Fantastic Genes and Where to Find Them
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
- Use the Genome Browser to examine gene structure within a genome (Chapter Three)
- Use the Genome Browser to analyze RNA evidence for the existence of genes (Chapters Four and Five).
- Identify DNA and RNA sequence motifs critical for gene expression (Chapter Six).
- Identify and assess pathogenic and benign mutations that map to BBS1 (Chapter Seven).
- Analyze sequence conservation between BBS1 and simpler model organisms (Chapter Eight).
pleiotropy is a condition in which a single gene influences more than one trait (Snustad).↩︎