Honors Project 2: The Human Variation Project Due: 3/21

1. Honors Project 2: The Human Variation Project Due: 3/21

2. Eastern hognose snake, Heterodon platirhinos Virginia opossum, Didelphis virginiana How might traits, like ‘playing dead,’ first evolve? Fainting Goats - http://www.youtube.com/watch?v=we9_CdNPuJg

3. Procedure: Human Variation Project Background: As Gregor Mendel demonstrated with his studies of pea plants, organisms can vary widely in a range of traits. Humans also show a variety of characteristics in height and in the color of their hair, skin and eyes. Sometimes differences among individuals can be striking: people who have jagged, piercing teeth, footlong necks, or fur that covers their body. But these phenotypic features are not always the result of genes; environment can also be a critical factor. People vary widely in heritable traits Outline of Your Task: 1) Sort through the human traits on the following pages. Identify two inherited traits and two non-inherited traits. 2) Create a PowerPoint presentation (read details and find an example on proceeding slides). 3) Evolve a new type of human (refer to upcoming description and example).

4. Step #1: Human Variants Directions: Explore the following range of traits among people. Can you identify which characteristics are hereditary and which are not?

5. Mutant Muscle Bigger muscles, faster whippet - http://www.thetech.org/genetics/news.php?id=56 Myostatin & Muscle Growth – http://videos.howstuffworks.com/sciencentral/2698-myostatin-and-musclegrowth-video.htm Genetic mutation turns tot into superboy - http://www.msnbc.msn.com/id/5278028/ Questions: 1) Describe the genetic difference between a whippet and a bully whippet dog. Explain how mutations caused this difference. 2) A baby boy from Germany was discovered to have a mutation that blocks the regulation of a gene that limits muscle growth. How did this mutation effect him? Are there clues this gene was inherited? Explain.

6. Tree Man Cause of Treeman’s Barklike Growth - http://www.cnn.com/2008/HEALTH/conditions/10/02/treeman.wart.skin.disorder/index.html Bark-like skin – http://abcnews.go.com/Health/MedicalMysteries/story?id=5535375&page=1 ‘Branches’ Begin to Regrow - http://www.foxnews.com/story/0,2933,580533,00.html Questions: 1) What is Keratin? How might a virus infection like HPV cause a gene to make too much keratin? 2) HPV infected Dede Kosawa’s the somatic cells, such as his skin. Is it possible for him to pass on this trait if he were to have more children?

7. Brown Eyes Blue Genetic mutation makes those brown eyes blue - http://www.msnbc.msn.com/id/22934464/wid/11915773 Ancestor of blue eyes – http://www.sciencedaily.com/releases/2008/01/080130170343.htm Blue eyes result of ancient genetic 'mutation' - http://www.telegraph.co.uk/science/science-news/3323607/Blue-eyes-result-ofancient-genetic-mutation.html Questions: 1) How did scientists trace the origin of all people with blue eyes to a common ancestor whom lived between 6,000 – 10,000 years ago? 2) Define sexual selection. How is it different from natural selection? Speculate on how sexual selection might have caused blue eyes to become common among some racial groups.

8. Fewer is Wiser Are people without wisdom teeth more highly evolved? - http://health.howstuffworks.com/humanbody/parts/no-wisdom-teeth.htm/printable The Evolution of Cooking: A Talk With Richard Wrangham – http://www.edge.org/3rd_culture/wrangham/wrangham_index.html Troubles with Human Wisdom Teeth - http://www.sciencedaily.com/releases/2007/09/070926172246.htm Questions: 1) Listen to the interview with Harvard anthropologist, Richard Wrangham. How could have cooking changed the evolution of the human jaw? Explain the reasoning of this hypothesis. 2) Refer the photo on the right. Compare the jaw of the chimpanzee (left) to that of the human (right). Which jaw is shorter? Do they have the same number of teeth? How might a change in jaw length cause wisdom teeth to become a vestigial trait?

9. Sight for Smell Primates Trade Smell for Sight - http://www.primates.com/misc/smell-sight.html Evolution smell & vision in primates - http://www.plosbiology.org/article/info:doi%2F10.1371%2Fjournal.pbio.0020033 The Real Life of Pseudogenes – http://papers.gersteinlab.org/eprint/sciam2/reprint.pdf • Questions: • Compared to other mammals humans have a poor sense of smell. In contrast, people, apes, and most Old World Monkeys are trichomatic (can see blues, greens, and reds). Use the provided website links to explain how and why this shift between our senses may have occurred. • 2) Define what a pseudogene is. Describe the olfactory receptor (OR) pseudogenes in people. How might OR pseudogenes provide evidence for human ancestors evolving sight over smell.

10. Pseudogenes & Vitamin C What genes did we lose to become human? - http://adaptivecomplexity.blogspot.com/2008/01/what-genes-did-we-lose-to-become-human.html Human GULOP pseudogene - http://sandwalk.blogspot.com/2007/02/humangulop-pseugogene.html Scurvy - http://www.limestrong.com/scurvy.htm • Questions: • What is scurvy? How does a lack of ascorbic acid (vitamin C) cause this disease? • 2) If humans don’t eat citrus fruits or vegetables with vitamin C, we develop scurvy. • However, people have a ‘broken’ gene for making this vitamin. For instance, cats • have a working vitamin C gene and synthesize it as part of their metabolism - so • they don’t need to eat oranges or limes. Explain why humans have this pseudogene.

11. Apendixless Your Appendix - http://www.health24.com/Man/Cm_x_Cm/748-3216-3219-3227,34811.asp Vestigial features – http://txtwriter.com/Backgrounders/Evolution/EVpage12.html The vestigiality of the human appendix - http://www.talkorigins.org/faqs/vestiges/appendix.html Questions: 1) What is the appendix? Can you live without it? Out of every 100,000 people, how many are estimated to be born without an appendix? 2) What is a cecum? How is the cecum important to herbivores and some omnivores? Describe how the human vermiform appendix and the cecum are homologous structures. What makes it also a vestigial structure?

12. Entwined Senses Synesthesia - http://faculty.washington.edu/chudler/syne.html Hearing colors - http://www.school-forchampions.com/senses/synesthesia.htm It’s a beautiful day - http://www.synspectrum.com/synesthesia.html Questions: 1) What is synesthesia? Describe how people with this trait perceive the world differently than a typical person. 2) Might this be an inherited trait? If so, describe how it might be passed on from generation to generation. Might synthesthesia be a derived trait compared to those people who don’t share this ability?

13. Skin Selection The Biology of Skin Color: Black and White - http://www.pbs.org/wgbh/evolution/library/07/3/text_pop/l_073_04.html UV Light, Vitamin D3, and Folate influence on Skin Pigmentation - http://www.suite101.com/content/uv-light-vitamin-d3-andfolate-influence-on-skinpigmentation-a252619 Folate & Fertility & Skin Color - http://blogs.discovermagazine.com/gnxp/2009/04/folatefertility-skin-color/ Questions: 1) Why is vitamin D important for people? How does sunlight help us make it? What is folate and why is it important for pregnancy? 2) How can skin color be understood in the context of vitamin D and folate? Next, use the concept of natural selection to explain why different races of people have darker or lighter skin.

14. Blue Skinned The Blue People of Troublesome Creek – http://www.indiana.edu/~oso/lessons/Blues/TheBlues.htm The Blue People of Troublesome Creek KY – http://scienceray.com/biology/human-biology/theblue-people-of-troublesome-creek-ky/ Those Old Kentucky Blues - http://www.sciencecases.org/blue_people/blue_people.pdf • Questions: • Can you determine if “blueness” is a heritable condition? If so, what might be the specific genetic pattern of inheritance? • 2) Explain how geographic isolation may have influenced the prevalence of the • blue-skinned trait among the people of Troublesome Creek.

15. Show Some Skin Human Hairless Gene - http://www.keratin.com/aa/aa003.shtml Atrichia in people - http://www.springerlink.com/content/upu6mg2wb62j83x5/ Sphynx cat - http://www.cfainc.org/breeds/profiles/sphynx.html • Questions: • How did the “hairless” gene (hr) in mice help researchers locate a homologous gene in humans? • 2) Follow the link – “Atricia in people” to read the abstract by Zlotogorski, Ahmad, and Christiano. Notice how they report that a deletion in an exon caused a frameshift mutation. Explain what this means and why it could result in hairlessness.

16. Albinism Evolution in Black & White - http://www.smithsonianmag.com/science-nature/Evolution-in-Black-and-white.html?c=y&page=2 Albino cavefish – http://www.sciencedaily.com/releases/2005/12/051220000639.htm What causes albinism? - http://www.scientificamerican.com/article.cfm?id=killing-albinostanzania-albinism Questions: 1) Albinos in certain regions of the world, such as in East Africa, may face discrimination and physical abuse by other people. However, in some species, such as many cave-dwelling animals, albinism is the norm. Describe a species that natural selection has favored a lack of pigment. 2) One form of albinism is caused by a mutated pigmentation gene called OCA2. This mutation effects tyrosine. How could a mutation result in the loss of this amino acid? What pigment does tyrosine normally get converted into which albinos lack?

17. Out of Thin Air Mutation in key gene - http://www.guardian.co.uk/science/2010/jul/02/mutation-gene-tibetans-altitude Tibetans adapted to high altitude - http://berkeley.edu/news/media/releases/2010/07/01_tibetan_genome.shtml Scientists uncover the genetic secrets - http://www.eurekalert.org/pub_releases/2010-06/nesc-sut060510.php • Questions: • On the Tibetan plateau there is 40% less O2 than at sea level. How did a change in the EPAS1 gene offer greater biological fitness to those Tibetans possessing this mutation? • 2) Describe how the process of natural selection helped Tibetans adapt to this harsher, lower oxygen environment.

18. Speedy Genes What makes the perfect marathon runner - http://www.telegraph.co.uk/sport/othersports/athletics/london-marathon/5192764/London-Marathon-2009-what-makes-the-perfect-marathon-runner.html Potential Use of Gene Transfer - http://www.nature.com/mt/journal/v15/n10/full/6300278a.html Fear of gene doping - http://www.msnbc.msn.com/id/10628586/ Questions: 1) Describe how mutations and other changes in the ACTN3 and EPO genes can naturally enhance an athlete’s performance. 2) Researchers have mutated PPAR-delta and PEPCK-Cmus genes in mice. Do you think these and naturally occurring mutations in people may one day lead to gene doping? Explain.

19. Gigantism Gigantism - http://endocrinedisorders.health-cares.net/gigantism.php Giants - Part 1 - Pituitary Gigantism and Acromegaly - http://www.youtube.com/watch?v=Ebhf1qKVA9A The Science and Spirit of Giants and Dwarfs - http://abcnews.go.com/2020/story?id=3404733&page=2 • Questions: • Giagantism is typically caused by a benign tumor on the pituitary gland. Because the pituitary gland is comprised of somatic cells, will a person with this trait pass it on to their offspring? • What hormone does the pituitary gland secrete that causes gigantism? Besides being tall, what other features do they usually have.

20. Human Horns Cutaneous horn - http://www.skinsight.com/adult/cutaneousHorn.htm Cutaneous horn – http://emedicine.medscape.com/article/1056568-overview Giant Cutaneous Horn - http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2763752/ • Questions: • Cutaneous horns typically grow on the sun-exposed areas of people that are fifty years or older. Skin, made of somatic cells, may accumulate mutations from repeated sunburns. Would children likely inherit these horns from an older man that had sons and daughters late in life? Explain. • 2) What protein makes-up the cutaneous horns. How are cutaneous horns similar in composition to a rhino’s horn?

21. Xtra Flexx Human Mutations: Bone Mutation - http://www.youtube.com/watch?v=vtW3dMZLrtE&NR=1 Floating Forelimbs and Clavicles – http://www.askabiologist.org.uk/answers/viewtopic.php?id=3590 No bones about it: Gene vital to skeleton - http://www.sciencenews.org/pages/pdfs/data/1997/151-23/15123-05.pdf • Questions: • In the 19th Century, a sailor came to the Cape Verde Islands. The man had a rare mutation on a gene called Cbfa1 that disrupts normal bone development. He had seven wives & now about a thousand of his descendants inherited a trait that reduces the clavicles (collarbones). Describe how this is an example of the founder effect. • Cats, dogs, and other fast-running four-legged animals have reduced clavicles, similar to some people from the Cape Verde Islands. Explain how a more flexible shoulder might be a useful adaptation.

22. The Spectrum of Aging Girl Who Doesn't Age 'Infant' of Family - http://www.youtube.com/watch?v=GpVFWR7ay90&feature=fvw Progeria Baby - NJN News Health watch Report - http://www.youtube.com/watch?v=C_0gPI7qTgc Anti-Aging Secrets in Girl's Genes? - http://news.discovery.com/human/brookegreenberg-anti-aging-genetics.html John Tacket is 15 years old • Questions: • People with Brooke Greenberg’s condition and those with progeria may not pass on their mutations to offspring. However, might scientists one day learn to change the rate by which we get older by learning from how these mutations alter the aging spectrum? Explain. • 2) What are “centenarians?” Are they genetically different from the average person? Might these genes be inherited?

23. Webbed Feet and Hands Syndactyly – http://emedicine.medscape.com/article/1244420-overview Apoptosis - http://www.biologydaily.com/biology/Apoptosis Cell Death and the Formation of Digits and Joints - http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=dbio&part=A3972 • Questions: • How does the process of “apoptosis” or programmed cell death provide an explanation for how fingers and toes form, or do not clearly form. • 2) Look at the anatomy of a duck’s foot. How does its structure relate to how it functions? Among a group of “normal-toed” birds that have feet resembling those of the chicken, how might mutations (that code for programmed cell death) and natural selection enable birds with mutated feet to occupy a new niche?

24. A Piercing Bite Tooth Filing – http://www.ask.com/wiki/Tooth_filing Season for Tooth Filing - http://www.indo.com/indonesia/news74.html National Geographic: Taboos - http://channel.nationalgeographic.com/series/taboo/1851/Photos#tab-Photos/0 Rank & dominance displays - http://www.chimpanzoo.org/african_notecards/chapter_10.html • Questions: • Certain anatomical alterations such as putting collagen into the lips, silicon into breasts, and tooth filing require a trained participant. Individuals hoping for fuller lips and enlarged breasts are not so different from those that desire pointed teeth. Explain how such modifications could advertise a higher social status. • 2) The chimpanzee, our closest living animal relative, demonstrate rank through aggressive displays. Compare and contrast how human and male chimps demonstrate their ranking.

25. Got Lactase? Lactose Intolerance - http://www.gicare.com/pated/ecdgs24.htm Lactose Tolerance in Humans - http://www.scientificamerican.com/article.cfm?id=lactose-toleraence Got Lactase (Understanding Evolution) - http://evolution.berkeley.edu/evolibrary/news/070401_lactose • Questions: • All mammals drink milk when they are young but this behavior typically stops by adolescence. Digestion of milk requires the enzyme lactase which breaks down the sugar lactose in milk. Most adult mammals stop making lactase by this point. How did this mutation influence the diet of those people who inherited this trait? • Describe, through the process of natural selection, how the lactase gene was favored in some societies.

26. Step #2 • Create a PowerPoint presentation of two inherited and two • non-inherited traits after you have researched them. • Your Specific Tasks: • For each inherited and non-inherited trait, create a PowerPoint slide that describes how the trait is acquired, its possible genetic characteristics (recessive, dominant, X-linked, etc. and what chromosomes it might have been found on). Finally describe if certain populations (races, genders, etc.) are more prone to getting such a characteristic or if it occurs across all human groups. • 2) Include a picture of a person whom shows the characteristic or an image of the trait (examples: effected blood cells, receptor proteins, etc.). • 3) Answer the question(s) posted for each trait. Re-copy the question and answer it, as shown in the example. • 4) Include a reference section of the websites used in your research (website name, url, and date and time you last visited it). • See next slide for an example of a PowerPoint slide

27. Congenital Generalized Hypertrichosis Example: - Congenital Generalized Hypertrichosis (CGH) a.k.a. “Werewolf syndrome” is an X-linked, dominant allele. • Forty confirmed cases of CGH occur today in populations in Europe, North America, and Asia. CGH has been reported since the Middle Ages. • - CGH may be an atavistic trait – the re-emergence of • an evolutionarily ancient characteristic that is normally • suppressed. Danny Ramos Gomez Questions & Answers In certain environments, how might CGH be an adaptation? Support your answer with examples of ‘furry’ species of rhinos and elephants in nature. During the last Ice Age, woolly rhinos and mammoths lived in Eurasia. Their fur was likely an adaptation to the cold, windy steppes in which they lived. Natural selection might favor people with CGH if humans were to live in a similar environment for many generations. Real-Life ‘Werewolves’ - http://abcnews.go.com/Primetime/story?id=2258069&page=1 10/23/2010 7 PM References: Modern 'Wolfmen' May Have Inherited Ancient Gene – 10/23/2010 8 PM http://www.nytimes.com/1995/05/31/us/modern-wolfmen-may-have-inherited-ancient-gene.html

28. Step # 3: Your Task: Imagine a culture where a trait might be favored through sexual selection or by natural selection such as climate. Choose four inherited traits from this project (two can be those you researched for parts 1 & 2). Combining these features, draw them so they are adapted to this new cultural or natural environment. Scan pix into project. Example: The Azuls live on a nearly submerged planet. Descended from people that settled this marine world in the outer galaxy, these humans are well adapted to an ocean-dwelling lifestyle. Mates with the bluest eyes are highly sought after. Scanned Student Drawing Here! Visualize a hairless, powerfully built, blue-skinned person with piercing, blue eyes, webbed hands and feet. Could such a human ever exist? The traits depicted (on right) represent characteristics In the future human (left).

29. Grading Criteria of PowerPoint Presentation 40 = Excellent 35 = Good 30 = Fair 25 = Poor 0 = Not Acceptable • Presentation of Traits: (out of 80 points): • Two inherited traits - Research: genetics, populations effected, etc. • One image per trait (one pix should be original). • Questions answered accurately & thoroughly. • References (website name, url, date/time last visited). • Two non-inherited traits - Research: acquisition of trait, populations effected. • One image per trait (one pix should be original). • Questions answered accurately & thoroughly. • References (website name, url, date/time last visited). ___ ___ 20 = Excellent 15 = Good 10 = Fair 5 = Poor 0 = Not Acceptable 2) Evolve a new type of human: (out of 20 points) Combined 4 inherited traits from project to “breed” a new type of human. Includes a scanned-in picture of person & an explanation of their adaptations.  Drawing shows detail and effort.  Adaptations are explained in the context of cultural and/or natural selection.  Image or explanation is creative and original. ___ Total:___ Note: Be careful that all writing is in your OWN WORDS. Do not simply “cut & paste” information. Plagiarized material will result in a failing grade and disciplinary action.