Questioning the Assumption of Neutrality

A research paper by Professor Laurence Hurst and colleagues contains information that could impact both treatment of disease and thinking about evolution. A University of Bath news item refers to the paper. From the cited source:

The paper showed that the assumption that synonymous mutations (those that change DNA of a gene but not the resulting protein) occurring in the genomes of mammals were neutrally evolving – i.e. that chance alone determined their fate – was no longer valid.

This rolls back the front line of the debate concerning the role of selection and chance in molecular evolution, and is important because the assumption of neutrality of synonymous mutations has been a keystone of estimates for how often mutation occurs.

“Importantly it also showed how the selection acts and how this has implications for understanding human disease,” said Professor Hurst.

“It was often assumed that synonymous mutations could not be candidates for human disease.

“The paper shows that this isn’t true, and that many diseases are in fact owing to such changes.”