Primer on medical genomics part VII: The evolving concept of the gene

The draft sequence of the human genome was reported 2 years ago, and the task of filling gaps and polishing the sequence is nearing completion. However, despite this remarkable achievement, there is still no definitive assessment of the number of genes contained in the human genome. In part, this uncertainty reflects our growing understanding of the complexity and diversity of gene structure. Examples of complex gene structure are considered in the context of a discussion about the evolution of our understanding of gene structure and function.