Cycle 4 (Workshop + Study Session) Flashcards
Define and state the types of DNA damage
Exogenous: Coming from outside the cell (e.x. UV, IR, chemicals)
Endogenous: Coming from inside the cell (e.x. Cell Metabolism (ROS), replication errors)
What is the difference between mutations and DNA Damage?
Mutations are changes in the double stranded DNA sequence, while DNA damage is any change to DNA that is not double stranded
True or False:
Genetic variation refers to DNA damage
False, genetic variation refers to mutations
Can DNA damage lead to mutations?
Yes
What are ROS?
Reactive Oxygen Species
Very electronegative and unstable, will take electrons away from any sort of molecule nearby to regain stability (Targets DNA)
What can taking electrons away from DNA lead to?
Double-stranded breaks
What is the Oxygen Paradox?
While oxygen is crucial to many cell functions, too much of it can ultimately lead to cell death
Too much oxygen causes _________ ______
Oxidative Stress
What helps our cells combat the effects of ROS?
Antioxidants
True or False:
DNA Polymerase can proofread during replication
True
How does DNA polymerase recognize that a mistake has been made?
Detection of distortion in the DNA backbone
How does DNA polymerase remove incorrect bases?
Moves backwards and removes the incorrect base through 3’-5’ exonuclease
True or False:
3’-5’ exonuclease can remove several bases at a time from the end of the chain
False, 3’-5’ exonuclease can remove bases one at a time from the end of the chain
Describe the _ steps in mismatch excision repair
4
Repair enzymes detect the distortion
Mismatch/repair enzymes bind to the damaged region and excise (cleave) the backbone through endonuclease activity
DNA polymerase fills in the gap
Ligase seals the nick
Define:
Mismatch repair
When the mistake is brought upon by mistakes by DNA polymerase III that are not fixed by proofreading
Define:
Excision repair
Used when there are exogenous sources of DNA damage
True or False:
Repair enzymes that have endonuclease activity can make cuts at the ends of the backbone
False, repair enzymes that have endonuclease activity can make cuts that are within the backbone
Define:
Thymine Dimers
A type of damage that occurs when adjacent thymines are exposed to UV light
How are thymine dimers repaired?
Photolyase + white light
Excision repair
Describe a thymine dimer
Formed under UV light, when two T bases to covalently bond together (forming a dimer)
Define:
Non-Homologous End Joining (NHEJ)
Repairs double-stranded breaks by joining blunt ends without using a template
True or False:
NHEJ is relatively precise
False, NHEJ is very sloppy as it grabs floating nucleotides and puts them back in random orders and numbers
What mutations can NHEJ result in?
Insertion, deletion, or inversion
True or False:
Only 90% of your DNA is essential coding
False, only 10% of your DNA is essential coding
What does 2% in the 10% of essential coding account for?
Protein coding
What types of mutations are there?
Substitution, deletion, insertion, and inversion
Define:
Substitution mutation
Also known as point mutation, when one base changes
Define:
Deletion mutation
When a base pair is removed
Define:
Insertion mutation
Base pair is added
Define:
Inversion mutation
When a sequence is flipped
What are the _ types of point mutations?
3
Silent
Nonsense
Missense
Define:
Silent point mutation
The base change will result in a change in the mRNA, but still codes for the same amino acid
Define:
Nonsense point mutation
The base change will result in a change in the mRNA and code for a premature stop codon, potentially leading to a nonfunctioning protein
Define:
Missense point mutation
Base change will result in a change in the mRNA and will change the amino acid it codes for; may cause an issue
Define:
Single Nucleotide Polymorphisms (SNPs)
Single nucleotide changes “in pairs”
True or False:
SNPs are the most common type of genetic variation between individuals
True
True or False:
SNPs will cause individuals to develop certain diseases
Not exactly. Majority of SNPs have no effect on health and development
Backward slippage occurs in the ___________ strand
Synthesized strand
Backwards slippage will cause _________, causing the copied DNA to be ______
Insertion
Longer
Where is backward slippage more common?
More common in regions where the DNA sequence is repetitive
In backwards slippage, a strand slips during replication and creates a ____
Loop
Why is the loop created in backwards slippage not repaired?
It is very stable and not recognized by DNA polymerase III or other repair enzymes
What kind of slippage occurs in the template strand?
Forward slippage
Forwards slippage will cause _________, causing the copied DNA to be ______
Deletion
Shorter
When does forward slippage happen?
Can happen when the DNA polymerase is going too fast
True or False:
Tautomeric shifts are NOT spontaneous events
False, tautomeric shifts are SPONTANEOUS events
True or False:
Tautomeric shifts DO NOT result in a mismatch
True
If a tautomeric shift is not recognized by the cell as a mismatch, what is it?
A shift in preferential base pairing
Thymine and Guanine are mainly in ____ form, but can shift to ____ form
KETO
ENOL
Adenine and Cytosine are mainly in _____ form, but can shift to _____ form
AMINO
IMINO
What does ENOL T pair with?
Guanine
What does IMINE A pair with?
Cytosine
Define:
Mutagens
Things that increases the rate of mutations in cells
True or False:
DNA polymerase has perfect specificity
False, DNA polymerase does not have perfect specificity
What is an example of analogous molecule to thymine?
5-bromouracil
What can analogous molecules do to DNA replication?
Analogs are much more unstable in most cases and thus more likely to undergo tautomerization and cause mutation through tautomeric shifts
Define:
Analogous
Similar in structure
Define:
Transition Mutation
Purine to purine OR Pyrimidine to pyrimidine
Define:
Transversion Mutation
Purine to pyrimidine OR Pyrimidine to purine
Give an example of a transition mutation:
AT to GC
Give an example of a transversion mutation
AT to CG
What are transposable elements?
Short regions of DNA that are able to move (“jump”) around the genome
Where can we generally find transposable elements?
TEs are generally found in between genes - in the “safe havens”
True or False:
Transposable Elements generally appear in between genes, which affects gene function
False, TEs generally appear in between genes in the “safe havens” so they don’t interfere with the function of genes
Genome size does not necessarily reflect the ______ of _____ an organism has
Number
Genes
How many TEs can a genome have?
Many, depending on the organism.
___ are the reason that genomes can be so _____
TEs
Large
True or False:
Most transposable elements are dead
True, most are silenced/deactivated by the host and longer undergo transposition (jumping around)
Can transposable elements still be active?
Yes, few can be active and fewer still can transpose
If a TE lands on a gene, what can it cause?
Can cause disease-causing mutations OR gene shuffling
Define and give an example of a:
Multifactorial Disease
A disease that can be caused by a variety of factors, both environmental (exercise, diet, lifestyle) and genetics (SNPs)
E.x. Heart disease
True or False:
TEs can take a piece of genome and add it to another section
True, it can do this under a different promoter