Cellular Control Flashcards
What phase of the cell cycle are mutations most likely to occur?
S phase
What can increase the rate of mutation?
Mutagenic agents which can be chemical, biological or physical like x-rays
What is a base substitution mutation?
A single nucleotide base is replaced by another.
What is a base insertion mutation?
The insertion of a single nucleotide base.
What is a base deletion mutation?
The removal of a single nucleotide base.
What is a frame shift mutation?
When after the point of mutation every base shifts which codon it’s read in.
What are types of substation mutation?
• A non-sense mutation
• A missense mutation
• A silent mutation
What is a non sense mutation?
When the codon is now a STOP codon so translation stops at the point of mutation.
What is a missense mutation?
When there is a change to a single amino acid at the point of the mutation. Could or could not change the protein
What is a silent mutation?
Is when there is no change to the primary structure of the polypeptide despite the change in the nucleotide base
The genetic code is degenerate which causes the silent mutation
What types of effects can mutations cause?
• Neutral (have no effect)
• Harmful effects
• Beneficial
What are some examples of harmful mutations?
• cancer
•genetic diseases
• FULL stickle cell - shortness of breath, fatigue, crescent moon shaped RBC’s
• nonsense mutation in DMD gene - don’t produce dystrophin protein
• HCM
What are some examples of beneficial mutations?
• often lead to evolution
• sickle cell TRAIT - resistant to malaria
• HIV resistance
Define gene expression
Conversion of the information encoded in a gene into a functional gene product (usually just a protein but sometimes just RNA)
Define gene regulation
The control of the gene expression
- switching certain protein productions on and off
Define regulatory genes
The products of these genes control the expression of structural genes
Define structural genes
They code for any RNA or protein product other than a regulatory factor
Define transcription factors
Made by regulatory genes bind to DNA near structural genes to switch genes on (activator) or off (repressor)
What is Lac operon simple?
•found in E-coli (bacteria)
• humans don’t have one
• E-coli need glucose
Describe the regulatory factors on transcriptional level?
• chromatin remodelling - if it’s loosely associated it’s called euchromatin, if it’s tightly wound it’s called heterochromatin
• transcription can only occur in euchromatin as there is space for RNA polymerase to attach to the promotor region to create mRNA strand.
• faster rate of transcription= more protein made and view versa
Describe the regulatory factors on post-transcriptional level?
• determines whether introns are removed or not
• splicing - non coding sections called introns (on pre-mRNA) are removed by being cut out with enzymes
• makes a structural product
Describe the regulatory factors on translational level?
Proteins are modified in the Golgi - can be modified so they don’t work anymore.