Lecture 11 Flashcards
23S rRNA
- catalytic RNA
- caalyzes peptide bond formation between amino acid on tRNA at A site and growing peptide chain bond to rRNA in P site
peptidyl transferase
cataltic activity of 23S rRNA
structure domains of ribosomal RNA
-50S (23S and 5S) of 70S prokaryotes
functional domains of proteins
- sequences with 50-300 amino acids
- fold into stable, unique conformation
- LDL receptor protein domains
- exon shuffling
chromosome mutations
- change in total number of chromosomes
- depletion or duplication of genes/segments of chromosomes
- rearrangements of genetic material within or among chromosomes
deletions and duplications in the alterations of chromosomes
-total amount of genetic info in chromosome changes
inversions and translocations in alternations of chromosomes
-genetic material remains the same but rearranged
what is a mutation?
- an alteration in DNA sequence in DNA sequence
- any base-pair change in sequence
- singe base-pair substitution
- deletion or insertion of base pairs
- major alteration in chromosomal structure
where may chromosomal mutations occur?
- somatic or germ cells
- coding or noncoding regions
point mutation (base substitution)
-change from one base pair to another
missense mutation
results in new triplet code for different amino acid
nonsense mutation
results in triplet code for for stop codon (translation terminated prematurely)
silent mutation
A mutation that changes a single nucleotide, but does not change the amino acid created.
frameshift mutation
- results from insertations or deletions of base pair
- loss or addition of nucleotide causes shift in reading frame
- frame of triplet reading during translation is altered
loss of function mutation
reduces/eliminates function of gene product
null mutation
results in complete loss of function
dominant mutation
results in mutant phenotype in diploid organism
dominant gain of function mutation
results in gene with enhanced, negative or new function
lethal mutations
interrupt essential process and result in death (highly conserved genes; natural selection does not tolerate alterations)
lethal conditional mutations
dependent on organism’s enviroment
neutral mutation
majority of mutations occur in a noncoding region, effect on genetic fitness of organism is neither beneficial nor detrimental
spontaneous mutation
- changes in nucleotide sequence that occur naturally
- arise from normal biological or chemical processes that alter nitrogen bases
induced mutation
result from influence of extraneous factors, either natural or artificial
what do mutations arise from?
- replication
- replication is imperfect
- DNA polymerase occasionally persists after proofreading
- errors due to mispairing predominantly lead to point mutations
replication slippage
- if loop occurs in template strand during replication, DNA polymerase musses lopped out nucleotides, and small insertion and deletion occur
- more common in repeat sequences
- hot spots for DNA mutations
- contribute to hereditary diseases
DNA repair system
maintains the integrity of genetic material; repairs systems, counteracts genetic damage that can result in genetic disease and cancer
DNA polymerase
proofreads, removes, and replaces incorrectly inserted nucleotides
mismatch repair
- activated when proofreading fails
- mismatches are detected, cut, and removed (by endonuclease and exonuclease) and the correct nucleotide is inserted by DNA polymerase