by Yohan J. John
The DNA molecule is often described as the book of life, as a blueprint for constructing the organism, or as a program for computing the organism. These metaphors have become so pervasive that we often forget that they are metaphors. In this essay I'd like to take this class of metaphor —the life-as-information metaphor — seriously, and investigate what some recent findings in molecular biology look like when mapped onto the world of books, blueprints and programs. I'd like to run with the information metaphor, seeing how far it can take us. I think this will help us understand the limits of the metaphor, but more importantly, it can help us appreciate the richness and complexity of biological processes, and the sheer scale of the ongoing endeavor to understand the science of life. [In part I of this series I looked at the origins of information theory and computer science, and in part II I traced the history of genetics, up to the discovery of the genetic code. This essay continues the themes from those columns, but can be read as a standalone article.]
The discovery of the double helix structure of the DNA molecule in the mid 20th century was the culmination of a quest to understand the nature of heredity that had begun a little over a century before. In the early 19th century, biologists began asking two intertwined questions about organisms: the question of heredity, and the question of development. How did hereditary traits pass from one generation to the next? And what biological, chemical and physical processes were involved in the development of the organism from an embryo? The first question was often described as a question of 'ultimate causes', and was closely linked to the theory of evolution by natural selection. Charles Darwin's theory depended on inheritance, but he could only provide speculative accounts of the physical basis of heredity. Many 19th century cell biologists were more interested in what they saw as the nuts and bots of biology, and preferred to investigate the question of development. They believed that only 'proximal causes' could be tested in a lab, and perhaps even witnessed under a microscope. Evolutionary theory by contrast seemed more like philosophy.
The two sorts of question 19th century biologists were interested in find their counterpart in two broad spheres of genetics research: transmission genetics, which studies how hereditary traits pass from one generation to the next, and developmental genetics, which studies how genes participate in the physical processes by which traits become manifest in cells and in organisms. The concept of the genotype is useful when thinking about transmission genetics: the genotype is the sum total of the genetic makeup of an organism, and in a sense represents all the potential hereditary traits that can become manifest. Nowadays the word 'genome' is used in a closely related way. When thinking about developmental genetics, the concept of the phenotype is central: it is the sum total of an organism's observable traits, which are not just a product of the genetic makeup, but are also influenced by the environment, and by the developmental process itself. Transmission genetics studies how the inheritance, reassembly and mutation of genetic material lead to the formation of a genotype, whereas developmental genetics studies how the potential latent in the genotype is actualized to give rise to the phenotype.
