Cellular control Flashcards
What is a mutation
A random change to the genetic material - (DNA)
When do gene mutations occur
Spontaneously during DNA replication before mitosis
What can cause gene mutations
Certain chemicals i.e. tar in tobacco smoke, ionising radiation (UV light, X-rays, gamma rays)
What is the difference between mutations in mitosis compared to mutations in meiosis
Mitosis (somatic mutation) not passed onto offspring
Meiosis - may be inherited by offspring
What are the two main classes of DNA mutation
Point mutation: one base pair replaces (is substituted) for another
Indel mutations: Both insertions/deletions cause a frameshift
What are the three types of point mutations
-Silent
-Missense
-Nonsense
What reduces the chance of a mutations
The genetic code is degenerate - amino acids have more than one base triplet code
Silent mutations
A change in the base triplet, where the triplet still codes for the same amino acid
-The primary/secondary/tertiary structure remains unaltered
Missense mutations
A change to the base triplet sequence that leads to a change in the amino acid sequence of a protein
-Alters the primary structure thus the tertiary structure is altered and the protein will no longer be able to perform its function
Example of a missense mutation
Sickle cell anaemia - Valine on the sixth base triplet instead of glutamic acid is inserted
-Results in deoxygenated haemoglobin crystallising within erythrocytes, causing them to become sickle-shaped, which blocks capillaries and deprives tissues of O2
When may missense mutations not matter
-When the changed amino acid has a similar R group/ codon to the original
- If the changed amino acid does not make up part of the proteins active site so the protein can still perform its function
Nonsense mutations
May alter a base triplet so it becomes a termination (stop) triplet
-Results in a truncated protein that will not function
-Degraded within the cell
What disease is the result of nonsense mutations
Duchenne muscular dystrophy
What do indel mutations involve
- Insertion/deletion of a base that causes a frameshift
- Can cause expanding triplet nucleotide repeats
Insertions/deletions
- If nucleotide base pairs (not in multiples of threes) are inserted in the gene/ deleted from the gene as the code is non-overlapping and read in codons all the subsequent base triplets will be altered
-The primary and subsequently the tertiary structure will be altered and the protein will not be able to perform its function
What happens if the protein is very abnormal
It is rapidly degraded within the cell
What diseases can occur due to insertions/ deletions
thalassaemia - a haemoglobin disorder
Why is the insertion/deletion of a triplet of base pairs not an indel mutation
Results only in the gain/loss of an amino acid and not in a frame shift
Expanding triplet repeats
Amino acid triplet repeats ( - CAG,CAG,CAG-) increase in meiosis through each generation
- Five repeats could be inserted in one division and then in the next another three are added etc.
What disease occurs due to expanding triplet repeats
Huntington’s disease - when repeats go above a critical number
Why are all mutations not harmful
Some are beneficial and have helped drive evolution through natural selection.
-Different alleles of the same gene are provided via mutation
What mutations in humans are neither beneficial or harmful
- Inability to smell certain flowers i.e. freesias and honeysuckle
-Different shaped earlobes
Name the different parts of the lac operon and their function
(The control region)
Promoter region - where RNA polymerase binds to begin transcription
lac O (operator region) - Binds to the repressor gene
Name the different parts of the lac operon and their function
(Structural genes)
lac z - transcribes mRNA that will translate B galactosidase
lac y - transcribes mRNA that will translate lactose permease
B galactosidase function
Hydrolyses lactose to glucose and galactose
Lactose permease function
Allows lactose to enter the bacterial cell
Regulator gene I function
Not part of the lac operon
When switched on codes for the repressor gene
What happens on the lac operon when glucose is present
(E-coli)
1) Regulator gene I is expressed and a repressor protein is produced
2) Repressor protein binds to the operator (lac O) and prevents RNA from binding to the promoter region
3) Repressor protein prevents lax Z and lac Y from being expressed so enzymes for lactose metabolism are not made (genes are switched off)
4) This prevents waste of amino acids and energy as e-coli can respire the glucose
What happens on the lac operon when lactose is present (E-coli)
1) When lactose is added to the culture medium lactose binds to the repressor protein
2) This alters the repressor proteins shape and it can no longer bind to the operator region
3) RNA polymerase can bind to the promoter and begin to transcribe the structural genes into mRNA that will translate the two enzymes
4)E-coli can increase the uptake of lactose as it can induce enzymes to break itself down
What is the advantage of the lac operon system in e-coli only inducing the enzymes when lactose is present
It does not waste amino acids and energy to induce the production of enzymes to break down lactose as it can respire glucose when it is present and they are not needed