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Ch. 3 - Cell Division and Chromosome Heredity
Sanders - Genetic Analysis: An Integrated Approach 3rd Edition
Sanders3rd EditionGenetic Analysis: An Integrated ApproachISBN: 9780135564172Not the one you use?Change textbook
Chapter 3, Problem C.3c

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.
Using RB1⁺ for the normal wild-type allele and RB1⁻ for the mutant allele, identify the genotype of a cell in a retinoblastoma tumor.

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Understand that retinoblastoma is caused by mutations in the RB1 gene, where RB1⁺ represents the normal (wild-type) allele and RB1⁻ represents the mutant allele.
Recognize that individuals with a dominant predisposition inherit one mutated allele (RB1⁻) but cancer develops only after a second mutation occurs in the other allele within a cell.
Recall the 'two-hit hypothesis' which states that both copies of the RB1 gene must be inactivated (mutated) in a single cell for the tumor to form.
Therefore, the genotype of a cell in a retinoblastoma tumor will have both alleles mutated, meaning it will be homozygous mutant: RB1RB1.
Summarize that the tumor cell genotype is RB1^{-}RB1^{-}, indicating loss of function of both RB1 alleles, which leads to uncontrolled cell growth and cancer.

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Key Concepts

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

Tumor Suppressor Genes and the RB1 Gene

Tumor suppressor genes like RB1 produce proteins that regulate cell growth and prevent cancer. The RB1 gene encodes a protein that controls the cell cycle, and mutations in RB1 can lead to loss of this control, promoting tumor development. Both copies of the gene typically need to be inactivated for cancer to occur.
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Mapping Genes

Knudson's Two-Hit Hypothesis

This hypothesis explains that two mutations ('hits') are required to inactivate both alleles of a tumor suppressor gene for cancer to develop. In hereditary retinoblastoma, one mutated allele (RB1⁻) is inherited, and a second somatic mutation inactivates the other allele, leading to tumor formation.
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Translation:Wobble Hypothesis

Genotype of Retinoblastoma Tumor Cells

In retinoblastoma tumor cells, both RB1 alleles are mutated or inactivated (RB1⁻/RB1⁻), resulting in loss of tumor suppressor function. Although the inherited mutation is dominant in predisposition, the tumor cells themselves are homozygous or functionally null for RB1, driving cancer progression.
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Cell-cell interactions
Related Practice
Textbook Question

Our closest primate relative, the chimpanzee, has a diploid number of 2n = 48. For each of the following stages of M phase, identify the number of chromosomes present in each cell.

Mitotic metaphase

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Textbook Question

Our closest primate relative, the chimpanzee, has a diploid number of 2n = 48. For each of the following stages of M phase, identify the number of chromosomes present in each cell.

Early prophase I

Textbook Question

In a test of his chromosome theory of heredity, Morgan crossed a female Drosophila with red eyes to a male with white eyes. The females were produced from Cross A, shown in the Figure below. Predict the offspring Morgan would have expected under his hypothesis that the gene for eye color is on the X chromosome in fruit flies.

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.


What is the genotype of a normal cell in the retina in a person who has sporadic retinoblastoma? What is the normal cell genotype if the person has hereditary retinoblastoma? Explain the reason for the difference between the genotypes.

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Textbook Question

Cohesion between sister chromatids, as well as tension created by the pull of kinetochore microtubules, is essential to ensure efficient separation of chromatids at mitotic anaphase or in meiotic anaphase II. Explain why sister chromatid cohesion is important, and discuss the role of the proteins cohesin and separase in sister chromatid separation.

Textbook Question

The diploid number of the hypothetical animal Geneticus introductus is 2n = 36. Each diploid nucleus contains 3 ng of DNA in G₁.

What amount of DNA is contained in each nucleus at the end of the S phase?