ABSTRACT
In this chapter, the authors cover two areas. First, they describe what is currently known about the architecture of the human genome—the different classes of DNA sequences, their characteristics, and how they are organized. Secondly, they describe recent and ongoing global efforts to build comprehensive catalogs of human genes, gene products, and regulatory sequences, and to carry out genome-wide investigations to dissect how the people genome functions. The authors examine how genes are organized in genome, and the extent and organization of repetitive gene sequences and gene families. They examine how the ENCODE Project and ongoing studies, including global analyses of gene function and of human transcriptomes and proteomes, seek to define the functional elements in the people genome, and how their genome works. Preliminary analyses of draft human genome sequences reported in 2001 suggested about 30,000 (protein-coding) genes. In the post-genome era, there has been a major re-evaluation of the importance of RNA genes.
