Genes e causação: ainda estamos engatinhando???

sexta-feira, agosto 24, 2012

Genes and causation

Denis Noble*

Author Affiliations

Department of Physiology, Anatomy and Genetics, University of Oxford Parks Road, Oxford OX1 3PT, UK



Relating genotypes to phenotypes is problematic not only owing to the extreme complexity of the interactions between genes, proteins and high-level physiological functions but also because the paradigms for genetic causality in biological systems are seriously confused. This paper examines some of the misconceptions, starting with the changing definitions of a gene, from the cause of phenotype characters to the stretches of DNA. I then assess whether the ‘digital’ nature of DNA sequences guarantees primacy in causation compared to non-DNA inheritance, whether it is meaningful or useful to refer to genetic programs, and the role of high-level (downward) causation. The metaphors that served us well during the molecular biological phase of recent decades have limited or even misleading impacts in the multilevel world of systems biology. New paradigms are needed if we are to succeed in unravelling multifactorial genetic causation at higher levels of physiological function and so to explain the phenomena that genetics was originally about. Because it can solve the ‘genetic differential effect problem’, modelling of biological function has an essential role to play in unravelling genetic causation.


genes genetic causation genetic program digital coding analogue representation cell inheritance


One contribution of 12 to a Theme Issue ‘The virtual physiological human: building a framework for computational biomedicine I’.

© 2008 The Royal Society