Table of contents

1. Introduction to Genetics51m
2. Mendel's Laws of Inheritance3h 37m
3. Extensions to Mendelian Inheritance2h 41m
4. Genetic Mapping and Linkage2h 28m
5. Genetics of Bacteria and Viruses1h 21m
6. Chromosomal Variation1h 48m
7. DNA and Chromosome Structure56m
8. DNA Replication1h 10m
9. Mitosis and Meiosis1h 34m
10. Transcription1h 0m
11. Translation58m
12. Gene Regulation in Prokaryotes1h 19m
13. Gene Regulation in Eukaryotes44m
14. Genetic Control of Development44m
15. Genomes and Genomics1h 50m
16. Transposable Elements47m
17. Mutation, Repair, and Recombination1h 6m
18. Molecular Genetic Tools19m
- Genetic Cloning
  9m
- Methods for Analyzing DNA
  9m
19. Cancer Genetics29m
- Overview of Cancer
  21m
- Cancer Mutations
  7m
20. Quantitative Genetics1h 26m
21. Population Genetics50m
- Hardy Weinberg
  19m
- Allelic Frequency Changes
  31m
22. Evolutionary Genetics29m

17. Mutation, Repair, and Recombination

Types of Mutations

Genetics

17. Mutation, Repair, and Recombination

Types of Mutations

Previous problemNext problem

2:15 minutes

Problem C.1a

Textbook Question

Identify the normal functions of the following genes whose mutations are associated with the development of cancer.
RB1(retinoblastoma)

Verified step by step guidance

Understand that the RB1 gene is a tumor suppressor gene, which means its normal function is to regulate cell cycle progression and prevent uncontrolled cell division.

Recognize that the RB1 protein plays a critical role in controlling the transition from the G1 phase to the S phase of the cell cycle by inhibiting E2F transcription factors, which promote DNA replication.

Note that when RB1 is functioning normally, it binds to E2F and keeps it inactive, thereby preventing cells from prematurely entering the DNA synthesis phase.

Realize that mutations in RB1 lead to loss of this regulatory function, allowing cells to divide uncontrollably, which contributes to the development of cancers such as retinoblastoma.

Summarize that the normal function of RB1 is to act as a gatekeeper in the cell cycle, ensuring cells only divide when appropriate, thus maintaining genomic stability.

Verified video answer for a similar problem:

This video solution was recommended by our tutors as helpful for the problem above

Video duration:

Play a video:

Was this helpful?

Key Concepts

Here are the essential concepts you must grasp in order to answer the question correctly.

Tumor Suppressor Genes

Tumor suppressor genes produce proteins that regulate cell growth and division, preventing uncontrolled proliferation. When these genes, like RB1, are mutated or inactivated, cells can grow uncontrollably, leading to cancer development.

Function of the RB1 Gene

The RB1 gene encodes the retinoblastoma protein (pRB), which controls the cell cycle by inhibiting progression from the G1 to S phase. It acts as a checkpoint to prevent excessive cell division, and loss of its function removes this control, promoting tumor formation.

Mechanism of Cancer Development via Gene Mutation

Mutations in genes like RB1 disrupt normal cellular functions, such as cell cycle regulation, DNA repair, or apoptosis. This disruption allows abnormal cells to survive and proliferate, contributing to cancer initiation and progression.

Watch next

Master Point Mutations with a bite sized video explanation from Kylia

Start learning

Related Videos

Related Practice

Textbook Question

Identify the normal functions of the following genes whose mutations are associated with the development of cancer.

c-MYC(Burkitt lymphoma)

426

views

Textbook Question

Identify the normal functions of the following genes whose mutations are associated with the development of cancer.

APC(familial adenomatous polyposis)

441

views

Textbook Question

Identify the normal functions of the following genes whose mutations are associated with the development of cancer.

Which of these genes would you classify as a proto-oncogene and which as a tumor suppressor gene? Explain your categorization for each gene.

432

views

Textbook Question

Identify the normal functions of the following genes whose mutations are associated with the development of cancer.

p53(Li–Fraumeni syndrome)

505

views

Textbook Question

How do we know that mutations occur randomly?

629

views

Textbook Question

Go online to the Online Mendelian Inheritance of Man (OMIM) website. Look up the following genetic conditions and answer the questions posed about them.

Go to the 'Molecular Genetics' section and describe the most common mutation of the CF gene.

384

views

Textbook Question

Go online to the Online Mendelian Inheritance of Man (OMIM) website. Look up the following genetic conditions and answer the questions posed about them.

Look up cystic fibrosis (CF), OMIM 602421, and give the gene name and abbreviation and the chromosome location of the gene.

567

views

Textbook Question

Go online to the Online Mendelian Inheritance of Man (OMIM) website. Look up the following genetic conditions and answer the questions posed about them.

Go to the 'Population Genetics' section discussing the TSD gene. In a few sentences, summarize the human population in which TSD is most frequently found and give the approximate frequency of heterozygous carriers for the TSD mutation in North American Jews.

468

views

Show more practices

Download the Mobile app

Privacy

Do not sell my personal information

Accessibility

Patent notice

Sitemap

Identify the normal functions of the following genes whose mutations are associated with the development of cancer.RB1(retinoblastoma)

Key Concepts

Tumor Suppressor Genes

Function of the RB1 Gene

Mechanism of Cancer Development via Gene Mutation

Watch next

Identify the normal functions of the following genes whose mutations are associated with the development of cancer.
RB1(retinoblastoma)