Preface

First I want to acknowledge the Genome Education Partnership for the inspiration for this activity manual. They developed an amazing resource to learn about eukaryotic gene structure and function using the UCSC Genome Browser but with a focus on a Drosophila gene, TRA. This manual focuses instead on the human genome. My hope is that the skills you learn and links I provide can be used as a springboard to continue to explore and expand your knowledge about human genetics more broadly.

Throughout the semester, you will use a web-based visualization tool called a Genome Browser to explore gene structure and function in humans. We will focus on the human gene, BBS1. BBS1 has been implicated in Bardet Biedl Syndrome, a pleiotropic1 disease with a variety of symptoms including blindness, obesity, polydactyly, cognitive impairment, renal abnormalities, infertility and anosmia. In addition to learning how to navigate through a genome browser, you will also learn how to

  1. Use the Genome Browser to examine gene structure within a genome (Chapter Three)
  2. Use the Genome Browser to analyze RNA evidence for the existence of genes (Chapters Four and Five).
  3. Identify DNA and RNA sequence motifs critical for gene expression (Chapter Six).
  4. Identify and assess pathogenic and benign mutations that map to BBS1 (Chapter Seven).
  5. Analyze sequence conservation between BBS1 and simpler model organisms (Chapter Eight).

How to Navigate this site efficiently

This website can be viewed on a computer, tablet or phone. That said, navigating through the UCSC genome browser is much easier on a laptop or desktop computer. Moreover, the instructions I provide assume you are using one of the two. When on a computer, the table of contents (side bar) can be toggled in and out by typing “s”. For additional keyboard short cuts, see below.



All figures can be enlarged by clicking on an image of interest. To reduce the image back to its original size and continue reading, click on the enlarged image again.

Throughout this tutorial, you will come across footnotes. When you click on a number corresponding to a footnote, you will be taken to the end of the chapter to read the footnote. To continue reading, simply click the return icon at the end of the footnote to return to your spot in the manual.

It is best to read this document with a pen and paper in hand to take notes. This will be especially useful when answering “Test Your Understanding” and “For Discussion” questions. Sometimes, the Google Quizzes (where you submit your answers) will fail. If you have your answers written down it will be easy to resubmit. Finally, you need to be logged into your horizon email account in order to access the “Test Your Understanding” online quizzes.


  1. pleiotropy is a condition in which a single gene influences more than one trait (Snustad).↩︎