Genomics and Human Identity Grades 7-12

Lesson 1

Inspired by the museum exhibit Genome: Unlocking Life’s Code unlockinglifescode.org

Smithsonian National Museum of Natural History Genomics and Human Identity: Lesson 1 2 6 9 2 4 3 3 4 6 4 4 6 4 5 5 16 15 ......

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the Genomics and Human Identity lessons Identity and Human the Genomics ......

Activity 1 – Alike and Different: Trait Survey Trait and Different: Alike – 1 Activity Exploration and Different: DNA Alike – 2 Activity Glossary Materials and Handouts Materials Preparation Procedure Learning Objectives Learning Standards Generation Science Next Knowledge Prerequisite Introduction to Lesson 1 – Alike and Different Alike – 1 Lesson Introduction to Components Lesson Time Concepts Key Acknowledgments Table of Contents of Table Contents of Table About

Genomics and Human Identity: Introduction Genomics and Human Identity Lesson 1 – Alike and Different

About the Genomics and Human Identity Lessons

This is one of a series of inquiry-based lessons from the National Human Genome Research Institute inspired by the Smithsonian National Museum of Natural History exhibit Genome: Unlocking Life’s Code and the website http://unlockinglifescode.org. NHGRI prepared this educational resource to bring the genome research featured in the exhibit into high school classrooms and other venues. These lessons are developed collaboratively with educators, scientists, teachers, and students nationwide.

The lessons address the genetic concepts of inheritance and variation of traits by engaging students in the process and application of genomic research on human genetic variation, identity, and ancestry. Students participate in hands-on inquiry-based learning that emphasizes collecting data, analyzing and comparing data, and drawing conclusions. The lessons are guided by the Next Generation Science Standards and address the concepts of inheritance and variation of traits. Genomics and Human Identity is also designed to raise awareness of the career opportunities in genomics, emphasize the importance of multidisciplinary collaboration in driving discoveries in science, and address common misconceptions in genetics and genomics.

Introduction to Lesson 1 – Alike and Different

Lesson 1 is comprised of two activities where students explore how we are alike and different.

Activity 1 - The Trait Survey is based on a display in the Smithsonian Museum exhibit that examines characteristics/phenotypes we can see. Students consider how we are alike and how we are different when they determine to which one of 16 groups they belong based on the combination of four common traits (dimples, widow’s peak, attached earlobes, and tongue roll). A photo collage of museum visitors within these groups shows the collective diversity of others who share these traits. Statistical analysis allows students to compare the prevalence of each group in their classroom with the groups of museum visitors.

In Activity 2 – DNA Exploration, students examine single nucleotide differences between DNA sequences from two individuals to uncover the variation inside our cells at the molecular level.

Lesson Components • Teacher’s Guide – detailed description of lesson objectives, procedures, and materials needed • Student Handouts – these worksheets are included at the end of each lesson description in the teacher’s guide • PowerPoint Slides – Each lesson has a PowerPoint presentation to guide you and your students through the activities • Web – http://unlockinglifescode.org Teacher background information and supplementary activities for students are available online. However, none of the student lessons in this Teachers Guide requires computers or internet access.

3 Genomics and Human Identity: Lesson 1 4

Specifcally, the Specifcally,

human diversity. the result of and explain that the 0.5% genetic variation between individuals is Know single base due to mutations – deletions, insertions, sequence differences in their DNA short base sequences. pair differences, and numbers of repeated Recognize variation of phenotypes among humans and know that human genomes are of phenotypes among humans and variation Recognize 99.5% the same. from class mates and observe and discuss that some Collect and analyze phenotypic data than others in a given population. combinations of traits are more common differences in the genome of humans can explain sequence Discover how comparing DNA

may result from: distribution occurring and (1) variation the explain during to new probability and statistics replication, of genetic concepts Apply and/or HS-LS3-3: combinations (3) through mutations meiosis, caused of expressed traits in a population. (2) by viable environmental errors factors HS-LS3-1: Ask questions to clarify the relationships about the role of DNA and chromosomes and DNA of role the about relationships the clarify to questions Ask HS-LS3-1: in coding the instructions for characteristic LS3-2: traits Make passed and from defend parents a to claim offspringHS- based on evidence that inheritable genetic variation Engaging in Argument from Evidence Engaging in Thinking Using Mathematics and Computational Constructing Explanations and Designing Solutions Obtaining, Evaluating and Communicating Information Asking Questions and Defning Problems Analyzing and Interpreting Data genetic variation of individuals in a species due to mutation and sexual competition reproduction for (3) limited resources, and (4) the survive and reproduce in the environment. proliferation of those organisms able to HS-LS4-2: Construct an explanation based on evidence that the process of evolution primarily evolution of process the that evidence on based explanation an Construct HS-LS4-2: heritable the (2) number, in increase to species a for potential (1) factors: four from results • • • •

Science Practices: Core Idea: HS-LS4 Biological Evolution: Unity and Diversity Core Idea: HS-LS4 Biological Evolution: Variation of Traits” and HS-LS4 “Biological Evolution: Unity and Diversity.” Traits” of Variation expectations: lesson addresses these performance Traits of and Variation Core Idea: HS-LS3 Heredity: Inheritance Next Generation Science Standards Generation Science Next This lesson addresses the NGSS life science standards HS-LS3 “Heredity: Inheritance and Learning Objectives Objectives Learning this lesson, students will: After completing found that humans are The 99.5% level. 0.5% identical of at difference the in DNA human DNA of what makes us unique. sequences is part This lesson explores variation among humans – we share many traits (phenotypes), but have differences, too. This combination of traits is part of our identity. Genomic studies have This lesson is expected to take 45 to 60 minutes. is expected to This lesson Concepts Key Time Genomics and Human Identity: Lesson 1 5 1 copy per student 1 set per class 1 copy per student 1 copy per two students (optional) 1 copy per group

– Students may write down the name of the person who they feel are Ask students to estimate how genetically similar two humans are. Tell students that scientists that students Tell are. humans two similar genetically how estimate to students Ask tudents should know that we inherit our genetic traits from the DNA in the nucleus of the Note from Field Test most identical to them, so they don’t forget later in the activity. similarities. will think they who person/people the note quickly and room the around look to students Ask to? be in their group. That is, who in the room are they most “identical” 3. Tell students they will now do an activity to see how similar they are to one another through another one to are they similar how see to activity an do now will they students Tell 3. on based groups 16 of one into students put will inventory The traits. visible easily of survey a Students should note (or be guided to realize) identical to each other than to another random person. that family members are more genetically have found that humans are genetically 99.5% identical. than 99.5%. Ask students if some groups of people are even more genetically identical component of our identity. component of our identity. 2. Guide the students to recognizing that part of our identity comes from our environment; our culture defnes how we dress and how also comes we from parents through the that DNA we communicate inherit. These lessons focus on the and genetic behave. Part of who we are What defnes our identity? What makes us who we are? Which of inherited? these characteristics are different. Ask the class to identify some ways that people are alike and ways that they are different. Activity 1 – Alike and Different: Trait Survey Trait Alike and Different: Activity 1 – are we how and same the are we how explore to is lesson this of goal that studentsthe Tell 1. group number on the back and place them face down evenly around the room. group number on the back and place Procedure Preparation the Write 1-2. Handout in photos trait-group 16 the of each of copy possible) (if color one Print Handout 1-4: DNA Sequence Comparison Handout 1-4: DNA Key Sequence Comparison Handout 1-5: DNA Handout 1-2: Trait Mosaics (12 pages) Trait Handout 1-2: Results Survey Trait Handout 1-3: Smithsonian Lesson 1 PowerPoint Traits of Four Handout 1-1: Survey Materials and Handouts Materials S Prerequisite Knowledge Prerequisite combinations. Mutations are changes in DNA. changes in DNA. Mutations are combinations. egg and sperm of our parents. They should also that be our chromosomes familiar are made with up the of long structure stretches of of the four DNA DNA base and pairs in different Genomics and Human Identity: Lesson 1 6 to Handout 1-1 Survey of Four Traits Four of Survey 1-1 Handout and pass one copy of of copy one pass and Slide 1-1: Trait Inventory Trait 1-1: Slide tree down to assign themselves into one of the 16 groups based on their traits. Students may circle should student Each hairline. peaked a or earlobes attached have they if another one ask the group they fall into. With Handout 1-1 in front of them, have each student circle yes or no as they follow the question the follow they as no or yes circle student each have them, of front in 1-1 Handout With 4. Show Show 4. each student. Genomics and Human Identity: Lesson 1 7 should be spread evenly around the Handout 1-2 Trait Group Photos Trait Handout 1-2 Slide 1-2: Which Group Are You In? You Are Slide 1-2: Which Group Ask students to discuss their reactions to the photos in their groups. Ask students to make some observations about the photos. What they want people in their group. to know about Point out Point how the photos are ordered around the room. Have students get up and go to their group photo and turn it over. at the NationalSmithsonian’s Museum of Natural History in 2013, 293 visitors completed the same trait survey and a Rick professional Giudatti, photographer, took their pictures outside the museum. 6. One of each of the 16 opened exhibit Genome the When back. the on written number group the with down face room Have students record the results individually in the table on Handout 1-1 and write the results the write and 1-1 Handout on table the in individually results the record students Have on the board for all to see. raise their hands as you call out the group numbers. raise their hands as you call out the Ask students to look around the room and see if the person they thought was most identical group is that person in? to them is in their same group, What 5. Show students Have categories. sixteen the of each in are students many how see to class the Survey Genomics and Human Identity: Lesson 1 8 and Handout 1-3: Smithsonian Survey Trait Results and use these questions to prompt the class discussion. the to prompt questions use these and Slide 1-3: Trait Inventory Trait 1-3: Slide Slide 1-4: Smithsonian Survey Results Slide 1-4: Smithsonian Survey Results Show Show 7. Provide each student with a copy of show

Genomics and Human Identity: Lesson 1 9 http://omim.org/entry/128900

http://omim.org/entry/189300

http://omim.org/entry/126100

http://omim.org/entry/194000

Earlobes – attached versus unattached curling, folding, or rolling Tongue Note – The four traits just examined have a genetic component. While some of these of some While component. genetic a have examined just traits four The – Note simple so be not may story complete the recessive, or dominant considered are traits genetically. The Online Mendelian Inheritance in Man National Library of Medicine, has more details: database, part of the NIH Facial Dimples Hairline peak Group 3 was the smallest group from the Smithsonian visitors – was this the smallest for your class, too? the Smithsonian visitors and your class? Why are there differences between Group 14 was the most common in the Smithsonian visitors – was this also the most common most the also this was – visitors Smithsonian the in common most the was 14 Group in your class?

• • • DNA DNA we inherit from our parents. The next activity will look at variation between people at level. the DNA come from? Students should recognize that there is a genetic component to these traits that lies in the on things we can see. Ask why do different people have different combinations of traits? Where does this variation in your class. based different are we how and alike are we how considering students has activity trait This 9. a family history in the area surrounding your school. a family history in the area surrounding may wish You to point out to students that this activity uses simple mathematical analysis to compare variation between two populations – the visitors to the Smithsonian and the students Students should realize that the two sets of results are from very different populations. The the at attraction, tourist international an museum, the at be to happened visitors Smithsonian of more have may students Your another. one near live not do probably and survey the of time Discussion prompts – You may also want to record these answers on the board for all to see: also want to record these answers may You – Discussion prompts Have students write their answers to Handout 1-3’s question 2 and then discuss as a group: question 2 and then discuss their answers to Handout 1-3’s Have students write to the results from your class? do the Smithsonian data compare Ask students how 8. Ask 8. students to refer to the results of their classroom survey and write them down on the from the Smithsonian survey. on Handout 1-3, next to the results left-most column of traits between different groups. It does not necessarily mean that certain traits are dominant dominant are traits certain that mean necessarily not does It groups. different between traits of or recessive. Ask students why do some groups have many people, while others have only a few? have only a people, while others groups have many why do some Ask students frequency and inheritance of patterns to relate group each in people of numbers differing The Have students write their answers to Handout 1-3, Question 1 and then discuss as a group: as then discuss 1 and Question 1-3, to Handout answers write their students Have Genomics and Human Identity: Lesson 1 10 from the Lesson 1 PowerPoint 1 PowerPoint from the Lesson Slide 1-5: Genetics and Human Identity Slide 1-5: Genetics The responses to these questions will allow you to gauge what the students already know and identify any misconceptions that they have about genetics variation between two people. focus on the DNA and identity. Students will now Ask students what is genetics and how does it help us understand who we are? Ask students what is genetics and sequences. Activity 2 focuses on the variation inside our cells at the DNA sequence level. sequence cells at the DNA inside our focuses on the variation Activity 2 sequences. 2. Show Activity 2 – Alike and Different: DNA Exploration DNA Different: Alike and 2 – Activity 1. Remind students that the previous activity focused on human variation that There we is can a see. genetic component that underlies these phenotypes based on differences in DNA Genomics and Human Identity: Lesson 1 11 Slide 1-6: DNA Sequence Analysis. Sequence DNA Slide 1-6: Show Ask students to start at top left of sequence, like they are reading words, reading are they like sequence, of left top at start to students Ask and scan across hunting for differences. A and Person B. Students should highlight the differences on handout 1-4. B. Students should highlight the differences on handout and Person A Test: Field from Tip Give the teams three minutes to fnd as many sequence differences as they can between Person Person between can they as differences sequence many as fnd to minutes three teams the Give 3. Students will work in pairs or Give groups each of group three one for copy this of activity. Sequence Comparison. 1-4: DNA Handout Genomics and Human Identity: Lesson 1 12 DNA DNA and the action of The sequence shown is a short stretch short a is shown sequence The Where do these differences come from? mistakes in replication DNA Slide 1-7: there are fve single changes between Sequences A and B. Note B. and A Sequences between changes single fve are there students may also notice that there are short repeated sequences repeated short are there that notice also may students inherited from our parents. our from inherited (mutagens). In some cases, accumulation of deleterious mutations leads to that points out the variations. Distributing this to the students is optional. that points out the variations. Distributing The short sequence TCTG is inserted into B at position 345 The short sequence Sequence B is missing 20 nucleotides that are in A Sequence B is missing 20 nucleotides that are in Slide1-7: DNA Sequence Analysis. Sequence DNA Slide1-7: Deletion: Repeats: Tandem B Short in times 8 only and A in times 15 repeated is TCTA example, For Repeats. Tandem Short or individual and another. These changes are spread all over our chromosomes. Most have no individual and another. other genes. effect on us since they are in regions that do no encode proteins or regulate Insertion: Single Nucleotide Changes: Nucleotide Single genome human the in pairs base billion 3 the among that found have studies genomic that there as many as 10 to 15 million base pair single nucleotide differences between one

Handout 1-5 Ask students the second question on • • • • loss of cell function and/or uncontrolled cell growth, i.e., cancer. loss of cell function and/or uncontrolled cell growth, i.e., cancer. Students should end this activity by recognizing that there is variation in the DNA sequences Our genetic sequence is also affected by damaging agents from one copy and of A B chromosome have 1. two Person copies of chromosome 1, one from the mother and the other one from the There father. will likely be variation between these copies, too. 5. are DNA in variations Most The students should note the following differences between the sequences: The students should note the following Ask students what differences (variations) they noticed between Person A and Person B. Refer B. Refer and Ask Person students what A differences (variations) they noticed between Person to 4. Show 4. Show Genomics and Human Identity: Lesson 1 13

http://unlockinglifescode.org/human-genome-project Online Resource – Interactive Timeline of the Human Genome Timeline – Interactive Online Resource Slide 1-8: The Human Genome Project The Human Genome Slide 1-8: areas that do not encode proteins. compare the complete DNA sequences between two random people, there will be approximately be will there people, random two between sequences DNA complete the compare 15 million differences pairs – or one difference in every 200 base pairs. In other words, 2.985 in usually chromosomes, the across all are variations These same. the be will pairs base billion A comparison of all of these sequences fnds that humans are 99.5% genetically identical. If you If identical. genetically 99.5% are humans that fnds sequences these of all of comparison A sought to sequence the 3 billion base pairs across our 23 chromosomes of one genome. This task was started in 1990 and completed in 2003. Since then, over 2,000 individuals have had their genomes sequenced. Note to students that they just scanned a few hundred nucleotides of DNA for differences. Our differences. for DNA of nucleotides hundred few a scanned just they that students to Note Project Genome Human The DNA. of pairs nucleotide billion 3 of up made is however, genome, 6. Show each have a unique DNA sequence, we inherit most of our variation from our families. Our DNA DNA Our families. our from variation our of most inherit we sequence, DNA unique a have each have We father. and mother our as such members, family near to identical most are sequences such cousins. extended relatives, variation between slightly more inside our cells. A person will have less DNA variation differences with people that are closely are that people with differences variation DNA less have will person A cells. our inside related and more DNA variation differences with people who are not related. Although we Genomics and Human Identity: Lesson 1 14 Slide 1-9: Lessons from the Human Genome Sequence Genome the Human from 1-9: Lessons Slide Students will focus on variation in these regions in the next two lessons. Students will focus on variation in these regions in the next two lessons. Only 2% of the genome looks like it contains instructions for encoding proteins. Only 2% of the genome looks like it contains instructions for encoding expression gene regulating as such function, other some has it like looks genome the of 80% is folded. or affecting how DNA Of the 0.5% variation between individuals, there are 10 to 15 polymorphisms. million single These nucleotide variants are most likely in non-coding regions of the genome. There are 20,000 to 25,000 potential This genes. is far fewer than the 100,000 estimated in 1993. at the start of the Human Genome Project

• • • • 6. End the lesson by telling students that the variation is in part our of DNA what defnes who related. are we closely how tell also can scientists people, between DNA comparing By are. we further. identity human and DNA between connection the explore series this in lessons next The everything does. You may wish to everything point does. out You to your students the current understanding of our genome: to be uncovered. There is a common misconception that the sequencing of the human genome told us what The sequencing of the human genome and subsequent comparisons between individual genomes individual between comparisons subsequent and genome human the of sequencing The needs that more lot a is there but – does DNA out what of idea general a with scientists provides 5. Show 5. Show Genomics and Human Identity: Lesson 1 15

Single nucleotide polymorphisms (SNPs) are a type

A tandem repeat is a sequence of two or more DNA base pairs that DNA sequencing is a laboratory technique used to determine the exact A nucleotide is the basic building block of nucleic acids. RNA and DNA are polymers are DNA and RNA acids. nucleic of block building basic the is nucleotide A A phenotype is an individual’s observable traits, such as height, eye color, and A A genotype is an individual’s collection of genes. The term also can refer to the A base pair is two chemical bases bonded to one another forming a “rung of the DNA DNA the of “rung a forming another one to bonded bases chemical two is pair base A A A mutation is a change in a DNA sequence. Mutations can result from DNA copying Insertion is a type of mutation involving the addition of genetic material. An insertion An material. genetic of addition the involving mutation of type a is Insertion Deletion is a type of mutation involving the loss of genetic material. It can be small, be can It material. genetic of loss the involving mutation of type a is Deletion The genome is the entire set of genetic instructions found in a cell. In humans, the - For more terms, see the Talking Glossary of Genetic Terms, of Genetic Glossary Talking the see more terms, - For of polymorphism involving variation of a single base Scientists pair. with correlate are genome human the in studying “snips”), (pronounced SNPs or how polymorphisms, nucleotide single disease, drug response, and other phenotypes. DNA fngerprinting procedures. DNA Single Nucleotide Change/Polymorphism: Short Tandem Repeat: is repeated in such a way that the repeats lie number the instances, some In DNA. non-coding with associated generally are repeats adjacent Tandem to each other on the chromosome. of times the sequence DNA is repeated is variable. Such variable tandem repeats are used in largely determined by the genotype, while other traits are largely determined by environmental by determined largely are traits other while genotype, the by determined largely factors. uracil (U) takes the place of thymine. Phenotype: are traits the genotype. Some called phenotype the genetic is contribution to The type. blood made of long chains of nucleotides. A nucleotide consists of a sugar molecule (either ribose A in made of long chains of nucleotides. The base. nitrogen-containing a and group phosphate a to attached DNA) in deoxyribose or RNA base the RNA, In (T). thymine and (G), guanine (C), cytosine (A), adenine are DNA in used bases be passed on to offspring, while somatic mutations occur in body cells and are not passed on. be passed on to offspring, while somatic Nucleotide: Mutation: called chemicals to exposure radiation, ionizing to exposure division, cell during made mistakes mutagens, or infection by viruses. Germ line mutations occur in the eggs and sperm and can Insertion: mutation can be small, involving a or single large, extra involving base DNA a pair, piece of a chromosome. encoded in is the used DNA genes’ to make protein molecules. The and expression RNA of the observable traits, called the phenotype. genotype contributes to the individual’s billion bases of DNA sequence. billion bases of DNA Genotype: two alleles inherited for a particular gene. The genotype is expressed when the information genome consists of 23 pairs of chromosomes, found in the nucleus, as well as a small chromosome small a as well as Genome: nucleus, the in found chromosomes, of pairs 23 of consists genome found in the cells’ mitochondria. Each set of 23 chromosomes contains approximately 3.1 information a cell needs to assemble protein and RNA molecules. DNA sequence information is information sequence DNA molecules. RNA and protein assemble to needs cell a information sequencing DNA of technology The genes. of functions the investigating scientists to important as a part of the Human Genome Project. was made faster and less expensive DNA DNA Sequencing: sequence of bases (A, C, G, and T) in a DNA molecule. The DNA base sequence carries the adenine forming a base pair with thymine, and cytosine forming a base pair with guanine. base pair with thymine, and cytosine adenine forming a Deletion: involving a piece of a chromosome. or large, base pair, missing DNA involving a single ladder. Each ladder. strand has a backbone made of alternating sugar (deoxyribose) and bases--adeninefour cytosine (A), of (C), guanine one Attachedis (G), or each sugar to groups. phosphate thymine (T). The two strands are held together by hydrogen bonds between the bases, with Base Pair: Base molecule consists The of DNA two strands that wind around each other ladder.” like a twisted Glossary http://www.genome.gov/Glossary/ Genomics and Human Identity: Lesson 1 16

Genetic variation refers to diversity in gene frequencies. Genetic variation can refer can variation Genetic frequencies. gene in diversity to refers variation Genetic A trait is A a can specifc be characteristic determined of by an genes organism. Traits or Foundations Academy Foundations Jite Lark Ahmed Mansur Benjamin Banneker Academy for Community Development Benjamin Banneker Nicole Moore Titley Edwin The Brooklyn School for Math and Research The Brooklyn School for Math and Paramananda Padma Clifford Daniels Delroy Burnett Deslyn Dover School Medgar Evers College Preparatory Albert Stoddart William Bailey William Science Skills Center High School Rick Giudotti Entry Program Technology Medgar Evers College Science and John Brown Pat Phelps Pat Exposures Positive Doris Withers Doris Withers History National Museum of Natural Medgar Evers College, CUNY The Hastings Center Dave Vannier Lesson Plan 1. Promega Corporation Acknowledgements Identity Human and Genomics of development the in involved those thank to like would NHGRI to differences between individuals or to differences ultimate between source genetic of variation, but mechanisms such as sexual reproduction and genetic populations. Mutation is the it as well. drift contribute to a trait is called the genotype. The outward expression of the genotype is called the phenotype. the called is genotype the of expression outward The genotype. the called is trait a Variation: Trait: to contribution genetic The them. between interactions by commonly more or environment, the