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Mutation
permanent change in the base sequence of DNA (harmful or beneficial)
Natural selection
survival of new genotypes
Point mutation (aka base substitution mutation)
single DNA base pair is altered
Missense mutation
mutation that results in the substitution of an amino acid in a protein (type of point mutation)
Explain process of a point mutation (3)
- An incorrect nucleotide is paired into an incorrect base pair (A-G, T-C, G-T, etc)
- Following replication, an incorrect base pair will be in place of the intended base pair (instead of G-C, it may become A-T)
- during translation, a codon will code for a different amino acid resulting in a new or inactive protein
Frameshift mutation
DNA base pairs are added/removed from the sequence; causes a shift in the sequence reading
Explain process of a frameshift mutation (3)
- DNA base pair(s) are added/removed
- 3 pair groupings are altered and result in different amino acids due to the nucleotide sequence shifting
- an inactive protein will be produced
How does a frameshift mutation works
offsets 2 strands of DNA, leaving a gap in one strand to be altered
Nonsense mutation
a base substitution resulting in a nonsense codon
Spontaneous mutation (2)
- occur in the absence of any mutation-causing agents
- mutations occur because of occasional mistake during DNA replication
Mutagens
agents in the environment that directly/indirectly bring about mutation
Nitrous acid
mutagen that changes DNA's base pairs (A can pair with C, G can pair with T, etc)
How does nitrous acid affect nucleotides
- reshapes a nucleotide to pair with an incorrect pairing
How does nitrous acid alter DNA following replications (2)
- the altered-reshaped nucleotide will pair with the incorrect base pair because of its reshaping
- can turn into a mutated DNA if the altered nucleotide becomes a different nucleotide to match the incorrect base pairing (exp: adenine shaped to pair cytosine; mutated DNA pairs the cytosine with guanine)
Nucleoside analog
chemical structurally similar to normal nucleotide but with altered base-pairing properties
What is the nucleoside analog of adenine & what is different about it
- 2-aminopurine nucleoside
- adenine pairs with cytosine (mutated DNA can change AT pair to CG pair)
What is the nucleoside analog of thymine & what is different about it
- 5-bromouracil nucleoside
- thymine pairs with cytosine (mutated DNA can change AT pair to GC pair)
Mutation rate
probability that a gene will mutate when a cell divides (very rare)
Radiation
mutagens with the ability to ionize atoms & molecules
Effect of ultraviolet (UV) light
forms harmful covalent bonds (dimers) between pyrimidine bases (Thymine, Cytosine, Uracil)
Dimers
result from adjacent (thymine, cytosine, or uracil) in a DNA strand cross-linked to form distortions
UV light formation process (3)
- exposed to UV light
- adjacent (T, C, or U) become cross-linked
- dimer forms & disrupts normal base pairing
UV light dimer repair process (nucleotide excision repair) (3)
- endonuclease cuts DNA & exonuclease removes damaged DNA
- DNA polymerase fills gap by synthesizing new DNA
- DNA ligase seals gap by joining old & new DNA
endonuclease
enzyme that cuts DNA
exonuclease
removes damaged DNA
Photolysases
light repair enzymes; separate dimer back to original 2 nucleotides
Feedback inhibition
stops a cell from performing unneeded chemical reactions (stop enzymes that have been synthesized already)
60%-80% of genes are not regulated but ____ (their products are constantly produced at a fixed rate)
constitutive
Cyclic AMP (cAMP)
substance derived from ATP, serving as a cellular alarm signal in response to environment/nutritional stress (alarmone)
Catabolite repression
presence of preferred carbon source like glucose inhibits the expression of genes of other carbon sources
Is glucose or lactose the faster carbon source
glucose
when enzymes run out of glucose, what happens
cAMP accumulates
where does cAMP bind to
allosteric site of catabolic activator protein (CAP)
where does the CAP bind to
lac promoter (initiating transcription)
transcription of lac operon require what (2)
presence of lactose & absence of glucose (glucose = no cAMP)
process of positive regulation of lac operon
- glucose used up as carbon source until no more
- short lag time (cAMP levels increase, lac operon transcribes to synthesize enzyme to break down lactose)
- lactose is used as carbon source
Lac operon function
produce large amounts of mRNA for synthesis of lactose-digesting enzymes
if lactose & glucose are present, what happens to cAMP levels & lac operon
cAMP levels are low; lac operon is inactive
if lactose is present, but glucose is not, what happens to cAMP levels & lac operon
cAMP levels are high; lac operon is active
Epigenetic control
eukaryotes & prokaryotes can turn genes off by methylating certain nucleotides (not permanent, can be passed on {epigenetic inheritance})
Riboswitch
part of mRNA molecule that binds to a substrate and changes the mRNA structure
purpose of a riboswitch
stop protein synthesis (translation) after transcription occurs
if a riboswitch makes a change, what happens
translation can either be initiated or stopped
microRNAs (miRNAs)
single-stranded RNA molecules that inhibit protein production in eukaryotes
how do miRNAs inhibit protein sysnthesis
by binding to mRNA to delay or destroy it from being translated