the Genetic Code Shown as mRNA 5′ → 3′ 64 codons Redundant

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Presentation transcript:

the Genetic Code Shown as mRNA 5′ → 3′ 64 codons Redundant One “start” codon: AUG Three “stop” codons: UAG, UAA, UGA (don’t encode amino acids)

the Genetic Code For each gene, one DNA strand is transcribed Template strand “read” mRNA complementary to template CTACGAGGAGGTGAAGCGATGCCCCGTAGCCGATAGTAGC DNA 5’ 3’ GATGCTCCTCCACTTCGCTACGGGGCATCGGCTATCATCG 3’ 5’ template strand CUACGAGGAGGUGAAGCGAUGCCCCGUAGCCGAUAGUAGC 3’ 5’ mRNA

the Genetic Code Non-template strand looks like RNA (except T’s) also called the sense strand non-template strand CTACGAGGAGGTGAAGCGATGCCCCGTAGCCGATAGTAGC DNA 5’ 3’ GATGCTCCTCCACTTCGCTACGGGGCATCGGCTATCATCG 3’ 5’ CUACGAGGAGGUGAAGCGAUGCCCCGUAGCCGAUAGUAGC 3’ 5’ mRNA

the Genetic Code Ribosome starts at 5’ end of mRNA (in eukaryotes) Protein synthesis begins at start codon, ends at stop codon codons CUACGAGGAGGUGAAGCGAUGCCCCGUAGCCGAUAGUAGC mRNA 5’ 3’ start codon: AUG stop codon: UAG, UGA or UAA MetProArgSerArg protein this stop codon is not “in-frame” so it’s ignored!

Mutation Change in nucleotide sequence of DNA Caused by: DNA polymerase mistake Chemical change within cell UV light or other radiation Mutagenic chemical

ACGATCCTATGCCCCGCAGCCGATAGTCTCATT TGCTAGGATACGGGGCGTCGGCTATCAGAGTAA Effects of mutations DNA ACGATCCTATGCCCCGCAGCCGATAGTCTCATT TGCTAGGATACGGGGCGTCGGCTATCAGAGTAA 5’ 3’ 3’ 5’ RNA ACGAUCCUAUGCCCCGCAGCCGAUAGUCUCAUU 5’ 3’

ACGATCCTATGCCCCGCAGCCGATAGTCTCATT TGCTAGGATACGGGGCGTCGGCTATCAGAGTAA Effects of mutations DNA ACGATCCTATGCCCCGCAGCCGATAGTCTCATT TGCTAGGATACGGGGCGTCGGCTATCAGAGTAA 5’ 3’ 3’ 5’ RNA ACGAUCCUAUGCCCCGCAGCCGAUAGUCUCAUU 5’ 3’ MetProArgSerArg

ACGATCCTATGCCCCGCCGCCGATAGTCTCATT TGCTAGGATACGGGGCGGCGGCTATCAGAGTAA Effects of mutations Missense: single amino-acid change DNA ACGATCCTATGCCCCGCCGCCGATAGTCTCATT TGCTAGGATACGGGGCGGCGGCTATCAGAGTAA 5’ 3’ 3’ 5’ RNA ACGAUCCUAUGCCCCGCCGCCGAUAGUCUCAUU 5’ 3’ MetProArg???Arg Could this change have an effect on protein function? Could it affect the whole organism?

ACGATCCTATGCCCCGCCGCCGATAGTCTCATT TGCTAGGATACGGGGCGGCGGCTATCAGAGTAA Effects of mutations Missense: single amino-acid change DNA ACGATCCTATGCCCCGCCGCCGATAGTCTCATT TGCTAGGATACGGGGCGGCGGCTATCAGAGTAA 5’ 3’ 3’ 5’ RNA ACGAUCCUAUGCCCCGCCGCCGAUAGUCUCAUU 5’ 3’ MetProArgArgArg Could this change have an effect on protein function? Could it affect the whole organism?

Effects of mutations Missense: single amino-acid change Wild-type RPE65: ATGTCTATCCAGGTTGAGCATCCTGCTGGTGGTTACAAGAAACTGTTTGAAACTGTGGAGGAACTGTCCT CGCCGCTCACAGCTCATGTAACAGGCAGGATCCCCCTCTGGCTCACCGGCAGTCTCCTTCGATGTGGGCC AGGACTCTTTGAAGTTGGATCTGAGCCATTTTACCACCTGTTTGATGGGCAAGCCCTCCTGCACAAGTT… MetSerIleGlnValGluHisProAlaGlyGlyTyrLysLysLeuPheGluThrValGluGluLeuSerSerPro LeuThrAlaHisValThrGlyArgIleProLeuTrpLeuThrGlySerLeuLeuArgCysGlyProGlyLeuPhe GluValGlySerGluProPheTyrHisLeuPheAspGlyGlnAlaLeuLeuHisLysPheAspPheLysGlu… Mutant RPE65: ATGTCTATCCAGGTTGAGCATCCTGCTGGTGGTTACAAGAAACTGTTTGAAACTGTGGAGGAACTGTCCT CGCCGCTCACAGCTCATGTAACAGGCAGGATCCCCCTCTGGCTCACCAGCAGTCTCCTTCGATGTGGGCC AGGACTCTTTGAAGTTGGATCTGAGCCATTTTACCACCTGTTTGATGGGCAAGCCCTCCTGCACAAGTT… MetSerIleGlnValGluHisProAlaGlyGlyTyrLysLysLeuPheGluThrValGluGluLeuSerSerPro LeuThrAlaHisValThrGlyArgIleProLeuTrpLeuThrSerSerLeuLeuArgCysGlyProGlyLeuPhe GluValGlySerGluProPheTyrHisLeuPheAspGlyGlnAlaLeuLeuHisLysPheAspPheLysGlu…

Effects of mutations Missense: single amino-acid change Hemoglobin → sickle-cell anemia: ATGGTGCATCTGACTCCTGAGGAG… MetValHisLeuThrProGluGlu GTG Val

Effects of mutations AUGCCCCGCAGCCGAUAG MetProArgSerArg Nonsense: creates stop codon AUGCCCCGCAGCCGAUAG MetProArgSerArg AUGCCCCGCAGCUGAUAG MetProArgSerXXX

Effects of mutations AUGCCCCGCAGCCGAUAG MetProArgSerArg Deletion: creates frameshift, changes all following aa’s AUGCCCCGCAGCCGAUAG MetProArgSerArg AUGCCCGCAGCUGAUAG MetProAlaAlaAsp…

Effects of mutations AUGCCCCGCAGCCGAUAG MetProArgSerArg Insertion: creates frameshift, changes all following aa’s AUGCCCCGCAGCCGAUAG MetProArgSerArg AUGGCCCCGCAGCUGAUAG MetAlaProGlnProIle…

Effects of mutations AUGCCCCGCAGCCGAUAG MetProArgSerArg Silent: DNA changes, but protein doesn’t AUGCCCCGCAGCCGAUAG MetProArgSerArg AUGCCCCGCAGUCGAUAG MetProArgSerArg