Biology 6.1 Flashcards

1
Q

Point mutation

A

The bases substitute

Are made up of silent, missense and nonsense mutations

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2
Q

Indel mutation

A

Bases are inserted and deleted
This causes frameshift
The bases aren’t inserted in groups of 3

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3
Q

Silent mutation

A

The base trirplet changes but still codes for the same amino acid
This is because the code is degenerate

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4
Q

Missense mutation

A

The base triplet changes and codes for a different amino acid

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5
Q

Nonsense mutation

A

The base triplet changes and codes for a stop/termination triplet

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6
Q

What are transcription factors?

A

They control when genes are on or off

They bind to a specific promoter region

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7
Q

What are introns?

A

They are non coding regions in primary mRNA

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8
Q

What are exons?

A

Coding regions in mRNA

They are expressed

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9
Q

What happens in post transcriptional gene regulation?

A

The mRNA in edited and the introns are removed by splicing

Then the exons are joined by the endonuclease enzyme

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10
Q

What are homeotic genes?

A

Genes that control anatomical development

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11
Q

What are homeobox genes?

A

They are 180 base pairs that code for the homeodomain sequence

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12
Q

What is the homeodomain sequence?

A
  • A strand of 60 amino acids that act as transcription factors
  • They bind to promoter or enhancer regions and promote or inhibit transcription of the homeotic genes
  • They are made up of 3 alpha helices
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13
Q

What are hox genes?

A
  • Genes that are only in animals
  • Highly conserved
  • They control where body parts grow along anterior-posterior axis
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14
Q

What is colinearity?

A

Sequential temporal order of gene expression

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15
Q

How are hox genes regulated?

A

Regulated by gap genes and pair rule genes

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16
Q

What is the lac operon?

A

An operon that works in E. coli bacteria, that can produce enzymes needed to break down lactose if glucose isn’t present

17
Q

What enzymes does the lac operon code for?

A

Lactose permease

Beta galactosidase

18
Q

What happens at the lac operon when glucose is present?

A
  • Regulatory Gene (I) codes for a repressor protein
  • THe repressor protein binds to operator
  • THis means RNA polymerase can’t bind to promoter region
  • No MRNA made so genes Lac Z and Lac Y are off
19
Q

What are the genes that code for the enzymes?

A

Lac Y and Lac Z

20
Q

What happens at the lac operon when only lactose is present?

A
  • Lactose binds to repressor protein
  • This means the repressor protein can’t bind to operator
  • RNA polymerase can bind to promoter
  • MRNA is made so enzymes break down lactose
21
Q

How are proteins activated?

A
  • Signalling molecule binds to receptor
  • The G protein activated
  • Adenyl cyclase enzymes turn ATP to cAMP
  • CAMP activates PKA
22
Q

What does PKA do?

A
  • Catalyses phosphorylation of enzymes
  • Hydrolyses ATP
  • Phosphorylates CREB which is a transcription factor
23
Q

How does apoptosis work?

A
  • Cytoskeleton breaks down
  • Blebs (small protrusions) form
  • DNA/ nuclear envelope break down
  • Cell turns into vesicles
  • Phagocytes ingest vesicles
24
Q

How is apoptosis controlled?

A

By signalling molecules

  • Cytokines
  • Hormones
  • Growth factors
  • Nitric oxide
25
How does nitric oxide control apoptosis?
- It makes the inner mitochondrial membrane more permeable so the proton gradient dissipates - Proteins are released - The proteins bind to apoptosis inhibitor proteins so apoptosis occurs
26
What is a promoter?
DNA sequence that RNA polymerase binds to | Located before the structural gene
27
What is the operator?
DNA sequence that transcription factors bind to
28
What are factors that increase the rate of transcription called?
Activators
29
What are factors that decrease the rate of transcription called?
Repressors
30
What does the regulatory gene do?
Codes for the repressor or enhancer
31
What causes apoptosis?
DNA damage during the cell cycle Stress due to lack of nutrient availability Attack by a pathogen
32
Why might mutations have a neutral effect on a proteins function?
Degenerate sequence so codes for the same amino acid That amino acid could be far from the active site/not involved in its function Could code for an amino acid that is chemically similar
33
What is a beneficial mutation?
Bacteria becoming resistant to antibiotics
34
What is a harmful mutation?
Cyctic fibrosis where the gene coding for CFTR protein mutates, leading to excess mucus production in the lungs