DNA Recombination, Mutagenesis, Repair Flashcards
Another term for RNA-dependent DNA polymerase
Reverse Transcriptase
Mixing and matching of genes, producing genetic variability
Genetic Recombination
Unites two DNA molecules that have crossed over
Heteroduplex joint
Cross-strand exchange involving 4 DNA strands shared by 2 helices, where two of the strands are switched
Holliday Junction
Localized changes that can lead to loss or gain of functional phenotypes
Mutations
TRUE/FALSE: loss of function mutations indicate dominant inheritance.
FALSE. Loss of function indicate recessive alleles whereas gain of function mutations indicate the presence of a dominant allele.
Translocation wherein two acentric nonhomologous chromosomes cross over
Reciprocal
Translocation where fragment includes centromere
Pericentric
Unequal genes are present due to mismatch correction; prevented by mismatch proofreading
Gene conversion
A gene or a region of a chromosome is replicated many times over, sometimes yielding pseudochromosomes
Gene amplification
Genetic change involving the loss or gain of entire chromosomes
Aneuploidy; eg. Down Syndrome – trisomy 21 that may be caused by a deletion in another chromosome
Processed genes altered so they contain nonsense codons, unable to produce functional proteins
Pseudogenes
Leads to microsatellite changes and trinucleotide repeat expansion diseases
Replication slippage
Pyrimidine-pyrimidine substitutions
Transition
Purine-pyrimidine substitutions
Transversion
Correction of wrong nucleotide by reversal of DNA damage
Direct repair
Base is removed by glycosidase and replaced
Base excision repair
Stretch of DNA around the site of damage is removed and replaced
Nucleotide excision repair
Binds to p53 which is activated upon irreparable DNA damage
MDM2
DNA polymerase proofreading machinery
5’-3’ exonuclease activity