What is the effect of those mutations on the structure of the protein?

Biology by Geoffrey

Part A. Research the following diseases:

  1. Sickle cell anemia
  2. Huntington’s disease

For both diseases, answer each of the following questions:

  1. What type of mutation causes these diseases?
  2. Do all mutations cause disease?
  3. What is the effect of those mutations on the structure of the protein?
  4. Are these mutations present in the DNA, RNA, or both? Explain
  5. Are these mutations the result of a mistake in DNA replication or transcription? Explain. Which type of cells must contain this mutation in order to be a heritable mutation? Explain.
  6. The genetic code is read in triplets. What would happen if you add 3 new nucleotides to a gene?
  7. What is the heritability pattern of these diseases (dominant, recessive, incomplete dominance, etc)?
  8. What would be the phenotype of a heterozygous person?
  9. If the father has the disease but the mother doesn’t have the disease, what are the chances that the offspring will inherit these diseases? (assume both parents are homozygous, then do it again assuming one parent is homozygous and the other is heterozygous)
  10. Can you copy the gene region in a human chromosome and insert it into a bacterium directly? (The tech tools to do this exist, but we don’t do it that way, why? HINT: Think about how RNA polymerase binds to the promoter region in prokaryotes vs eukaryotes, think about the modifications to the RNA that happen in eukaryotes) ExplainPart B. Huntington’s:
  11. You are studying which of the multiple steps in gene expression you could tweak in order to produce a normal version of the huntingtin protein despite having the allele with the mutation. Which step in gene expression would be the most promising?
  12. The protein produced by Huntington’s disease (huntingtin) interferes with general transcription factor (called CBP) and prevents it from binding the promoter. CBP activates genes involved in cell survival. i) Which step in gene expression is huntingtin preventing? ii) In the presence of huntingtin, are the genes activated by CBP expressed? Explain. iii) could this effect be produced in a prokaryote, why?
  13. The mutation for Huntington’s disease appears to have originated in Western Europe, with a prevalence of 7 in 100,000 people. However, an isolated population in Lake Maracaibo in Venezuela, of European descent, have an increased prevalence of 700 in 100,000. Which population genetics phenomenon could be responsible for this?
  14. Huntington’s disease affects individuals late into adulthood, after most individuals have already reproduced. Can Natural Selection shape traits that have an effect after reproductive age?
  15. What would happen to a patient with Huntington’s if you somehow manage to block the promoter region of the huntingtin gene?
    Sickle-cell anemia:
  16. Sickle-cell anemia is caused by an abnormal hemoglobin molecule that changed the shape of red blood cells. This disease can lead to various health complications that are often lethal. However, heterozygous individuals have minor symptoms. Moreover, heterozygous individuals show an advantage with decreased vulnerability to Malaria. The allele for Sickle-cell anemia is most common in tropical areas where malaria is common. Which population genetics phenomenon could be responsible for this?
  17. Given what you know about how Natural Selection works, explain why Sickle cell disease hasn’t been eradicated from the population.
  18. Social unrest in West Africa, where Sickle cell anemia is most common, is forcing people to migrate to other countries. Which population genetics phenomenon is driven by migration?
  19. A small group of people moved to a new uninhabited territory and established the new Kingdom of Wakanda. Two of the individuals in this population develop a blue fluorescent glow when exposed to the metal vibranium, which is very abundant in Wakanda. Individuals from the opposite sex find this blue glow very attractive. Which deviations from Hardy-Weinberg Equilibrium are taking place in this population?
  20. Let’s say that Robert Baratheon, despite being king, was unlucky enough to be heterozygous from Huntington’s disease and heterozygous polycystic kidney disease-2 (caused by a mutation in the Polycystin-2 gene). Robert inherited both diseases from his father, his mother was healthy. Assuming the genes for Huntington’s disease and polycystic kidney disease-2 are located close together on the same chromosome, and knowing he got both diseases from his father, what are the genotypes of the gametes that Robert can produce and would all be equally as common or would some be more common than others?
  21. What event in meiosis is the main source of genetic recombination in genes that are close together on the same chromosome?
  22. One of Robert’s brothers is colorblind (a sex-linked condition) and will not be able to become a warrior. Robert is not colorblind but he is worried that one of his kids may be colorblind just like Robert’s brother. What are the chances of this happening? One of Robert’s sons did turn out to be colorblind, how would you explain this?
  23. Sickle-cell disease is caused by a mutation in the hemoglobin gene located on chromosome 11. While Huntington’s disease is caused by a mutation in the Huntingtin gene located on chromosome 4. What can you infer about the inheritance of these diseases? Are the genes for Huntington and Sickle cell anemia genetically linked? Would they satisfy Mendelian ratios? Explain

    Part C.

  24. Steroid hormones, such as estrogen & testosterone, are derived from cholesterol. What type of macromolecule are they?
  25. Can steroid hormones cross the plasma membrane? What type of transport would they require?
  26. During puberty, the production of steroid hormones in the gonads rises and it is released into the blood stream. What is the concentration gradient of the blood in comparison to other cells in the body? In which direction will testosterone move?
  27. Where do you expect the receptors for steroid hormones to be located?
  28. They often have long-term developmental effects, such as hair growth, muscle mass increases, sexual development, gamete production, etc. How can steroid hormones be responsible for these long-term effects?
  29. We all derived from a single cell called a zygote, which resulted when a sperm cell fertilized an egg. Yet, we have many different types of cells that perform very different functions. How is this possible?
  30. Some steroid hormones stimulate tissue growth, such as estrogen’s effect on breast tissue. Which type of cell division is being activated?
  31. Birth control pills are mostly composed of estrogen and they have been linked to higher risk of breast cancer. Formulate the relationship between estrogen, cancer and the cell cycle.
  32. Cancer cells divide very often. What happens to the chromosome of cells? How can they counter it? Can this also happen in prokaryotic cells?
  33. We used the analogy of comparing a cell to a university, where the DNA is the collection of recipe books in the library, the RNA transcripts are the photocopies of specific chapters of those books, ribosomes are the cooks. In this analogy, what is each book equivalent to and what is each book chapter equivalent to?

    Part D.
  34. Energy drinks have two key ingredients, one is sugar, and they have lots of it! What we call sugar is the disaccharide sucrose, which is composed of glucose and fructose. The other component is some sort of metabolism stimulant, like caffeine. Do energy drinks really provide energy? If so, how do your cells get that energy from the drink? What if it’s a sugar free energy drink?
  35. If you were to design your own energy drink, which of the following components would you add (assuming none of these gets degraded during digestion): NAD+, NADH, Pyruvate, Acetyl-coA, CO2. Your answer will be different depending on how you are judging it: 1) which one has the most energy per carbon, 2) which one would make the most ATP per molecule, and 3) which one would require the least number of steps to make ATP. Explain why.
  36. Mountain climbers get in trouble when climbing at high altitude because there is less oxygen in the atmosphere as you go up in altitude. Would an energy drink help them improve their performance? Explain
  37. What if you were designing an energy drink exclusively for high altitude mountain climbers, which component would you add the most? NAD+, NADH, Pyruvate, Acetyl-coA, CO2. Explain why. What is the function of each of these components in cell respiration?
  38. If instead of making an energy drink, you come up with an energy injection, how would that affect the ingredients you put into the shot? Think in terms of polarity and tonicity.
  39. How do we lose weight? Where is the mass going?
  40. Some people think that you lose weight as heat or as sweat, explain why this is wrong even though we produce do heat and sweat with exercise.
  41. Some boxers and wrestlers dehydrate abruptly by spending time in a sauna and sweating a lot in order to lose weight and compete with a lower tier, however this is a serious health hazard, explain what happens to the tonicity of someone who does this.
  42. Why do we breathe? Which molecules do we breathe in, and what is the purpose? Which molecules do we breathe out, and where do they come from?
    Part E. COVID Vaccine Read this article on mRNA vaccines: https://www.nationalgeographic.com/science/2020/05/moderna-coronavirus-vaccine-how-it-works-cvd/
  • Links to an external site.
  • You are developing a new vaccine for COVID-19. You are deciding what to include in the solution (liquid) along with the vaccine, which will be injected intravenously (directly into the veins). You don’t want to harm the blood cells, so you know you need to use an isotonic solution to deliver the vaccine. What type of solution would you use (hypertonic, isotonic, hypotonic) and what types of solutes would you use?
  • What would happen to blood cells if a high solute (hypertonic) solution is injected intravenously? What if you use a hypotonic solution?
  • The latest COVID vaccines use mRNA, which is a large polar molecule. How can such molecule enter the cells? Why do mRNA vaccines use a lipid coat?
  • Read the article

Links to an external site. about mRNA vaccines and explain why are RNA vaccines faster to produce than other types of vaccines? https://www.nationalgeographic.com/science/2020/05/moderna-coronavirus-vaccine-how-it-works-cvd/

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