6.1.1 Cellular Control Flashcards
what is a mutation
change in the sequence of bases in DNA
what are the 3 reasons why mutation might occur
substitution
deletion
insertion
- of one or more nucleotides or base pairs within a gene
what is point mutation
when only one nucleotide is affected by mutation
what happens in a substitution mutation
- changes the codon in which the nucleotide has been substituted in
- if new codon codes for a different amino acid, this will change the primary structure of the protein
- but genetic code is degenerate, so might still code for the same amino acid
- so no change to protein synthesised
when will a substitution mutation be important, and what is this based on
- depends on the position and involvement of the amino acid in R-group interactions within the protein
- if for an enzyme, amino acid might play important role in the active site, so may not function any longer
what do insertion and deletion mutations result in
a frameshift mutation
explain a frameshift mutation
- as genetic code is read/transcribed in non-overlapping triplets
- when you add or remove a nucleotide
- this will move the reading frame of sequence bases
- so every successive codon will be changed from the point of mutation
- still takes place if multiple are added, unless a multiple of 3 is changed
- will not change the reading frame, but the protein formed will still be changed (lost or gained new amino acid)
what is the effects of mutations
no effect
damaging
beneficial
what happens if there is a no effect mutation
- no effect on phenotype
- as normally functioning amino acids are still synthesised
what happens if there is a damaging mutation
- when proteins are no longer synthesised or are non-functional
- can interfere with essential processes
what happens if there is a beneficial mutation
- protein synthesised with have a new and useful characteristic in phenotype
when do mutations occur
spontaneously, often during DNA replication
what are the rate of mutations increased by
mutagens
what are mutagens
chemical, physical or biological agent which causes a mutation
what are some examples of mutagens
- ionizing radiation such as x-rays
- deaminating agents
- alkylating agents
- base analogs
- viruses
what are chromosome mutations
- affect the whole chromosome or number of chromosomes within a cell
- can be silent or affecting
what are the types of chromosome mutations
- deletion, where a section of chromosome breaks off and is lost within a cell
- duplication, where sections of the chromosome get repeated
- translocation, where a section of one chromosome breaks off and joins another non-homologous chromosome
- inversion, where a section of chromosome breaks off, is reversed, and joins back
why is gene regulation important
- the entire genome of an organisms is present in every prokaryotic/eukaryotic cell with nucleus
- need to regulate which genes are actually needed, so can turn on or off genes and control the rate of product synthesis on demand
what is the basic difference between gene regulation in prokaryotes and eukaryotes
- prokaryotes only have to respond to changes in the external environment
- multicellular organisms also have to respond to internal conditions, and is important for cells to specialise
what are the different stages of cell regulation
transcriptional (genes turned on and off)
post-transcriptional (mRNA can be modified which regulates translation)
translational (can stop or start translation)
post-translational ( proteins being modified after translation to change their functions)