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.

The animation illustrates the concept of RNA splicing in molecular biology. It focuses on the process of removing introns and joining exons in pre-mRNA to form mature mRNA, which is ready for translation into proteins.

**Description of the Animation:**

1. **Exons (Blue Segments):** The blue segments represent exons, the coding regions of the gene that will remain in the final mRNA product.

2. **Introns (Yellow Loop):** The yellow loop signifies introns, the non-coding regions that need to be removed during the splicing process.

3. **Splice Site (Labeled 'A'):** The location marked by 'A' indicates the splice site, where the cutting and joining of exons occur. 

**Process Explanation:**

- The animation begins with one long RNA segment, consisting of both exons and introns.
  
- As the animation proceeds, the yellow loop (representing the intron) detaches, folding to bring the exon segments closer together.

- The spliceosome, a complex of enzymes (not explicitly shown but implied), facilitates this cutting and rejoining process at the splice site 'A'.

- Finally, the two blue segments are joined together, representing the completed splicing process, resulting in mature mRNA that can be translated into a protein.

This visualization helps to understand how cells process genetic information to create functional proteins, crucial for countless cellular functions.
Transcribed Image Text:The animation illustrates the concept of RNA splicing in molecular biology. It focuses on the process of removing introns and joining exons in pre-mRNA to form mature mRNA, which is ready for translation into proteins. **Description of the Animation:** 1. **Exons (Blue Segments):** The blue segments represent exons, the coding regions of the gene that will remain in the final mRNA product. 2. **Introns (Yellow Loop):** The yellow loop signifies introns, the non-coding regions that need to be removed during the splicing process. 3. **Splice Site (Labeled 'A'):** The location marked by 'A' indicates the splice site, where the cutting and joining of exons occur. **Process Explanation:** - The animation begins with one long RNA segment, consisting of both exons and introns. - As the animation proceeds, the yellow loop (representing the intron) detaches, folding to bring the exon segments closer together. - The spliceosome, a complex of enzymes (not explicitly shown but implied), facilitates this cutting and rejoining process at the splice site 'A'. - Finally, the two blue segments are joined together, representing the completed splicing process, resulting in mature mRNA that can be translated into a protein. This visualization helps to understand how cells process genetic information to create functional proteins, crucial for countless cellular functions.
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 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.

**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?

Choose one:
- **A.** Mutation of exon junction site
- **B.** Mutation of lariat branch point
- **C.** Mutation of 5′ splice site
- **D.** Mutation of 3′ splice site
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 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. **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? Choose one: - **A.** Mutation of exon junction site - **B.** Mutation of lariat branch point - **C.** Mutation of 5′ splice site - **D.** Mutation of 3′ splice site
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