Module 6- Cellular control Flashcards
Definition of a mutation
Changes in the base sequence of DNA
What can mutations be caused by?
Insertion, deletion, substitution
Are mutations often more harmful or beneficial?
Harmful because they interrupt the normal functioning of a protein
Definition of a point mutation
When only 1 nucleotide is affected as 1 base is substituted
What will happen if the new codon codes for a different amino acid?
A change in the primary structure of the protein will occur
What does degenerate mean?
The new codon may still code for the same amino acid leading to no change in the protein synthesised
What is a frame shift?
When the reading frame of the sequence of bases shifts due to an insertion or a deletion. This will change every successive codon from the point of mutation due to the DNA being non overlapping. The same effect is seen no matter how many bases are added or deleted unless it is a multiple of 3 where the reading frame will not be shifted but the protein formed will still be affected as a new amino acid is added/ deleted
What does non overlapping mean?
Each base is read only once and adjacent codons don’t overlap
What are the 3 point mutations and explain them?
-silent mutations-if 1 base is substituted and the triplet codon changes but still codes for the same amino acid
-nonsense mutation-if the point mutation results in the generation of a stop codon. It will generated a truncated protein that will not be able to carry out its function
-missense mutation-if the change in base sequence leads to a change in amino acid sequence. This changes the primary structure, therefore the secondary and tertiary structure may also change
Effects on mutations
no effect- no effect on the phenotype of the organism because normally functioning proteins are still synthesised.e.g whether your earlobe is attached or not has no advantage/disadvantage
negative effects- the phenotype of an organism is effected negatively because proteins are no longer synthesised or are not functional. This can interfere with an essential process e.g sickle cell anaemia results in red blood cells being sickle shape and aren’t as efficient at transporting oxygen around the body.
positive effects-very rarely is a protein synthesised that has a beneficial characteristic in the phenotype e.g mutation in the lactose gene allows adults to digest lactose
What is a mutagen?
chemical, physical or biological agent which causes mutations
What is a chemical mutagen?
deaminating agent chemically alter bases in DNA such as converting cytosine to uracil in DNA changing the base sequence
What is a physical mutagen?
ionising radiation such as X rays break one or both of the DNA strands. Some breaks can be repaired but mutations can occur in the process
What is a biological mutagen?
-alkylating agents-methyl or ethyl groups are attached to bases resulting in the incorrect pairing of bases during replication
-base analogs-incorporated into DNA in place of the usual base during replication, changing the base sequence
-viruses-viral DNA may insert itself into a genome, changing the base sequence
What is a somatic mutation
mutation during mitosis
it is not passed onto offspring as occurs within a body cell
What are the 4 chromosome mutations and explain them?
Deletion-a section of chromosomes breaks off and is lost within the cell
Duplication-sections get duplicated on a chromosome
Translocation- a section of one chromosome breaks off and joins another non-homologous chromosome
Inversion- a section of chromosome breaks off, is reveresed and then joins back onto the chromosome
What are chromosome mutations?
-can arise spontaneously during meiosis
-these will be passed onto offspring as occurs within a gamete cell
-will affect the whole chromosome or number of chromosomes
What are the 2 types of genes in gene regulation and what do each of these code for?
Housekeeping genes- enzymes which are necessary for a metabolic reaction for basic cellular function like respiration are constantly required so are synthesised at a relatively constant rate
Tissue specific genes- if an enzyme is required for a reaction that only happens at certain times and at varying rates are not constantly required
Are the stimuli that produce change in gene expression and responses more complex in prokaryotes or eukaryotes?
Eukaryotes because multicellular organisms not only have to respond to changes in the internal environment but also the external environment
Why do we need gene regulation?
so cells are able to specialise and work in a coordinated way. Also to prevent vital resources from being wasted
What are the 3 levels of gene regulation and briefly explain them
Transcriptional-genes can be turned on/off
Post transcriptional- mRNA can be modified which regulates translation and the types of protein produced
Post translational-proteins can be modified after synthesis which changes their functions
Are operons more common in prokaryotes or eukaryotes?
Prokaryotes due to their smaller and simpler structure of genomes
Explain operons and their functions
-Bacterial genes are often organised into common pathways called operons for more coordinated regulation of expression
-An operon is a group of genes that function as a single transcription unit and are controlled by the same promoter
-The operon includes a regulatory gene that codes for a receptor protein which binds to the operator in turn preventing RNA polymerase transcribing the gene of interest
What are the 3 types of regulatory molecules that affect the expression of operons in prokaryotes?
Repressors- proteins that suppress transcription of a gene in a response to an external stimulus
Activators- proteins which increase transcription of a gene in response to an external stimulus
Inducers- small molecules that activate or repress transcription depending on the needs of the cell and substrate availability
What is a lac operon?
An inducable operon that contains the genes necessary to acquire and process lactose from the environment.
Why are lac operons useful for E coli bacteria?
It can hydrolyse lactose products of glucose and galactose can be used as a respiratory substrate.
What are structural genes?
proteins that have a cellular function
What are regulatory genes?
code for proteins that control the expression of structural genes