Overview

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. Mutations in BBS1 have 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 the genome browser, you will also learn how to

1. Evaluate gene structure within a genome (chapter 2).
2. Use RNA evidence to pinpoint the position of genes (chapters 3 and 4).
3. Identify DNA and RNA sequence motifs critical for gene expression (chapters 5 and 6).
4. Identify and assess pathogenic and benign mutations (chapter 7).
5. Examine gene conservation between humans and simpler model organisms (chapter 8).

This manual is used in conjunction with an undergraduate genetics course taught at Cal State University, East Bay. It’s called BIOL 310, Genetic Analysis I. The course begins with a superficial overview of genetics followed by two lectures about single gene inheritance. After that we start covering the chapters that discuss DNA structure, DNA replication, transcription, translation, DNA damage etc.