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Questions and Answers
What type of mutation involves the removal of regions of DNA?
What type of mutation involves the removal of regions of DNA?
Which of the following is an example of a chromosome rearrangement?
Which of the following is an example of a chromosome rearrangement?
What mutation type is characterized by an increased copy number of a gene?
What mutation type is characterized by an increased copy number of a gene?
Which of the following genes is associated with single nucleotide mutations at critical sites?
Which of the following genes is associated with single nucleotide mutations at critical sites?
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What is a consequence of RB1 mutation in the context provided?
What is a consequence of RB1 mutation in the context provided?
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The Philadelphia chromosome is primarily associated with which type of mutation?
The Philadelphia chromosome is primarily associated with which type of mutation?
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Which of the following mutations would likely result in significant functional changes to a protein?
Which of the following mutations would likely result in significant functional changes to a protein?
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Which gene is most commonly amplified in tumorigenesis?
Which gene is most commonly amplified in tumorigenesis?
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Study Notes
Cancer as an Acquired Genetic Disease
- Cancers are acquired genetic diseases stemming from gene dysregulation.
- Oncogenes and tumor suppressor genes play critical roles in cancer development.
- Mutations are a cause of cancer, altering gene functions.
DNA to Protein Translation
- Genes encode proteins.
- Transcription converts DNA into pre-mRNA.
- Pre-mRNA is processed (splicing) into mRNA (introns removed), leaving only the exons.
- mRNA moves to the cytoplasm for translation.
- Translation converts mRNA into a protein.
Chromatin and DNA Packaging
- DNA wraps around histone proteins to form chromatin.
- Modifications (e.g., acetylation, phosphorylation, methylation) of histone tails regulate the tightness of DNA packaging, impacting gene accessibility.
- Modification of histone tails alters how tightly packaged DNA is and affects gene accessibility.
RB1 Gene and Mutatations
- RB1 is a gene responsible for producing a protein important in regulating cell growth.
- Mutations in the RB1 gene can lead to uncontrolled cell division, contributing to cancer.
- RB1 deletions can remove its tumor suppressor effect.
- Single base mutations in splicing sites can disrupt the gene and result in non-functional RB1.
INK4, a Family of Tumor Suppressors
- INK4 is a family of cyclin-dependent kinase inhibitors.
- INK4 prevents cell cycle progression by inhibiting CDK4/6 and cyclin D.
- INK4 deletions remove the tumor suppressor effect of INK4.
ARF, another Tumor Suppressor
- ARF is a GTP-binding protein, inhibiting MDM2.
- MDM2 enhances the targeting of p53 for degradation.
- ARF deletion removes the tumor suppressor effect of p53.
Philadelphia Chromosome (CML)
- A genetic abnormality specific to chronic myeloid leukemia.
- Characterized by a reciprocal translocation between chromosomes 9 and 22.
- Fusing of ABL1 and BCR genes creates a constitutively active tyrosine kinase.
- Tyrosine kinases can be inhibited by drugs like imatinib (Gleevec).
MDM2 Amplification
- MDM2 is a negative regulator of p53.
- MDM2 amplification (increased copy number), found in several cancers, reduces p53 levels, potentially promoting cancer.
RAS Mutations
- RAS mutations (at codons 12, 13, and 61) in many cancers.
- Leads to constitutive activation of RAS proteins, often associated with uncontrolled cell activity.
TP53 Gene (P53) and Mutations
- TP53 is a critical tumor suppressor gene, involved in cell cycle regulation and apoptosis.
- Frequent mutations in TP53 (more than 70% of cancers) are associated with a loss of its tumor suppressor function.
- Mutations may occur in the DNA binding domain of P53 (30% of cases).
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Description
Explore the relationship between genetic mutations and cancer development, focusing on the role of oncogenes and tumor suppressor genes. This quiz also covers essential processes like DNA to protein translation and chromatin packaging, emphasizing their impact on gene expression.
