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

19. Cancer Genetics

Overview of Cancer

Genetics

19. Cancer Genetics

Overview of Cancer

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2:09 minutes

Problem C.11c

Textbook Question

Go to the website http://www.ncbi.nlm.nih.gov/omim and enter 'Lynch syndrome' in the Search box at the top of the page. From the list of options given, select '#120435—Lynch Syndrome.' Use the information you retrieve to answer the following questions. Provide a brief summary of the normal functions of the protein products of these genes.

Verified step by step guidance

Understand that Lynch syndrome is primarily associated with mutations in mismatch repair (MMR) genes, which produce proteins responsible for correcting DNA replication errors.

Visit the website http://www.ncbi.nlm.nih.gov/omim and enter 'Lynch syndrome' in the search box to locate the entry '#120435—Lynch Syndrome.'

Review the gene list associated with Lynch syndrome in the OMIM entry, focusing on key genes such as MLH1, MSH2, MSH6, and PMS2, which encode proteins involved in DNA mismatch repair.

Summarize the normal function of these proteins by explaining that they form complexes that recognize and repair mismatched bases or insertion-deletion loops during DNA replication, maintaining genomic stability.

Highlight that the proper function of these proteins prevents accumulation of mutations, thereby reducing the risk of cancer development, which is compromised in Lynch syndrome due to defective mismatch repair.

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Key Concepts

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

Lynch Syndrome and Its Genetic Basis

Lynch syndrome is an inherited disorder caused by mutations in DNA mismatch repair (MMR) genes. It significantly increases the risk of colorectal and other cancers. Understanding the syndrome requires knowledge of how these gene mutations disrupt normal cellular processes, leading to cancer development.

DNA Mismatch Repair (MMR) System

The DNA mismatch repair system corrects errors that occur during DNA replication, such as base mismatches and insertion-deletion loops. Key proteins encoded by MMR genes recognize and repair these errors to maintain genomic stability and prevent mutations that could lead to cancer.

Protein Function of MMR Genes in Lynch Syndrome

Proteins produced by MMR genes, such as MLH1, MSH2, MSH6, and PMS2, form complexes that detect and repair DNA mismatches. Their normal function is crucial for preventing accumulation of mutations; loss of function due to mutations impairs repair, increasing cancer risk.

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