E) Suppose you isolate a mutant mouse that has white eyes. When you examine the size of the eye pigment enzyme produced by this mouse, you see that it is 400 amino acids long. Sequence analysis reveals that the AG sequence (3’splice site) that is adjacent to the 5’ end of exon 3 has been changed to a CC. Draw the resulting mRNA transcript that is produced as a result of this mutation and explain how a protein of 400 amino acids is obtained.

Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
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Question 1.

Suppose that the diagram below represents the genomic organization of an enzyme involved in eye pigment production in mice. Within the gene are four exons. Biochemical analysis has revealed that the active site of the enzyme is located in the C terminus of the protein.

  • The nucleotide length of each exon and intron is shown.
  • The dinucleotide sequence GT represents the 5’ splice site and the dinucleotide sequence AG represents the 3’ splice site. Both the 5’ and the 3’ splice sites must be present for splicing to occur.

Assume that the first and second stop codons are located immediately after the first and second 5’ splice sites, respectively; the third and fourth stop codons are located near the 3’ end of exons 3 and 4, respectively; all these stop codons are in the correct reading frame.

E) Suppose you isolate a mutant mouse that has white eyes. When you examine the size of the eye pigment enzyme produced by this mouse, you see that it is 400 amino acids long. Sequence analysis reveals that the AG sequence (3’splice site) that is adjacent to the 5’ end of exon 3 has been changed to a CC.

Draw the resulting mRNA transcript that is produced as a result of this mutation and explain how a protein of 400 amino acids is obtained.

Start of transcription
ATG
stop
stop
stop
stop
GT
AG
GT
2
GT
AG
5'
1
AG
4
3'
1,000
3,000
2,000
500
400
300
250
Transcribed Image Text:Start of transcription ATG stop stop stop stop GT AG GT 2 GT AG 5' 1 AG 4 3' 1,000 3,000 2,000 500 400 300 250
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