Wild-type Mutant 1 Mutant 2 Mutant 3 Stop silent DNA 3 CTT 5 5 3 5 Val missense 3CTC 5 5 GAG 3 mRNA GAA 3 5 GAA 3' CAT5 GTA 3 5 GUA 3 5 GAG 3 3 ATT 5 5 TAA 3 5' UAA 3¹ frameshift--extensive missense Amino acid a Glu d 9 Glu substitution nonsense b h Type of mutation N/A insertion or deletion frameshift--immediate nonsense C Effect on polypeptide normal

Biochemistry
6th Edition
ISBN:9781305577206
Author:Reginald H. Garrett, Charles M. Grisham
Publisher:Reginald H. Garrett, Charles M. Grisham
Chapter30: Protein Synthesis
Section: Chapter Questions
Problem 4P: Codon-Anticodon Recognition: Base-Pairing Possibilities (Integrates with Chapter 11.) Draw base-pair...
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7L.6.2

Part B - Point mutations
The instructions for assembling polypeptides are contained in DNA. Consequently, mutations in DNA sometimes affect protein structure. A mutation will initially affect a protein's primary structure, but changes
at higher levels of structure may follow.
Point mutations are mutations that affect a single nucleotide pair in DNA. The figure below shows different types of point mutations and the effects they have on protein primary structure.
(a) Nucleotide-pair substitution
Wild type
DNA template strand 3' TA C TT CA A A C CGATT5'
5' ATGAAGTTTG GCTA A 3'
mRNA 5' A U G AAGU U UGG CUA A 3'
protein Met Lys Phe - Gly Stop
amino end-
carboxyl end
Missense
3'T ACTT CA
5'
5'AT GAAGTTTGGTTAA 3'
U instead of C
5'AUGA AGUUUGGUUA A 3'
Met Lys Phe Gly Stop
Silent (no effect on amino acid sequence)
T instead of C
3'TACTT CA A ATC GAT T5'
5'ATGAAGTTTA GCTA A 3'
A instead of G
5'AUGA AGUUU AGCU A A 3'
Met Lys Phe Ser Stop
A instead of G
CAA
A instead of T
3'TA CAT CA A A C C G ATT5'
5'ATGTAG TTT G G C TA A 3'
Nonsense
U instead of A
5'AU GUAGU U UGGU U A A 3¹
Met Stop
(b) Nucleotide-pair insertion or deletion
Extra A
3'T A CATT CA A A C C GATT5'
5A T G T A A GIII G G CT A A 3
Extra U
5 AUGUAAG U U UGG CU A A 3¹
Met Stop
Frameshift causing immediate nonsense (1 nucleotide-pair insertion)
A missing
3'T ACTT CA AC C G ATT 5'
5'ATGAAGTT G G C T AA 3′
Umissing
5'AUGAAGU UGG CUA A...3′
Met Lys Leu Ala...
Frameshift causing extensive missense (1 nucleotide-pair deletion)
TTC missing
3' TA CAAACC GATT5'
5 ATGTTTG GCTA A 3'
AA G missing
5'AUGUUUGG CUA A 3'
Met Phe Gly Stop
No frameshift, but one amino acid missing (3 nucleotide-
pair deletion). A 3 nucleotide-pair insertion (not shown)
would lead to an extra amino acid.
Transcribed Image Text:Part B - Point mutations The instructions for assembling polypeptides are contained in DNA. Consequently, mutations in DNA sometimes affect protein structure. A mutation will initially affect a protein's primary structure, but changes at higher levels of structure may follow. Point mutations are mutations that affect a single nucleotide pair in DNA. The figure below shows different types of point mutations and the effects they have on protein primary structure. (a) Nucleotide-pair substitution Wild type DNA template strand 3' TA C TT CA A A C CGATT5' 5' ATGAAGTTTG GCTA A 3' mRNA 5' A U G AAGU U UGG CUA A 3' protein Met Lys Phe - Gly Stop amino end- carboxyl end Missense 3'T ACTT CA 5' 5'AT GAAGTTTGGTTAA 3' U instead of C 5'AUGA AGUUUGGUUA A 3' Met Lys Phe Gly Stop Silent (no effect on amino acid sequence) T instead of C 3'TACTT CA A ATC GAT T5' 5'ATGAAGTTTA GCTA A 3' A instead of G 5'AUGA AGUUU AGCU A A 3' Met Lys Phe Ser Stop A instead of G CAA A instead of T 3'TA CAT CA A A C C G ATT5' 5'ATGTAG TTT G G C TA A 3' Nonsense U instead of A 5'AU GUAGU U UGGU U A A 3¹ Met Stop (b) Nucleotide-pair insertion or deletion Extra A 3'T A CATT CA A A C C GATT5' 5A T G T A A GIII G G CT A A 3 Extra U 5 AUGUAAG U U UGG CU A A 3¹ Met Stop Frameshift causing immediate nonsense (1 nucleotide-pair insertion) A missing 3'T ACTT CA AC C G ATT 5' 5'ATGAAGTT G G C T AA 3′ Umissing 5'AUGAAGU UGG CUA A...3′ Met Lys Leu Ala... Frameshift causing extensive missense (1 nucleotide-pair deletion) TTC missing 3' TA CAAACC GATT5' 5 ATGTTTG GCTA A 3' AA G missing 5'AUGUUUGG CUA A 3' Met Phe Gly Stop No frameshift, but one amino acid missing (3 nucleotide- pair deletion). A 3 nucleotide-pair insertion (not shown) would lead to an extra amino acid.
In this activity, you will examine three different mutations.
• Drag the white and purple labels to the white targets to indicate what each mutant mRNA codon codes for. (You will probably need to consult the codon table for mRNA .)
Drag the pink labels to the pink targets to indicate the type of mutation.
Drag the blue labels to the blue targets to indicate the effect on the polypeptide's primary structure.
Labels may be used once, more than once, or not at all.
Wild-type
Mutant 1
Mutant 2
Mutant 3
Stop
silent
min
DNA
3′ CTT 5'
Val
3' CAT 5'
5'
missense
mRNA
5' GAA 3 5' GAA 3'
GTA 3' 5' GUA 3'
3'
CTC 5'
5 GAG 3' 5' GAG3'
3'
ATT 5'
5' ΤΑΑ 3′ 5 UAA 3'
Glu
frameshift--extensive
missense
g
Amino acid
Glu
substitution
nonsense
Type of
mutation
N/A
insertion or
deletion
frameshift--immediate
nonsense
Effect on
polypeptide
normal
1
III
Reset
Help
Transcribed Image Text:In this activity, you will examine three different mutations. • Drag the white and purple labels to the white targets to indicate what each mutant mRNA codon codes for. (You will probably need to consult the codon table for mRNA .) Drag the pink labels to the pink targets to indicate the type of mutation. Drag the blue labels to the blue targets to indicate the effect on the polypeptide's primary structure. Labels may be used once, more than once, or not at all. Wild-type Mutant 1 Mutant 2 Mutant 3 Stop silent min DNA 3′ CTT 5' Val 3' CAT 5' 5' missense mRNA 5' GAA 3 5' GAA 3' GTA 3' 5' GUA 3' 3' CTC 5' 5 GAG 3' 5' GAG3' 3' ATT 5' 5' ΤΑΑ 3′ 5 UAA 3' Glu frameshift--extensive missense g Amino acid Glu substitution nonsense Type of mutation N/A insertion or deletion frameshift--immediate nonsense Effect on polypeptide normal 1 III Reset Help
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