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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.4a
Chapter 14, Problem C.4a

Explain the following processes involving chromosome mutations and cancer development.
How the chromosome mutation producing the Philadelphia chromosome leads to CML.

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1
Understand that the Philadelphia chromosome is a specific chromosomal abnormality resulting from a translocation between chromosome 9 and chromosome 22, denoted as t(9;22)(q34;q11).
Recognize that this translocation fuses part of the BCR gene from chromosome 22 with part of the ABL1 gene from chromosome 9, creating a novel fusion gene called BCR-ABL1.
Know that the BCR-ABL1 fusion gene encodes a constitutively active tyrosine kinase enzyme, which means it is always 'on' and continuously signals cells to proliferate.
Understand that this abnormal signaling leads to uncontrolled growth and division of myeloid cells in the bone marrow, disrupting normal blood cell production.
Connect this uncontrolled proliferation of myeloid cells to the development of chronic myelogenous leukemia (CML), a type of cancer characterized by excessive accumulation of these abnormal white blood cells.

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Key Concepts

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

Philadelphia Chromosome

The Philadelphia chromosome is a specific abnormal chromosome formed by a translocation between chromosomes 9 and 22. This translocation fuses the BCR gene from chromosome 22 with the ABL gene from chromosome 9, creating the BCR-ABL fusion gene, which produces an abnormal tyrosine kinase protein.
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Chromosome Structure

Chromosome Mutation and Translocation

Chromosome translocation is a mutation where segments from two different chromosomes swap places. This can disrupt normal gene function or create fusion genes, leading to altered cellular behavior. In the case of the Philadelphia chromosome, this mutation activates oncogenic pathways.
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Reciprocal Translocation

Chronic Myelogenous Leukemia (CML) Development

CML is a type of cancer caused by the uncontrolled proliferation of white blood cells due to the BCR-ABL fusion protein's constant tyrosine kinase activity. This abnormal signaling promotes cell division and inhibits apoptosis, leading to leukemia progression.
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Genetics of Development
Related Practice
Textbook Question

For the retinal cancer retinoblastoma, the inheritance of one mutated copy of RB1 from one of the parents is often referred to as a mutation that produces a 'dominant predisposition to cancer.' This means that the first mutation does not produce cancer but makes it very likely that cancer will develop.

Explain why cancer is almost certain to develop with the inheritance of one mutated copy of RB1.

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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.

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Textbook Question

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

APC(familial adenomatous polyposis)

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Textbook Question

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

c-MYC(Burkitt lymphoma)

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Textbook Question

Go to the website http://www.cancer.gov and select 'Cancer Types' on the top menu bar. Scroll down to 'Breast Cancer' and click. Select 'Cases & Prevention' from the options. Click 'More information' and select 'BRCA Mutations: Cancer Risk and Genetic Testing'. Use the information on this page to answer the following questions. As a special project, instead of selecting 'Breast Cancer' from the list of types of cancer, select another cancer you would like to know more about and produce a short summary of what you find.

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Textbook Question

What kind of information will be made available by The Cancer Genome Atlas (TCGA)? What sort of role do you think TCGA information will play in cancer diagnosis and cancer treatment in the future?

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