Biochemistry Video 6
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- What are the three stop codons?
- UAA, UAG, UGA
- What is the start codon?
- AUG, which codes for methionine
- Instead to methionine, what is normally found at the N terminus of prokaryotic proteins?
- formylmethionine
- What is a transition mutation?
- when a purine is exchanged for another purine or a pyrimadine is exchanged for another pyrimidine
- What is a transversion mutation?
- when a purine is exchanged for a pyrimidine or vice versa
- What happens in a silent mutation and what is it's effect on the protein?
- new codon specifies same amino acid and has no effect on the protein
- What happens in a missence mutation and what is it's effect on the protein?
- New codon specifies different amino acid and can cause a decrease in function of the protein.
- What happens in a nonsense mutation and what is it's effect on the protein?
- New codon is a stop codon and the protein will be shorter than normal; usually nonfunctional
- What happens in a frameshift mutation and what is it's effect on the protein?
- deletion or addition of a base...usually results in a nonfunctional protein which is ofter shorter than normal
- What happens in a large segment deletion mutation and what is it's effect on the protein?
- Unequal crossover in meiosis results in a loss of function and shorter than normal or entirely missing protein
- What happens in a Splice donor or acceptor mutation and what is it's effect on the protein?
- Variable effects ranging from addition or deletion of a few amino acids to deletion of an entire exon.
- What happens in a Triplet repeat expansion mutation and what is it's effect on the protein?
-
Expansions in coding regions cause protein product to be longer than normal and unstable.
Disease often shows anticipation in pedigree - What well known disease is cause by a single point missense mutation?
- sickle cell
- When do large segment deletions usually take place?
- meiosis
- What is a well known disease caused by large segment deletions?
- alpha thalessemias
- What are splice donor and acceptor sites?
- sites at the borders of introns and exons
- What well known disease is a result of a mutation in a spliceing donor or acceptor site?
- Beta thalessemia
- What is a common disease that is due to a tripet repeat expansion?
-
Huntington's Disease
Fragile X Disease - What is the bad gene on the long arm in Fragile X Disease?
-
FMR1 gene
(familial mental retardation" - How is an amino acid activated?
- two ATP high energy bonds energize the C terminus of the amino acid, leaving an AMP attached to the COOH
- What enzyme facilitates the attachment of the amino acid to tRNA?
- aminoacyl-tRNA synthetase
- How many ATPs are used to activate the amino acid?
- 2 ATPs