6 - ICH - Cellular control Flashcards
State the different forms of gene mutation that can occur
Substitution
Addition
Deletion
Define:
Gene mutation by:
- Substition
- Deletion
- Addition
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
Define Mutation
Mutation = Spontaneous change to the sequence of nucleotides
What can a gene mutation result in?
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
What are mutagenic agents? Give another name for them?
Examples (2)
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
Are mutations passed onto the next generation?
- 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
Effect of substitution? + Example
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
Effect of deletion and addition?
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
Effect of mutations on the way a protein functions
- Neutral (2)
- Harmful (2)
- Beneficial (4)
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
What is a Point mutation?
What are the 3 types of point mutation?
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
What is gene regulation?
Gene regulation = Controlling whether a gene is being expressed or not
Why is gene regulation needed and who is it needed for?
Gene regulation is required for eukaryotic and prokaryotic cells to specialise and work in a coordinated way
State the 4 mechanisms used to regulate gene expression (give a brief decription of what each does)
- 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
What is an operon?
Operon = Section of DNA that contains a cluster of structural genes that are all transcribes together
State an example of using transcription to regulate genes
Lac operon