8A - Mutations and Gene Expression Flashcards
What is a mutation?
A change to the base sequence of DNA in an organism.
What causes mutations?
Errors during DNA replication.
What can increase the rate of mutation?
Mutagenic agents
What are the different types of mutation?
- Substitution
- Deletion
- Addition
- Duplication
- Inversion
- Translocation
In mutations, what is substitution?
When one or more bases are swapped for another.
e.g. ATGCCT becomes ATTCCT
In mutations, what is deletion?
When one or more bases are removed.
e.g. ATGCCT becomes ATCCT
In mutations, what is addition?
When one or more bases are added.
e.g. ATGCCT becomes ATGACCT
In mutations, what is duplication?
When one or more bases are repeated.
e.g. ATGCCT becomes ATGCCCCT
In mutations, what is inversion?
When a sequence of bases is reversed.
e.g. ATGCCT becomes ACCGTT
In mutations, what is translocation?
When a sequence of bases is moved from one location in the genome to another.
Is translocation always within the same chromosome?
No, it can be between chromosomes too.
How does a mutation cause a protein to be non-functional?
- Mutation is a change in the DNA base sequence
- This may change the amino acids that that DNA codes for
- This means that the amino acid sequence is different
- Therefore, the bonds formed are different, so the tertiary structure is different
- This makes the protein non-functional
Give an example of a mutation causing a genetic disorder.
Cystic fibrosis
Give an example of a mutation increasing the likelihood of developing a cancer.
BRCA1 gene mutations can increase the risk of breast cancer.
What is a hereditary mutation?
A mutation that is passed through gametes to the next generation.
Remember to revise the AS mutation flashcards.
Do it. Also see pgs 194-195.
What are mutagenic agents?
Factors that can increase the rate of DNA mutation.
What are the 3 ways in which mutagenic agents work?
1) Acting as a base
2) Altering bases
3) Changing the structure of DNA
How do some mutagenic agents work by acting as a base?
- Chemicals substitute for a base in DNA replication
* This changes the base sequence
What is the name for mutagenic agents that substitute for a base?
Base analogs
Give an example of a base analog.
- 5-bromouracil
- It can substitute for thymine, but pair with guanine instead
- This effectively changes the DNA base sequence
How do some mutagenic agents work by altering bases?
- Chemicals delete or alter bases
* This changes the DNA base sequence
Give an example of a mutagenic agent that alters bases.
- Alkylating agents
- These add an alkyl group to guanine, which changes the structure so it pairs with thymine (instead of cytosine)
- This changes the effective bass sequence
How do some mutagenic agents work by changing the structure of DNA?
- Radiation changes the structure of DNA
* This causes problems during DNA replication
Give an example of a mutagenic agent that changes the structure of DNA.
- UV radiation
- This can cause adjacent thymine bases to pair up together
- This changes the effective DNA base sequence
What are acquired mutations?
Mutations that occur in individual cells after fertilisation.
What are the two types of DNA mutations?
- Hereditary
* Acquired
When are DNA mutations the worse?
When they occur in genes that control the rate of cell division. This can cause uncontrolled cell division.
What is a tumour?
A mass of abnormal cells caused by a cell dividing uncontrollably.
What is the difference between a tumour and a cancer?
A cancer is a tumour that invaded and destroys surrounding tissue.
What are the two types of gene that control cell division?
- Tumour suppressor genes
* Proto-oncogenes
What is a proto-oncogene?
A gene that stimulates a cell to divide when growth factors attach to receptors on the membrane.
What is an oncogene?
A mutated proto-oncogene which is permanently switched on.
How can a mutation in a proto-oncogene cause cancer?
- Mutations or hypomethylation causes the gene to become overactive
- A mutated proto-oncogene is called an oncogene
- This means that the proteins required to stimulate cell division are produced in abundance
- Cells divide uncontrollably
What are the two types of tumour?
- Malignant
* Benign
What are malignant rumours?
- Cancers
- They grow rapidly and invade and destroy surrounding tissues
- Cells can break off and spread to other parts of the body through blood or lymph
Why are benign tumours?
- Not cancerous
- They grow slowly
- Are often covered in fibrous tissue that atoms cells invading other tissues
Are benign tumours dangerous?
No, but they can cause blockages and put pressure on organs.
How do tumour cells look different to normal cells? (6)
1) Irregular shape
2) Larger and darker nucleus
3) Don’t produce all the proteins required for normal function
4) Different antigens
5) Don’t respond to growth regulating processes
6) Divide more frequently
What type of epigenetics is involved in cancer?
Methylation
What is the effect of hypermethylation?
Reduced transcription
What is the effect of hypomethylation?
Increased transcription
How can abnormal methylation cause tumour growth?
1) Hypermethylation of tumour suppressor genes -> The proteins they produce to slow cell division aren’t made. This means the cells are able to divide uncontrollably.
2) Hypomethylation of proto-oncogenes -> Causes them to act as oncogenes, increasing the production of the proteins that encourage cell division. This means the cells are able to divide uncontrollably.
What is the effect of increased exposure to oestrogen?
It can increase the likelihood of some breast cancer.
What can cause increased exposure to oestrogen?
Starting menstruation earlier than usual or the menopause later than usual.
What is methylation?
Adding a methyl (-CH₃) group onto something.
How can a mutation in a tumour suppressing gene cause cancer?
- Mutations or hypermethylation causes the gene to be inactivated
- This means that the proteins required to stop cell division or cause apoptosis are no longer produced
- Cells divide uncontrollably
How does oestrogen increase the risk of breast cancer?
- It activates genes by causing the release of the inhibitor molecule from the transcription factor
- If this activates a proto-oncogene in breast tissue, this causes rapid cell division, so a tumour can form and cancerous mutations are more likely to occur
- Oestrogen concentration is further increased due to there being more cells and also due to WBCs being attracted to the area
Other research also suggests that oestrogen is able to introduce mutations directly into the DNA of certain breast cells.
What are the 2 types of risk factor for cancer?
- Genetic
* Environmental
Why is it hard to draw conclusions about the causes of cancer?
- Some characteristics are affected by multiple genes and many environmental factors
- It is difficult to tell which factors are having the greatest effect
Remember to practise looking at the graphs on pg 198 to draw conclusions about the effects of different factors on breast cancer.
See pg 198 of revision guide
How can knowing about the mutation causing a certain cancer be useful in prevention of that cancer?
The mutation can be screened for:
• If it is found, then preventative steps can be taken to prevent the cancer (e.g. mastectomy)
• More sensitive tests can be developed, which can lead to earlier and more accurate diagnosis
How can knowing about the mutation causing a certain cancer be useful in treatment and cure of that cancer?
- Treatment can be made specific to the type of cancer
- How aggressive the cancer is can determine how aggressive the treatment needs to be
- Gene therapy may be able to treat some cancers caused by some mutations
What do all cells originally come from?
Stem cells
What are stem cells?
Unspecialised cells that can develop into other types of cell.