Cellular Control Flashcards
Gene mutation?
Change in the sequence of base pairs in a DNA molecule that may result in an altered polypeptide
What are mutagens?
Factors that can increase probability of a mutation occurring
E.g
Ionising radiation - X-rays break DNA strands which are altered in repair process
Deaminating chemicals - alter chemical structure of bases (convert one base to another)
Methyl/ethyl group added to bases - lead to incorrect base pairing
Viruses - insert section of viral DNA into DNA of cells
Why do most mutations have no effect on us?
Most don’t alter polypeptide/alter it very slightly so structure/function doesn’t change
- bc the genetic code is degenerate - several triplets code for same amino acid
- many mutations occur in non-coding sections of DNA so have no effect on amino acid sequence
3 ways a mutation can occur?
Insertion of on/more nucleotides
Deletion of one/more nucleotides
Substitution of one/more nucleotides
How are insertions harmful?
Nucleotide randomly inserted into DNA sequence
Creates different triplet of bases - changes amino acid that would’ve been coded for
- also changes triplets further on in DNA sequence - FRAMESHIFT MUTATION
Dramatic change in amino acid sequence therefore ability of polypeptide to function
How are deletions harmful?
Nucleotide randomly deleted from DNA sequence
- changes amino acid that would’ve been coded for
- causes FRAMESHIFT mutation
Dramatic change to amino acid sequence/ability for polypeptide to function
Why is a substitution mutation harmful?
When a base in DNA sequence randomly swapped for a different base
- only change that triplet (where mutation occurs) - changes only the amino acid coded for by that triplet
3 forms:
Silent
Missense
Nonsense
What are silent mutations?
Mutation wont alter amino acid sequence of the polypeptide (bc code is degenerate)
What are missense mutations?
Mutation alters a single amino acid in the polypeptide chain
(E.g sickle cell anaemia)
What are nonsense mutations?
Mutation creates a premature stop codon (signal for cell to stop translation of mRNA molecule into amino acid sequence)
- causes polypeptide chain produced to be incomplete/ affecting final protein structure and fucntion
E.g cystic fibrosis
What are beneficial mutations ?
Beneficial: alteration to polypeptide results in altered characteristic that causes beneficial effects for the organism
E.g mutation for lower production of melanin meant vitamin D was synthesised easier in lower sunlight intensities
What are harmful mutations?
Harmful: mutation leads to altered characteristic that has harmful effects on organism
E.g cystic fibrosis - deletion of 3 nucleotides in gene coding for CFTR protein
What are neutral mutations?
Offer no selective advantage/disadvantage to the organism BC:
- mutation only affect polypeptide slightly /does not alter it at all
- mutation alters polypeptide but difference in characteristic provides no advantage/disadvantage to them
What are regulatory mechanisms?
Mechanisms inside cells that make sure correct genes are expressed in the correct cell at the correct time
3 types of regulatory mechanisms?
Regulation at the transcriptional level (i.e. regulatory mechanisms that occur during transcription)
Regulation at the post-transcriptional level (i.e. regulatory mechanisms that occur after transcription)
Regulation at the post-translational level (i.e. regulatory mechanisms that occur after translation)
These mechanisms are controlled by regulatory genes
What are structural and regulatory genes?
Structural: codes for a protein that has a function within a cell
Regulatory: codes for proteins (or forms of RNA) that control the expression of structural genes
What is Lac Operon ?
Structural genes in prokaryotes form an operon —> group/cluster of genes that are controlled by same promoter
- lac operon is one of these
Controls production of lactase (aka β-galactosidase)/2 other structural proteins
Why is lactase an inducible enzyme and how is this beneficial ?
It’s only synthesised when lactose is present
- prevent bacteria wasting energy /materials
Structure of lac operon?
In the following order, it consists of:
PROMOTER for structural genes
Operator - DNA sequence that transcription factors (repressor) binds to
Structural gene lacZ- Code for lactase (hydrolyse lactose —> galactose + glucose)
Structural gene lacY - code for permease (allow lactose into cell)
Structural gene lacA- code for transacetylase
Next to lac operon:
promoter for regulatory gene
regulatory gene lacl - codes for lac repressor protein
How does lac repressor protein work ?
Has 2 binding sites so can bind to OPERATOR on lac operon AND lactose
If binds to operator: prevents transcription of structural genes , as RNA polymerase cannot attach to PROMOTER
If binds to lactose : shape of repressor protein distorts —> CANNOT BIND TO OPERATOR
Genetic control of a inducible enzyme at the transcriptional level:
Process on lac operon when lactose is absent ?
- Regulatory gene is transcribed/translated to produce LAC REPRESSOR PROTEIN
- Lac repressor protein binds to operator
- Due to this, RNA polymerase cannot bind to promoter region
- Transcription of structural genes does not take place —> NO LACTASE SYNTHESISED
Genetic control of an inducible enzyme at transcriptional level:
Process on lac operon when lactose is present?
When lactose present in the medium the bacterium is growing in:
1. Lactose taken up by bacterium
2. Lactose binds to 2nd binding site on repressor protein —> distort repressor’s shape —> cannot bind to operator site
3. RNA polymerase can bind to promoter region + TRANSCRIPTION of structural genes TAKES PLACE
4. MRNA from all 3 structural genes translated
LACTASE PRODUCED / lactose broken down and used for energy
Process of genetic control for a repressible enzyme?
Opposite of the lac operon
Effector present: Effector molecule (like lactose) binds to repressor protein
BUT INSTEAD , helps repressor to bind to operator region —> prevent transcription of structural genes
Less/no effector present: repressor cannot bind to operator / TRANSCRIPTION GOES AHEAD - enzyme produced
How do eukaryotes control gene expression?
Use TRANSCRIPTION FACTORS - proteins that bind to specific regions of DNA to control transcription of genes
- control which genes in cell are turned on/off