Bio37 - Introduction to Human Genetics PDF

Aim: How can we introduce Human Genetics? Do Now: Mindful Listening: One person is the speaker for 1 minute, while the other person is the listener. The speaker’s job is to discuss their response to the prompt. The listener’s job is to merely listen, without inserting any of their own thoughts or wo...

Aim: How can we introduce Human Genetics? Do Now: Mindful Listening: One person is the speaker for 1 minute, while the other person is the listener. The speaker’s job is to discuss their response to the prompt. The listener’s job is to merely listen, without inserting any of their own thoughts or wonderings. Once the 2 minutes are up, the listener has 1 minute to repeat back to the speaker what they heard. Again, this is done without inserting any of their own thoughts or feelings. Repeat this process for both parties until all prompts are completed. Be prepared to share your partner’s information! Prompt: Tell us something about your name. (ex: What is it? How did you get it? Are you named after someone? Google Classroom Code: fqclk35 Syllabus Units: 1. Introduction to Human Genetics 2. Genetics and Disease 3. Epigenetics 4. Reproductive Technologies 5. Ethical Issues in Genetics How do we respect ourselves while respecting others? As a class, how can we improve behaviors that build and nurture trust? How can we practice empathy in our listening and speaking? Write a Goal for yourself for this class around one of these questions. Examples of Goals: Listen more carefully to the ideas of others Ask for or provide clarification when necessary Add to an elaborate on a friend’s comments by asking questions that deepen the conversation Use evidence on the topic, to support answers and explanations Expectations: 1. Be on time. At 7:15 you are officially late. You are allowed 4 unexcused absences. 2. Participate! Be curious. Ask questions. Be inclusive and respectful. 3. Please, put your cell phone away. 4. Work is to be submitted on time. 5. Take Responsibility for your actions. DON’T WAIT UNTIL THE LAST MINUTE!! Unit Case Study/Review: Each unit will have one assignment, 5 total, you will be required to include at least one source from NovelNY for each one. These assignments will center around a case study or an ethical question, For example: Should a deaf couple be able to genetically engineer their baby to be congenitally deaf? These assignments will be worth 15% of your final grade. Unit Exam: Each unit will also have an exam that will be given in class. Each exam will be worth 10% of your final grade. DON’T WAIT UNTIL THE LAST MINUTE!! End of Semester Seminar: We will have an end of semester seminar during the last week of class. You will be responsible for crafting a well thought out ethical question relating to one of the topics we covered this year, participating in a group discussion and producing written research to support your claim. This seminar will be worth 25% of your final grade. Final Exam: The last week of class we will also have an in class final exam. This will be worth 20% of your final grade. Only medical documentation will warrant a makeup of this exam. OER - Open Education Resources Aim: How can we introduce Human Genetics? Do Now: Pair/Share: Would you pay for a genetic analysis like ancestry.com or 23andme? Why or why not? There are a few things you can do with this article: 1. Print it. 2. Download it as a PDF file to your Google Drive or OneDrive (It will be in a folder called General OneFile, all the articles you save will be there) 3. Email it to yourself for later. At the bottom of the article is the COMPLETE MLA Citation done for you. Source Citation (MLA 8th Edition) "The burning question; Climate change." The Economist, 26 Nov. 2016, p. 11(US). General OneFile, go.galegroup.com/ps/i.do?p=ITOF&sw=w&u=nysl_ca_dm vacces&v=2.1&id=GALE%7CA471317483&it=r&asid=4ff7f6ee1118 f43f1a51e1d6c92bd9cf. Accessed 31 Jan. 2017. This means you don’t have to worry about formatting it, or remembering the author or anything like that. It’s already done for you, in the correct format, ready to be pasted into your Works Cited page. Actively Read the article “Killing Obamacare could kill me” Pair/Share: Is $300,000 a year cost effective for a drug that is effective at treating Cystic Fibrosis for 97/1700 mutations? Why or why not? https://www.kalydeco.com/who-kalydeco#table Aim: How is genetic information maintained? Do Now: Pair/Share: Claim/Warrant: Your mother is a 3D printer. Claim/Warrant: you make a statement and provide evidence to support your claim. HW: Assignment #1 due 2/28/23 Exam #1 2/28/23 Success Criteria: I can describe how genetic information is maintained Think of one question that you have after watching the TED talk. How does the field of criminology change if we can 3D print faces from DNA samples? 46 chromosomes ~20,000 genes Recap: How is your mother similar and different from a 3D printer? Aim: How does DNA determine different proteins? Do Now: Pair/Share: What is cystic fibrosis? How many DNA letters are incorrect in this mutation? HW: Assignment #1 due 2/28/23 Exam #1 2/28/23 Success Criteria: I can describe how the information encoded in DNA specifies protein products. Central Dogma DNA → RNA → Protein Codon = 3 RNA base pairs make an amino acid Chains of amino acids make proteins Building blocks of proteins are amino acids! https://www.kalydeco.com/how-kalyd eco-works Is $300,000/year a fair price to charge for Kalydeco? How to cite sources: “In studies comparing ivacaftor treatment to modulator untreated comparator groups, clinical benefits similarly were reported as were decreases in mortality, organ-transplantation, and CF-related complications.” In studies where Kalydeco was used clinical participants had lower numbers of death, organ transplantation and complications related to cystic fibrosis as compared to the control group (Druckers et al. 2021). Duckers J, Lesher B, Thorat T, Lucas E, McGarry LJ, Chandarana K, De Iorio F. Real-World Outcomes of Ivacaftor Treatment in People with Cystic Fibrosis: A Systematic Review. J Clin Med. 2021 Apr 6;10(7):1527. doi: 10.3390/jcm10071527. PMID: 33917386; PMCID: PMC8038673. Summarize: How and why do we express different proteins? Aim: What are stem cells and why are they controversial? Do Now: Below is a chart to collect and store cord blood and cord tissue at delivery. If this were offered to your and your partner, would you pay for it? Why or why not? Success Criteria: I can state what stem cells are, how they function, and where they exist Stem cells and progenitor cells renew tissues so that as the body grows, or loses cells to apoptosis, injury, and disease, other cells are produced that take their places. Stem Cells can come from different sources: Embryonic Stem Cells: come from an embryo - these are pluripotent: they can become almost any other type of cell - they can also grow in culture indefinitely Somatic Stem Cells: from the body can make more of the same type of cell (lung cells make lung cells) Induced Pluripotent Cells (iPc): Discovered by Yamanaka in 2006, somatic cells can be reprogrammed (transcription factors) to become pluripotent again Aim: How do humans inherit traits? Do Now: Recap: Discuss: Should there be a Federal law banning or permitting therapeutic cloning in the United States? Why or why not? Therapeutic cloning involves creating a cloned embryo for the sole purpose of producing embryonic stem cells with the same DNA as the donor cell States with statutes specifically allowing therapeutic cloning ● ● ● ● ● California Missouri New Jersey Rhode Island Connecticut States with statutes specifically banning human reproductive and therapeutic cloning ● ● ● ● ● ● Arkansas Indiana Michigan North Dakota South Dakota Virginia Discuss: Should there be a Federal law banning or permitting therapeutic cloning in the United States? Why or why not? Diseases that can be treated with embryonic stem cells ● ● ● ● ● ● ● ● ● ● ● ● ● ● Acute leukemia Amegakaryocytosis or congenital thrombocytopenia Aplastic anemia or refractory anemia Chronic lymphocytic leukemia Familial erythrophagocytic lymphohistiocytosis Myelodysplastic syndrome or another myelodysplastic disorder Osteopetrosis Paroxysmal nocturnal hemoglobinuria Wiskott-Aldrich syndrome Amyloidosis Germ cell tumors (testicular cancer) Hodgkin lymphoma non-Hodgkin lymphoma multiple myeloma Recap: Where can stem cells be found and what functions do they have? Would you pay for cord blood storage? Why or why not? Success Criteria: I can understand the historical and current (modern) applications and approaches used in the field of human genetics I can describe how eye color is inherited. Homozygous: both alleles are identical Heterozygous: the alleles are different Dominant alleles use Capital letters Recessive alleles use lowercase letters Genotype: the genetic makeup of an organism (its alleles) Phenotype: what traits are expressed Some traits are inherited with one gene… Autosomal dominant: these traits occur every generation, you only need one copy of the allele to express the trait Ex: Huntington’s Disease Pair/Share: Would you want to know if you carried the gene for Huntington’s Disease? Some traits are inherited with one gene… Autosomal recessive: these traits can skip generations, two copies of the gene are necessary to express the trait. Ex: Cystic Fibrosis Actively Read: Don't It Make Your Brown Eyes Blue? Pair/Share: How did blue eyes evolve in the human population? Eye Color A single gene on chromosome 15, OCA2, confers eye color by controlling melanin synthesis. However, HERC2 controls the expression of OCA2 - so if HERC2 is recessive the person will express blue eyes Nuances in eye color (green, hazel, etc.) come from peaks and valleys in the back of the iris Summary Traits can be controlled by one (or two) genes however, that’s rarely the mode of inheritance. Tomorrow, we will look at traits that are controlled by more than one gene/allele Aim: How do humans inherit traits? Do Now: In this scene, Ned Stark concludes that Joffrey is not Robert Baratheon’s son. Do you agree with his conclusion? Why or why not? ? Success Criteria: I can explain how hair color and height are inherited. I can discuss human inheritance with confidence Some allele combinations are deadly AKA Tyrion Lannister Incomplete dominance: when the heterozygous phenotype is in between the dominant and recessive phenotype Codominance: if both alleles are expressed in a heterozygote Epistasis: where the expression of one gene is affected by the expression of one or more independently inherited genes. Hair color ranges across a wide spectrum of hues, from flaxen blond to coal black. Many genes other than MC1R play a role in determining shades of hair color by controlling levels of eumelanin and pheomelanin. Some of these genes, including ASIP, DTNBP1, GPR143, HPS3, KITLG, MLPH, MYO5A, MYO7A, OCA2, SLC45A2, SLC24A5, TYRP1, TYR, ERCC6, GNAS, HERC2, IRF4, OBSCN, SLC24A4, TPCN2, and MITF, are involved in the production of melanin in hair. But, even when we think we have hair color figured out, most people with MC1R variants actually have what color hair? Morgan, M.D., Pairo-Castineira, E., Rawlik, K. et al. Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. Nat Commun 9, 5271 (2018). https://doi.org/10.1038/s41467-018-07691-z In this scene, Ned Stark concludes that Joffrey is not Robert Baratheon’s son. Do you agree with his conclusion? Why or why not? ? Pleiotropy: when one gene influences two or more seemingly unrelated phenotypic traits. Polygenic: many genes affect one phenotypic trait Marfan syndrome is caused by a mutation in a gene called FBN1. The mutation limits the body’s ability to make proteins needed to build connective tissue. Height is a polygenic trait About 697 variants can cause around ~80% of the heritability of human height STC2 gene. Only 1 person in 1,000 carries one of these genetic variants, but those who do are 1-2 cm taller Environmental factors also play a role Wood, A., Esko, T., Yang, J. et al. Defining the role of common variation in the genomic and biological architecture of adult human height. Nat Genet 46, 1173–1186 (2014). https://doi.org/10.1038/ng.3097 Eirini Marouli et al. Rare and low-frequency coding variants alter human adult height. Nature, published online February 1, 2017; doi: 10.1038/nature21039 How are height and hair color different in their inheritance compared to eye color? Aim: What are holandric and maternal inheritance? Do Now: Is this child a male or a female? What evidence do you have to make this claim? What about this person? Discuss your findings with your table mates XX or XY? “Guevedoce” Y chromosome instructs your gonads to become testicles using the hormone dihydro-testosterone (DHT). This in turn transforms the tubercle into a penis. If you're female and you don't make dihydro-testosterone then your tubercle becomes a clitoris If deficient in an enzyme called 5-alpha-reductase, therefore the external penis and testes do not develop, they are internal At puberty, excess testosterone is produced and secondary sex characteristics are formed. The human X chromosome has more than 1,500 genes and is much larger than the Y chromosome, which has 231 protein- encoding genes SRY sex determining gene is on the Y chromosome Maternal Inheritance: from the mother Holandric Inheritance: from the father X- Linked Recessive Trait Females are rarely affected because they have two copies of the X chromosome Examples: Color Blindness Hemophilia X-linked Dominant Traits Males are more severely affected Examples: Rett Syndrome Hypertrichosis (of the ears is Y linked) Sex-limited trait affects a structure or function of the body that is present in only males or only females. Ex: Pre-eclampsia Sex-influenced trait an allele is dominant in one sex but recessive in the other. Ex: male pattern baldness Mitochondrial DNA Mitochondria have their own DNA and they are entirely inherited from the mother. Sperm cells do not contribute mitochondria, they all come from the egg cell Many mitochondrial mutations do not survive, because the eggs do not have enough energy to multiply into embryos Heteroplasmy: a mutation is in some mitochondrial DNA but not all Introduction to Human Genetics I Can Statements for Unit Exam 2/28/23 ● ● ● ● ● ● ● Understand the historical and current (modern) applications and approaches used in the field of human genetics. Be able to state what stem cells are, how they function, and where they exist Be able to describe how genetic information is maintained Describe how the information encoded in DNA specifies protein products. Describe how height, hair and eye color are inherited. Explain holandric and maternal inheritance, illustrating with an example for each. Be able to discuss human inheritance with confidence. Your exam will be 25 multiple choice questions and two extended response questions.