18 Structure and Function of the Human Genome

Abstract

The past decade in biological research has surely been the decade of genome research—from the scientific perspective, in the public imagination, and even in the minds of international politicians. It is therefore timely to use this 10th anniversary of Genome Research to take stock of where we are and where we might be in another decade in our understanding of the human genome.

The scale of the human DNA sequence must mean that no reviewer can capture all of the information it contains and therefore I concentrate on what novel information emerges from the completed sequence rather than on the detail of what we learned from each gene or each base.

The Human Genome Project (HGP) has had scientific and political impacts on biological research; scientifically, it has provided a novel conceptual dimension to human biology, that of “completeness.” This word captures the idea that we now have finite bounds to research because the genome sequence contains all of the information that is used in making human cells and organisms. We can soon legitimately claim to study the behavior of all of our genes in a way that was quite inconceivable prior to the availability of the sequence. Politically, the HGP is changing our perspectives on how biological research can be organized in our institutions. This review inevitably focuses on the scientific outcomes, but toward the end of the review, I discuss the idea that perhaps the HGP’s significant long-term impact will be on the organization of scientific research.