Studying the gene further in vitro showed that the U2 snRNP did not bind to the mutated RNA from affected patients. Which of the following mutations could explain the abnormal splicing of the mutated XPC gene? Choose one: O A. Mutation of exon junction site O B. Mutation of lariat branch point O C. Mutation of 5' splice site OD. Mutation of 3' splice site

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
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
icon
Related questions
Topic Video
Question

The animated figure below shows formation of the lariat during mRNA splicing. Consider this figure as you answer the following question.

A
Transcribed Image Text:A
The animated figure shows the normal splicing process used to remove introns from eukaryotic mRNA. The XPC gene codes for a
protein that functions in DNA repair. This gene contains 16 exons with the first 5 shown in Figure A. Defects in splicing can lead to
human disease. Individuals with xeroderma pigmentosum have high levels of skin cancer due to defects in the nucleotide excision DNA
repair process because of nonfunctional XPC protein. DNA damage caused by exposure to the UV rays in sunlight is not repaired
leading to mutations in critical genes that control the cell cycle leading to high rates of skin cancer. Several members of a particular
family were found to have a mutation in intron 3 of the XPC DNA repair gene (Figure B). The mutation disrupted normal splicing leading
to skipping of exon 4 and little to no functional XPC protein in their cells.
(A)
(B)
exon 1
exon 1
exon 2
exon 3
exon 2
exon 4
SPLICING
4
functional XPC protein
intron 3 mutation
exon 3
SPLICING
35
mRNA
mRNA
exon S
exon 5
Choose one:
O A. Mutation of exon junction site
O B. Mutation of lariat branch point
O C. Mutation of 5' splice site
O D. Mutation of 3' splice site
pre-mRNA transcript
pre-mRNA transcript
nonfunctional XPC protein
Figure A. The pre-mRNA transcript spanning the first 5 exons of the XPC gene is shown with introns (yellow) between the exons.
Splicing removes the introns, generating the functional mRNA
Figure B. The intron 3 mutation leads to skipping of exon 4 and nonfunctional XPC protein.
Studying the gene further in vitro showed that the U2 snRNP did not bind to the mutated RNA from affected patients. Which of the
following mutations could explain the abnormal splicing of the mutated XPC gene?
Transcribed Image Text:The animated figure shows the normal splicing process used to remove introns from eukaryotic mRNA. The XPC gene codes for a protein that functions in DNA repair. This gene contains 16 exons with the first 5 shown in Figure A. Defects in splicing can lead to human disease. Individuals with xeroderma pigmentosum have high levels of skin cancer due to defects in the nucleotide excision DNA repair process because of nonfunctional XPC protein. DNA damage caused by exposure to the UV rays in sunlight is not repaired leading to mutations in critical genes that control the cell cycle leading to high rates of skin cancer. Several members of a particular family were found to have a mutation in intron 3 of the XPC DNA repair gene (Figure B). The mutation disrupted normal splicing leading to skipping of exon 4 and little to no functional XPC protein in their cells. (A) (B) exon 1 exon 1 exon 2 exon 3 exon 2 exon 4 SPLICING 4 functional XPC protein intron 3 mutation exon 3 SPLICING 35 mRNA mRNA exon S exon 5 Choose one: O A. Mutation of exon junction site O B. Mutation of lariat branch point O C. Mutation of 5' splice site O D. Mutation of 3' splice site pre-mRNA transcript pre-mRNA transcript nonfunctional XPC protein Figure A. The pre-mRNA transcript spanning the first 5 exons of the XPC gene is shown with introns (yellow) between the exons. Splicing removes the introns, generating the functional mRNA Figure B. The intron 3 mutation leads to skipping of exon 4 and nonfunctional XPC protein. Studying the gene further in vitro showed that the U2 snRNP did not bind to the mutated RNA from affected patients. Which of the following mutations could explain the abnormal splicing of the mutated XPC gene?
Expert Solution
trending now

Trending now

This is a popular solution!

steps

Step by step

Solved in 3 steps with 4 images

Blurred answer
Knowledge Booster
Gene expression
Learn more about
Need a deep-dive on the concept behind this application? Look no further. Learn more about this topic, biology and related others by exploring similar questions and additional content below.
Similar questions
Recommended textbooks for you
Human Anatomy & Physiology (11th Edition)
Human Anatomy & Physiology (11th Edition)
Biology
ISBN:
9780134580999
Author:
Elaine N. Marieb, Katja N. Hoehn
Publisher:
PEARSON
Biology 2e
Biology 2e
Biology
ISBN:
9781947172517
Author:
Matthew Douglas, Jung Choi, Mary Ann Clark
Publisher:
OpenStax
Anatomy & Physiology
Anatomy & Physiology
Biology
ISBN:
9781259398629
Author:
McKinley, Michael P., O'loughlin, Valerie Dean, Bidle, Theresa Stouter
Publisher:
Mcgraw Hill Education,
Molecular Biology of the Cell (Sixth Edition)
Molecular Biology of the Cell (Sixth Edition)
Biology
ISBN:
9780815344322
Author:
Bruce Alberts, Alexander D. Johnson, Julian Lewis, David Morgan, Martin Raff, Keith Roberts, Peter Walter
Publisher:
W. W. Norton & Company
Laboratory Manual For Human Anatomy & Physiology
Laboratory Manual For Human Anatomy & Physiology
Biology
ISBN:
9781260159363
Author:
Martin, Terry R., Prentice-craver, Cynthia
Publisher:
McGraw-Hill Publishing Co.
Inquiry Into Life (16th Edition)
Inquiry Into Life (16th Edition)
Biology
ISBN:
9781260231700
Author:
Sylvia S. Mader, Michael Windelspecht
Publisher:
McGraw Hill Education