6 - ICH - Cellular control Flashcards

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1
Q

State the different forms of gene mutation that can occur

A

Substitution

Addition

Deletion

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2
Q

Define:

Gene mutation by:

  1. Substition
  2. Deletion
  3. Addition
A

Substition = A mutation where ≥1 nucleotides are substituted for another in a DNA strand

Deletion = A mutation where ≥1 nucleotides are deleted and lost from the DNA strand

Addition = A mutation where ≥1 nucleotides are added into the DNA strand

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3
Q

Define Mutation

A

Mutation = Spontaneous change to the sequence of nucleotides

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4
Q

What can a gene mutation result in?

A

The change in the DNA base sequence may result in a difference in the amino acid sequence of the subsequent polypeptide.

  • This could result in a Non-functional protein
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5
Q

What are mutagenic agents? Give another name for them?

Examples (2)

A

Mutagenic agents (mutagens) = External factors that increase the basic mutation rate

E.g

  • High neergy radiation that can disrupt the DNA molecule
  • Chemicals that alter DNA structure or interfere with transcription
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6
Q

Are mutations passed onto the next generation?

A
  • Mutation in body cells are NOT passed onto the next generation
  • Mutations occuring during the formation of gametes may be inherited, often producing sudden and distinct differences between indiviuals
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7
Q

Effect of substitution? + Example

A

May change a single amino acid in the polypeptide chain.

  • May have no effect because DNA code is degenerate - more than one trip codes for each amino acid
  • May have a dramatic effect e.g. a substitution of one base in the gene coding for ß chains in haemoglobin molecules causes sickle cell anaemia
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8
Q

Effect of deletion and addition?

A

Have a much more dramatic effect than substitution

  • Gain or loss of a base will affect every triplet after the effected base in the sequence = Frame-shift
  • Results in the alteration of the entire amino acid sequence following mutation. Tertiary structure is likely ro change and thus results in a non-functional protein
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9
Q

Effect of mutations on the way a protein functions

  • Neutral (2)
  • Harmful (2)
  • Beneficial (4)
A

Neutral:

  • Might’ve occured in non-coding part of DNA
  • Degenerate nature of DNA code may mean the new codon still codes for the same amino acid as more than one triplet codes for each amino acid ∴ no effect on protein shape or function

Harmful:

  • Mutated gene may produce new vresion of allele of a gene
  • Many mutated genes give rise to genetic diseases e.g. sickle cell anaemia

Beneficial:

  • Some mutations produce beneficial alleles
    • e.g. Decrease in melanin production in the skin of early humans migrating temperature climates, results in paler skin allowing more Vitamin D to be made in the skin in climates with less sunshine
    • People with dark skin cannot make as much vitamin D and suffer from rickets
    • Paler skinned people would have a survival advantage over dark skinned people in areas of less sunshine
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10
Q

What is a Point mutation?

What are the 3 types of point mutation?

A

Point mutation

  • Mutations where only one base is affected
  • 3 Types
    • Silent mutation - No change in amino acid sequence of polypeptide
    • Missense mutation - Mutation changes code for 1 amino acid ∴ 1 amino acid in sequence changes
    • Nonsense mutation - Mutation changes the code turning the triplet into a stop codon ∴ polypeptide is shorter than expected
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11
Q

What is gene regulation?

A

Gene regulation = Controlling whether a gene is being expressed or not

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12
Q

Why is gene regulation needed and who is it needed for?

A

Gene regulation is required for eukaryotic and prokaryotic cells to specialise and work in a coordinated way

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13
Q

State the 4 mechanisms used to regulate gene expression (give a brief decription of what each does)

A
  • Transcriptional - Genes an be turned on/off
  • Post-transcriptional modification - mRNA can be modified which regulated translation and the types of polypetide/ protein produced
  • Translational - Translation can be stopped/started
  • Post translational modification - Proteins can be modified after synthesis which changes their functions
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14
Q

What is an operon?

A

Operon = Section of DNA that contains a cluster of structural genes that are all transcribes together

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15
Q

State an example of using transcription to regulate genes

A

Lac operon

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16
Q

What is the Lac Operon - background

A

Lac Operon is a DNA base sequence that controls the production of enzymes needed for lactose metabolism in E.Coli bacteria.

These enzymes include:

  • ß Galactoside Permease (lactose permease) - Enables the cell to take up lactose
  • Lactase (ß Galactosidase) - hydrolyses lactose → glucose + galactose
17
Q

Lac Operon:

What happens if the E.Coli is grown on:

  1. Medium containing only glucose
  2. Medium containingonly lactose
A
  • Medium containing only glucose
    • Doesn’t produce lactose permease or lactase
    • Genes that code for them are not expressed
  • Medium containingonly lactose
    • Genes are switched on and both enzymes are produced
18
Q

Lac Operon:

What makes up the lac operon? (3)

A
  • Structure genes - Comprises the length of DNA with base sequences needed to produce the mRNA that codes for the polyptptides that make up the 2 enzymes lactase and lactose permease
  • Protomer - Portion of DNA to which the enzyme RNA polymerase attaches to in order to begin the process of transcription of mRNA
  • Operator - Allows promoter to work if nothing is bound to it. A repressor switches off the operator
19
Q

What is repressor and is it a part of the lac operon?

What is it’s role in the lac operon?

A

A repressor is a protein moelecule coded for by a regulatory gene that is NOT a part of the lac operon

Role:

The repressort has 2 binding sites:

  • One is complementary to operator DNA so it binds with it preventing RNA polymerase from binding to the promoter ∴ structural genes are not being expressed ∴ mRNA can’t be transcribed ∴ no enzymes produced
  • One is complementary to the lactose and when it’s bound to it, the repressor protein changes shape and can’t bind to the operator ∴ meaning that RNA polymerase can bind to promoter and transcription can take place. Structural genes are expressed ad enzymes are produced
20
Q

List 3 advantages of being able to switch off genes

A
  • Save energy
  • Amino acids can be used to make vital proteins
  • No space wasted for extra enzymes
21
Q

What happens are the lac operon?

  1. Lactose is NOT present
  2. Lactose is present
A

LACTOSE NOT PRESENT:

  1. Regulatory gene is expressed and the lac repressor, which is a transcription factor that binds to the operator site when there’s no lactose present
  2. This blocks transcription as RNA polymerase can’t bind to promoter

LACTOSE PRESENT:

  1. Lactose binds to repressor gene, changing the repressor’s shape ∴ no longer complementary to operater site
  2. RNA polymerase binds to promoter, transcription of structural genes begin
22
Q

Transcriptional level control:

  • Eukaryotes
  • Prokaryotes
A

Eukaryotes:

  • Transcription factors bind to specific DNA sites near the start of their target genes
    1. Transcription factor binds to a specific DNA site near the start of the taget gene
    2. RNA polymerase binds to complex
    3. Transcription starts

Prokaryotes:

  • Transcription factors binding to operons e.g. lac operon
23
Q

What is chromatin?

What is chromatin subsivided into + what is different about the 2 types?

A

Chromatin = Uncondensed DNA in a complex with histones

  • Heterochromatin = Tightly would DNA causing chromosomes to be visible during cell division
  • Euchromatin = Loosely wound DNA present during interphase
24
Q

Without any modification why can euchromatin be transcribed but not heterochromatin?

A
  • Euchromatin is loosely wound DNA so can be transcribed
  • Heterochromatin is tightly wound DNA so RNA polymerase can’t access the genes ∴ heterochromatin must be modified in order for their respective genes to be transcribed
25
Q

What type of gene modification is histone modification?

Purpose?

A
  • Histone modification = transcriptional control
  • DNA coils around histones because they’re positively charged and DNA is negatively charged
  • Histones are modified to increase or decrease the degree of packing (condensation)
  1. Adding acetyl groups (acetylation) or phosphate groups (phosphorylation) makes it more negative
    • Causes DNA to coil less tightly ∴ allows genes to be transcribed
  2. Adding methyl groups (methylation) makes histones more hydrophobic
    • Bind more tightly to each other causing DNA to coil more tightly ∴ prevent gene transcription
26
Q

Describe the role of cyclic AMP (cAMP) in post transcriptional. pre translational control

A
  • Binding of RNA polymerase only results in a relatively slow rate of transciption which needs to be increased to produce the required amount of enzyme to metabolise lactose efficiently
  • Achieved by the binding of cAMP receptor protein (CRP)
    • CRP can only bind when it in turn is bound to cAMP
27
Q

Relationship between the concentrations of cAMP, lactose and glucose?

A
  • Transport of glucose into an E.Coli decreases the levels of cAMP
  • Reducing level of transcription of genes responsible for metabolism of lactose
  • ∴ means that if both lactose and glucose are present it will favour metabolising glucose over lactose
28
Q

State and explain the 2 methods of post transcription/ pre translational control:

Method 1 (4)

Method 2 (2)

A

RNA Processing:

  • Transcription results in the production of the precursor molecule pre-mRNA (contains introns) which needs to be modified into mature-mRNA (no introns)
  • A Cap = modified nucleotide, is added onto 5’ end and a string of adenine bases onto the 3’ end in order to stabalise it and prevent degradation in cytoplasm
  • Splicing occurs where introns are removed to form mature-mRNA
  • Occurs in nucleus

RNA Editing:

  • Nucleotide sequences of some mRNA molecules can be changed through addition, deletion and substitution
  • Increases the range of proteins produced, which may have different functions that can be produced from a single mRNA molecule or gene
29
Q

Name the 3 main mechanisms involved with regulating the process of protein synthesis in translational control

A

Degradation of mRNA

  • The more resistant the molecule the longer it will last in the cytoplasm and the greater the quantity pf protein will be synthesised

Binding proteins to mRNA

  • Prevents it binding to ribosomes and the synthesis of proteins

Activation of initiation factors

  • May aid the binding of mRNA to ribosomes
  • The eggs of many organisms produce large quantities of mRNA which is not required until after fertilisation, at which point initiation factors are activated
30
Q

4 examples of post trasnplational control

A
  • Addition of non-protein groups e.g. carbohydrate chains, lipids or phosphates…
  • Modifying amino acids and formation of disulphide bridges
  • Folding or shortening of proteins
  • Modification by cAMP - cAMP is required for protein activation providing the energy required for a protein to form its tertiary structure