The importance of some mutations

Identifying the genetic source of a specific trait can be a little like finding a needle in a field full of haystacks. University of Dayton biologist Thomas Williams is working to shrink the number of haystacks. This study is entitled “Recurrent Modification of a Conserved Cis-Regulatory Element Underlies Fruit Fly Pigmentation Diversity” and is published in PLoS Genetics. “Scientists have mapped the genomes of humans and several animals, yet our understanding of how that information is stored and how it produces traits is woefully inadequate”, Williams said. “There are literally millions of places where changes occur, but only thousands of places where it matters”. The location for mutations occurs randomly in genomes. Many of these mutations are neutral, with no measurable effect on encoded information. Some mutations degrade information, leading to disease or disease risk. And some mutations modify information in useful ways. “The great challenge for the era is to determine which mutations are neutral, injurious or beneficial”, Williams said. “This difficulty is especially challenging for so-called genetic `switches`”.