Consequences of Mutation Flashcards
(23 cards)
What are the mutations that influence protein sequence?
- Silent mutation
- Missense Mutations
- Nonsense Mutations
- Frameshift mutation
What is a spontaneous mutation?
The mutation is not caused by an environmental source.
What is an induced mutation?
The mutation is caused by environmental sources.
Causes of spontaneous mutations.
- Tautomeric shifts
- Depuranitaion and deamination
- Oxidative Damage
- Transposons
- DNA replication errors.
What is an example of a transition mutation?
Purine to purine. Adenine to Guanine.
Causes of induced mutations.
- Base analogs
- Alkylation, Intercalating, and Adduct forming Agents
- Ultraviolet light
- Ionizing radiation (X rays, gamma rays, cosmic radiation)
The consequences of mutations in the Promoter (UAS) (TATA Box) area.
- Reduces or abolish transcription of mRNA resulting in no protein or reduced amount.
- Mutations in the TATA may alter the 1+ site, this may decrease the stability of mRNA.
A mutation in which region of the gene would most likely change the overall levels of mRNA?
Region A (Promoter
mRNA levels are related to the promoter.
Which region is recognized by 18srRNA?
Region D in Compex Visual(Upstream Start Codon)
A mutation in which region of the gene would most likely be tolerated?
Simple Structure A (Promoter), B (Untranslated Region), C (Exon), D (Intron).
Region D (Intron)
A mutation in which region of the gene would most likely change the protein sequence.
Region C (Exon)
A mutation in which region of the gene would most likely change the overall levels of protein?
Region B (Untranslated Region)
Original: …AGC AUC UGU…
...AGC AUA UGU...
Silent (Synonymous) Mutation
Results in a truncated (shortened) protein.
Nonsense Mutation
and
Frameshift mutation
THE CAT SAW THE DOG
THE ATS AWT HED OG
Frameshift Mutation
-Loss of C
THE CAT SAW THE DOG
THE CMA TSA WTH EDO G
Frameshift Mutation
-Insertion of M
Original: …AGC AUC UGU…
…AGC AUC UGA…
Nonsense mutation
-Results in a truncated protein
Originial: …AGC AUC UGU…
….AGC AUG UGU…
Missense (nonsynonymous) mutation
What are some examples of expanding mutation?
Fragile X syndrome
Huntington’s Disease
What is Hunitongs disease?
Excessive CAG repeats, which is an expanding mutation.
A mutation in which region of the pre mRNA would result in an mRNA of decreased stability?
In generic eukaryotic gene
Region H
Between which two regions will a mutation most likely be tolerated?
In generic eukaryotic gene
F and G
Regions I and J in the mRNA are important for forming a closed-loop mRNA structure. What three proteins are required for this closed-loop mRNA structure?
- PAPB (Attaches to the poly-A tail)
- EIF-4G (Closes the loop)
- EIF-4E (Attached to the 7mG Cap)