Unit 3: Chapter 16 Flashcards
Mutations
Heritable changes in DNA sequence
Point mutations
single nucleotide changes
Ex. Insertions or deletions
Spontaneous mutations
arise in absence of any stimulus
Where can spontaneous mutations result from?
- errors in DNA replication
- head on collisions between replisome and polymerase
- spontaneously occuring lesions in DNA
- action of mobile genetic elements
What are examples of spontaneous mutations?
Insertion, deletion, transititon, transversion
Tautomerization
Nitrogenouse base of nucleotide shifts to tautomeric form which allows for unique base pairing to occur (2 or more interconvertible structures)
Transition mutation
Stable change of nucleotide sequence from purine to purine or pyrimidine to pyrmidine
The shape of purine with purine is
Too wide
Transversion mutation
Changes of nucleotide sequence from purine to pyrmidine which causes steric problems
The shape of pyrimidine with pyrimidine is
Too narrow
Insertions
Occurs at short stretches of repeated nucleotides (AT) and slippage in synthesizing new daughter strand
What is the shape for purione with pyrimidine?
Normal base pairing
Deletions
Occurs at short stretches of repeated nucleotides (AT) and slippage in parental old strand
Spontaneous occuring lesions in DNA
- Purines lose their base (depurinated) while the phosphate sugar backbone remains intact
- Forms apurinic site which cannot base pair and may cause mutation after next round of replication
Induced mutations
Results of exposure to mutagen which can be physical/ chemical agents that damage DNA
Base analogs
- Example of chemical induced mutagen
- Structurally similiar to normal bases and mistakes occurs when they are incorporated into growing polynucleotide chain
This is an example of what: 5- Bromouracil is base analogue of thymine that undergoes tautomeric shift more frequently than normal base
Base Analogs
DNA modifying agents
Alter a base causing it to mispair
This is an example of what: methyl-nitrosoguanidine adds methyl groups to guanine causing it to mispair with thymine
DNA modifying agents
Intercalating agents
- distort DNA to induce single nucleotide pair insertions and deletions
- mutagens are planar and insert themselves between stacked bases of helix
This is an example of what: ethidium bromide intercalcates in DNA and use as stain
Intercalcating agents
Ultraviolet radiation
thymine dimers between 2 thymine bases on the same strand
Wildtype
The most prevalent form of gene and its associated phenotype
Forward mutation
Wild type to mutant form
Reverse mutation
Mutant phenotype to wild type phenotype
Supressor mutation
Wild type phenotype is restored at a different site than original mutation
Where are mutations?
in regulatory or coding sequences in tRNA and rRNA genes
Silent mutation
change nucleotide sequence of codon but not amino acid
(minimal effect)
Missense mutation
Single base substitution that changes codon for one amino acid into codon for another amino acid
Nonsense mutation
Converts sense codon to nonsense (STOP: TAG, TGA, TAA) codon
(early stop)
Frameshift mutation
Results from insertion or deletion of base piars in coding region of gene
(can be most detrimental)
Proofreading
- 1st defense of DNA repair
- Fix mistakes in base pairing by DNA polymerase
Mismatch repair
- Mismatch correction enzyme scans newly synthesized DNA for mismatched pairs
- Mismatched pairs are removed and replaced by DNA polymerase
DNA methylation
- Parental DNA is methylated and new DNA temporarily lacks methyl groups
- Repair system cuts out the mismatch from unmethylated strand