F08pages56-60 - 5'-exon 5'-exon 5'-exon O CH2 B O CH2 3' B...

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B O OH CH2 O P O O- O B OH CH2 O 5’- exon Exon 1 Intron 1 Intron B O OH CH2 O P O O- O 2’ Intron B O OH CH2 O P OO- O 2’ B O OH CH2 O P O O- Intron 1 Exon 2 3’- exon B O OH CH2 O P O B OH CH2 O Exon 1 Intron 1 Intron B O O CH2 O P O 2’ Intron B O OH CH2 O P O O- O 2’ B O OH CH2 O P Intron 1 Exon 2 O- 5’- exon 3’- exon B O OH CH2 O P O Intron B O O CH2 O P O- O 2’ Intron B CH2 O P O O- O 2’ O- OHOH O B OH CH2 O 5’- exon B O OH CH2 O P O O- Exon 2 3’- exon Exon 1 3’ + Splicing Mutations Changes in the DNA sequence 56
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57
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oxidation Guanine (G) 8oxoG (G*) pairs with adenine, creates a GC TA mutation N O H N H H NH 2 N N 8-oxoguanine ( G* ) H N O N H N NH 2 N O How do mutations occur? G CG C A T oxidation G* C A T DNA replication G* A G C A T G C A T G* A G C A T T A G C A T DNA replication Mutations affect phenotype Because genetic code is redundant, some mutations have no affect on amino acid sequence. 58
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Missense mutation causes insertion of a different amino acid. Nonsense mutation causes premature translation termination codon. Insertion or deletion of 1,2,4,5,7. .. base pairs changes the reading frame.
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F08pages56-60 - 5'-exon 5'-exon 5'-exon O CH2 B O CH2 3' B...

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