You are interested in the effects of mutations on the expression of a human protein- encoding gene expressed in skin cells. The gene has one intron that is 450 nucleotides long. After this intron is removed from the pre-mRNA, the mRNA transcript is 1100 nucleotides in length. Diploid somatic cells have two copies of this gene. Predict the size and amount of mRNA from the cytosol of skin cells, which were obtained from the following individuals: • Individual 1: Normal individual with no mutations in this gene. • Individual 2: Homozygous for a deletion that removes the -10 to -100 region of the gene that encodes this mRNA. • Individual 3: Heterozygous in which one gene is normal and the other gene has a deletion that removes the -10 to -100 region. • Individual 4: Homozygous for a five-nucleotide deletion in the intron that removes the GT sequence at the 5' splice site. Explain your answers.

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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You are interested in the effects of mutations on the expression of a human protein-
encoding gene expressed in skin cells. The gene has one intron that is 450
nucleotides long. After this intron is removed from the pre-mRNA, the mRNA
transcript is 1100 nucleotides in length. Diploid somatic cells have two copies of this
gene. Predict the size and amount of mRNA from the cytosol of skin cells, which
were obtained from the following individuals:
• Individual 1: Normal individual with no mutations in this gene.
• Individual 2: Homozygous for a deletion that removes the -10 to -100 region of
the gene that encodes this mRNA.
• Individual 3: Heterozygous in which one gene is normal and the other gene has a
deletion that removes the -10 to -100 region.
• Individual 4: Homozygous for a five-nucleotide deletion in the intron that
removes the GT sequence at the 5' splice site.
Explain your answers.
Transcribed Image Text:You are interested in the effects of mutations on the expression of a human protein- encoding gene expressed in skin cells. The gene has one intron that is 450 nucleotides long. After this intron is removed from the pre-mRNA, the mRNA transcript is 1100 nucleotides in length. Diploid somatic cells have two copies of this gene. Predict the size and amount of mRNA from the cytosol of skin cells, which were obtained from the following individuals: • Individual 1: Normal individual with no mutations in this gene. • Individual 2: Homozygous for a deletion that removes the -10 to -100 region of the gene that encodes this mRNA. • Individual 3: Heterozygous in which one gene is normal and the other gene has a deletion that removes the -10 to -100 region. • Individual 4: Homozygous for a five-nucleotide deletion in the intron that removes the GT sequence at the 5' splice site. Explain your answers.
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