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
- 19. Cancer Genetics29m
- 20. Quantitative Genetics1h 26m
- 21. Population Genetics50m
- 22. Evolutionary Genetics29m
13. Gene Regulation in Eukaryotes
Epigenetics, Chromatin Modifications, and Regulation
4: minutes
Problem 24e
Textbook Question
Textbook QuestionA particular type of anemia in humans, called β-thalassemia, results from a severe reduction or absence of the normal β-globin chain of hemoglobin. However, the γ-globin chain, normally only expressed during fetal development, can functionally substitute for β-globin. A variety of studies have explored the use of the nucleoside 5-azacytidine for the expression of γ-globin in adult patients with β-thalassemia.
Explain why this drug may also have some adverse side effects.
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Key Concepts
Here are the essential concepts you must grasp in order to answer the question correctly.
β-thalassemia
β-thalassemia is a genetic blood disorder characterized by reduced or absent production of the β-globin chain of hemoglobin, leading to anemia. This condition results from mutations in the HBB gene, which encodes the β-globin subunit. The lack of β-globin causes an imbalance in hemoglobin composition, resulting in ineffective erythropoiesis and hemolysis, which can lead to severe health complications.
γ-globin chain
The γ-globin chain is a component of fetal hemoglobin (HbF), which is predominantly produced during fetal development. In adults, the expression of γ-globin is typically suppressed, but it can substitute for β-globin in conditions like β-thalassemia. Therapeutic strategies, such as using 5-azacytidine, aim to reactivate γ-globin production in adults, potentially alleviating symptoms of the disease by improving hemoglobin function.
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Proteins
5-azacytidine
5-azacytidine is a nucleoside analog that acts as a demethylating agent, influencing gene expression by altering DNA methylation patterns. This drug has been studied for its ability to induce the expression of γ-globin in patients with β-thalassemia. However, its use can lead to adverse side effects, such as cytotoxicity and potential impacts on normal hematopoiesis, due to its broad effects on gene regulation and cellular processes.