DNA mutation, DNA repair and transposable elements - DNA mutation - Spontaneous and induced mutations

6 important questions on DNA mutation, DNA repair and transposable elements - DNA mutation - Spontaneous and induced mutations

What is a "tautomer" ? (2)

  • Alternate chemical forms in which DNA or RNA bases can exist
  • Keto (normal) --> Enol (rare) 

Characteristics of spontaneous chemical changes? (2)

  • Depurination and deamination
  • Repair with "base excision repair systems"

What is the result of "depurination" ? (3)

  • Apurinic site: loss of purine through hydolysation base with deoxyribose
  • covalent bond is less stable between base and purine than between base and pyrimidine
  • Not repaired? --> no base to specify a complementary base, polymerase may stall or dissociate from the DNA
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What is the result of "deamination" ? (3)

  • removal of an amino group from a base
  • cytosine --> uracil (only in RNA)
  • Not replaced? --> CG - TA transition mutation

What does deamination of "5mC" result to? (5)

  • cytosine modified to base 5-methylcytosine
  • production of thymine
  • G-5mC --> G-T (mismatch)
  • G-C --> A-T (transition mutation)
  • Less likely to be corrected! --> mutational hot spots

Characteristics of "induced mutations" ? (2)

  • Exposure to physical (radiation) or chemical mutagens
  • Used for studies, natural frequency is too low

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