

A
  1. bind to binding sites and bend DNA
  2. Interact with one another and BTC to modulate transcription
  3. Facilitate transcription by helping remodel chromatin and recruiting proteins with enzyme activity that modify histones
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8
Q

What is a gene promoter?

A

sequence at which transcription complex assembles

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9
Q

What is the initiation step?

A

elongation reaction of RNA synthesis to build BTC

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10
Q

What is the structure of the gene promotor?

A

see notes

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11
Q

What occurs during hypo and hyperacylation?

A

Hyperacylation: gene expression/ open histones
Hypoacylation: gene repression/ closed histones

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12
Q

What is the function of the BTC?

A

Low level of transcription in absence of other TF, binding site controls rate

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13
Q

What is the structure of TFIID?

A

TATA binding protein (TBP) + TBP accessory factors (TAFs)

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14
Q

How does the BTC assemble?

A

see notes

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15
Q

What are the factors affecting gene expression?

A
  1. Cell lineage: developmental history of cell traced back to parent cell
  2. Alterations by signals outside of cell eg. Hormones, growth factors, mechanical stress
  3. Mutated TF (implicated in gene disorders)
  4. Abnormal TF expression
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16
Q

At what other levels may gene expression occur?

A
  • Transcription
  • RNA processing
  • RNA transport
  • RNA turnover
  • Translational
  • Protein activity
17
Q

What are the splice donor and splice acceptor sites?

A

Splice donor site: conjunction between exon and intron - end of exon/start of intron
Splice acceptor site: junction between intron and exon - end of intron/start of exon

18
Q

What does mRNA processing use?

A

small ribonuclear proteins - snRNP

19
Q

What does an intron start with?

20
Q

What does an exon start with?

21
Q

What is a spliceosome?

A

all snRNP together

22
Q

Which snRNP causes cleavage of the donor sequence?

A

U5 binding to splice acceptor site

23
Q

What is the structure of pre- mRNA?

A
  • Promotor on 5’ (left arrow of picture)
  • Sequence in final mRNA coded discontinuously in DNA
  • Exons in the order they are in in DNA
24
Q

Where does processing occur?

A

in nucleus

25
How does splicing occur?
see notes
26
What is the function of the cap?
- Helps ribosome attach to mRNA and translate - Protects transcript from being broken down - Greatly enhances mRNA translation
27
How is the cap formed?
1. Formed by hydrolysis of terminal triphosphate of mRNA to diphosphate - alpha phosphate of GTP to form 5'-5' phosphate linkage 2. Further modified by methylation at N7 position in purine ring to form methylguanylate cap
28
What is the structure of the tail?
- addition to 3' end of pre-mRNA one base at a time | - Added 11-30 bases downstream from AAUAAA sequence of mRNA
29
What are examples of diseases with mutations in splice cap?
Polio, Thalessemia, Duchenne muscular dystrophy
30
What are the symptoms of thalessemia?
- Hemoseriderosis (Fe overload) - inc Fe absorption b/c chronic anaemia so hepatic fibrosis and cirrhosis, skin darkening, cardiomyopathy - Extramedullary hematopoieisis - formation of blood's cellular components outiside bone medulla - Hepatomegaly/hepatosplenomegaly