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Ch. 14 - Analysis of Gene Function via Forward Genetics and Reverse Genetics
Sanders - Genetic Analysis: An Integrated Approach 3rd Edition
Sanders3rd EditionGenetic Analysis: An Integrated ApproachISBN: 9780135564172Not the one you use?Change textbook
All textbooksSanders 3rd EditionCh. 14 - Analysis of Gene Function via Forward Genetics and Reverse GeneticsProblem C.11c
Chapter 14, Problem C.11c

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.

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1
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.
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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.
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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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Related Practice
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. What genes are most commonly mutated in Lynch syndrome?

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. What are the approximate rates of cancer that develop in people carrying a mutation of one of these genes?

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. There are two types of Lynch syndrome. What are they?

Textbook Question

You have identified a recessive mutation that alters bristle patterning in Drosophila and have used recombinant DNA technology to identify a genomic clone that you believe harbors the gene. How would you demonstrate that your gene is on the genomic clone?

Textbook Question

Genetic counseling has not been discussed in this chapter, but it is a service provided by trained professional counselors who also have detailed knowledge of medical genetics, as described in Application Chapter A. Genetic counselors provide details about gene mutations and have knowledge of most of the details of diseases associated with genetic abnormalities. With regard to genetic testing to identify one's personal risk of cancer, what are the three or four topics you think are most important to be able to discuss with a genetic counselor?

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Textbook Question

The CBF genes of Arabidopsis are induced by exposure of the plants to low temperature. How would you examine the temporal and spatial patterns of expression after induction by low temperature?