Title of Unit s8

National Academies Northstar Institute for Undergraduate Education in Biology Teachable Unit Framework Title of Unit X-inactivation Date and Approach for Unit Development Unit Developers & Contact Donald Auger, South Dakota State University Information Brenda Leady, University of Toledo Douglas Leaman, University of Toledo Martha Lundell, University of Texas at San Antonio Lynn Riley, University of South Dakota Alyson Zeamer, University of Texas at San Antonio 1 lecture for a sophomore level genetics course. The expectation is this class meets in an active learning classroom, regularly work in groups, and routinely use clickers. This Context activity is set late in the semester after the students have discussed Mendelian genetics and the basics of gene regulation. They should already have some understanding of aneuploidy. Abstract At this point in the semester, students in this sophomore level “Molecular Genetics” course will have covered topics related to sex determination (XY Chromosome) and basic gene regulation (positive and negative transcriptional regulation by transcription factors). Students will read material before class that will help them brush up on sex determination in mammals and other organisms, dosage compensation and the concept of X-inactivation. A mini lecture will cover Mary Lyon’s discovery of X-inactivation and information on Klinefelter’s syndrome. The students will then perform an in class activity in which they hypothesize why there are phenotypes associated with this disease, make predictions about gene dosage, and compare their predictions to published data. Unit incorporates active learning principles including formative and summative assessment, group work, active learning. The unit was designed to be inclusive (variety of modalities, sensitivity to red-green colorblindness) and diverse (women in science, range of human phenotypes). Learning Goals & Goal(s): what students will know, Desired Outcome(s)/Objectives(s): Outcomes/Objectives understand, and be able to do; includes specific student behaviors or performances content knowledge, attitudes, & skills that will indicate they have successfully (i.e. “understand natural selection;” accomplished the goal(s) “appreciate the role of biology in society;” “think like a scientist” Understand the relevance of X- Explain why neither XX or XY results in a inactivation gene dosage disorder

Suggest why sex chromosome aneuploidy causes abnormal phenotypes Enhanced understanding of gene dosage. Predict differences in expression with and without X-inactivation Be able to interpret and analyze data. Interpret graphs from the literature and draw conclusions Be able to work collaboratively. Work as a team to generate hypotheses and predictions

Incorporation of Scientific Teaching Themes National Academies Northstar Institute for Undergraduate Education in Biology Teachable Unit Framework Active Learning Assessment Diversity How students will engage actively in learning the How teachers will measure How the unit is designed to concepts learning; how students will include all participants self-evaluate learning

Activities outside of class: Pre-assessments: Reading assignment  RLQ quiz o Featured women in science (formative) o Diversity of Human Activities in class: phenotypes RLQ quiz – individual + group During tidbit: o Variety of Bloom’s level Mini Lecture  Hypotheses; o Individual and group class  Dosage Compensation comparison of data work  Mary Lyon to predictions o Variety of modalities –  If X inactivation works…? (formative) written, oral, video  Clicker question  Draw predictions o Inclusive of people with  XXY Syndrome (formative) Red/Green color blindness  Compare group to Activities during tidbit: peer and published  Why do you see XXY syndrome in work (formative) Klinefelter’s patients if X-inactivation occurs? o In your groups, develop at least 2 Post-tidbit assessments: hypotheses.  1-minute essay o Groups report out. (summative)  In the field, the 2 major hypotheses are… o Some causative genes on the X chromosome escape X-inactivation  Expression of causative genes on the X chromosome occurs before X-inactivation early in development  Students graph predictions as a group. o See handout (see supplemental material) . Example predictions supplied for instructor. o Groups report out.  Experimental testing of prediction o Data from Werler et al. 2011 o In groups, discuss whether these data support either of your predictions. o Clicker question for results  Class discussion o Introduction of topics for next class  One minute essay

Sample Presentation Plan (detailed schedule with approximate timing for unit) National Academies Northstar Institute for Undergraduate Education in Biology Teachable Unit Framework Session 1 Preclass Reading assignment from text book.

Enter approx. class Mini-lecture time for learning 10 minutes activity preparatory material presentation

Enter approx. class 30 minutes time for learning activity #1

Enter approximate time for additional learning activities and associated class Work/preparatory materials

Enter approximate time for post- 10 minutes activity summing up or transition

Add additional activities information as needed for the unit. National Academies Northstar Institute for Undergraduate Education in Biology Teachable Unit Framework Resources for Teaching the Unit

(other files and information needed/helpful to teach the unit, including files for papers from which original data for class activities is taken, supporting information for the instructor, handouts, in class activities materials, assessments with answer keys, homework assignments, etc.)

Werler, S., Poplinski, A., Gromoll, J., and Wistuba, J. 2011. Expression of selected genes escaping from X inactivation in the 41, XXY mouse model for Klinefelter’s syndrome. Acta Paediatrica 100: 885-891.  Source of figure for data interpretation HHMI video on X-inactivation http://www.hhmi.org/biointeractive/x-inactivation

Summary of Origin of the Idea

(How did you come up with this idea? Where did you get the inspiration?)

The source of the idea was a brainstorming session on difficult topics to teach involving heredity. We considered many topics but X inactivation had both a clear “hook” into student emotions/ interests with Klinefelter’s syndrome and could be used for a data interpretation/ analysis activity.

Effectiveness of unit components (if you have used it or part of it in your own teaching)

Summary of Feedback

 It was suggested to add a manipulative of yarn X chromosomes to show X-inactivation. Stickers could be added to indicate a gene on the inactivated X or not for calculating gene dosage. This manipulative would be a valuable extension freshman level course.

 The photo of XXY individuals was a source of discussion. It may be considered overly graphic and dehumanizing. An alternative photo of fully clothed individuals might indicate the range of phenotypes in XXY individuals. On the other hand, the photo was a typical clinical representation of patient phenotypes. We leave this choice up to the individual instructor’s discretion.

 Many comments indicated that the tie to Klinefelter’s syndrome was effective in grabbing student attention.

 Graphing of predictions may be more successful individually and then as group work.

 Table of four graphs was well received in general. We do want to make sure that an instructor points out the two different genes (X-inactivated or not) and in two different times (embryo or adult).

 The hypothesis prediction graphs have been changed in the final upload to gene A and Gene B to avoid confusion with the sample data analysis Gene 1 and Gene 2.

 Summative 3x5 notecard seems too small for the size of the essay. We wanted to emphasize a short, succinct summary of what students covered in class. A more extensive summary would follow the completion of the unit.

Acknowledgements National Academies Northstar Institute for Undergraduate Education in Biology Teachable Unit Framework We would like to acknowledge our facilitators for their assistance in developing this activity.  Kathy Miller, Washington University, St. Louis

 Victoria Corbin, University of Kansas