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Chapter 14: Mutations - Coggle Diagram

- - - - mutations outside of coding region --> no effect to gene
  - - - hydrogen moves pairing (shifts) --> now thymine-guanine
        
        Mismatch mutations are caused by error in replication
        
        Original molecule (correct base pairing)
        
        First round of DNA replication: replication error in 1 DNA molecule (wrong base pairing)
        
        2nd round of DNA replication: one DNA molecule may have correct base pairing while the other DNA molecule is mutated
    - - then the correct nucleotide is added to replace incorrect one
  - - - protein recruits enzymes to cleave DNA strand
        
        exonuclease removes region around the aberrant bases
        
        DNA polymerase fills in the missing nucleotides and a DNA ligase joins the backbones
  - - - ex. Blood types are based on membrane proteins (O blood type has no membrane proteins)
    - - visualizing DNA changes with PCR (ex. if mutation deleted part of normal DNA --> amplify with PCR and you'd get a smaller mutant DNA than the normal one)
- - - - How much genetic variation is there between humans? at 4.1-5 million sites, 2100-2500 structural variants
        
        Mutation: implies that you KNOW THE ORIGINAL STATE of gene/trait
        
        Polymorphism: "variant": variation for the nucleotide/trait within a population/species
- - - - eye color is determined by amount of melanin in your iris (blue eyes: regulatory mutation in the melanosomes in iris, blocks melanin transfer to the iris)
- - - - ex. attach ethyl or methyl groups to nucleotides --> mispairings
      - ex. retrotransposons are inserted randomly
        
        if inserted in the middle of gene that's being transcribed --> effect
        
        gene disruption --> no gene product
        
        gene activation (by bringing promoters) --> too much gene product