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

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2:27 minutes

Problem C.1c

Textbook Question

Identify the normal functions of the following genes whose mutations are associated with the development of cancer.
p53(Li–Fraumeni syndrome)

Verified step by step guidance

Understand that the p53 gene is a tumor suppressor gene, which means its normal function is to regulate the cell cycle and prevent uncontrolled cell division.

Recognize that p53 plays a critical role in DNA damage response by either repairing damaged DNA or initiating apoptosis (programmed cell death) if the damage is irreparable.

Note that mutations in p53 can lead to loss of its tumor suppressor function, allowing cells with damaged DNA to proliferate, which contributes to cancer development.

Connect the mutation of p53 with Li–Fraumeni syndrome, a hereditary disorder characterized by a predisposition to multiple types of cancer due to defective p53 function.

Summarize that the normal function of p53 is to maintain genomic stability by controlling cell cycle checkpoints, DNA repair, and apoptosis, thereby preventing tumor formation.

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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 p53, are mutated, their protective function is lost, leading to increased cancer risk. They act as cellular 'brakes' to stop tumor development.

Function of p53 Gene

The p53 gene encodes a protein that monitors DNA integrity and can induce cell cycle arrest, DNA repair, or apoptosis in response to damage. It is often called the 'guardian of the genome' because it prevents propagation of mutated cells, thereby suppressing tumor formation.

Li–Fraumeni Syndrome

Li–Fraumeni syndrome is a hereditary disorder caused by germline mutations in the p53 gene, leading to a high predisposition to various cancers at a young age. Understanding this syndrome highlights the critical role of p53 in cancer prevention and genetic inheritance patterns.

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