Mutations are errors in replication that result in offspring having a different gene than either parent. They play a fundamental role in many biological phenomena; they are the ultimate source of all genetic variation and are manifested as the rich diversity of life on earth. Mutations are also the source of genetically based diseases of humans and other organisms. Despite the biological importance of mutations, little is known of their fundamental properties, including their rate of production and their effects on the health of the organism. The goal of this project is to estimate mutation rates and to quantify the effects of mutations on the survivorship and reproduction of individuals. These characteristics will be estimated by allowing mutations to accumulate in the offspring of a number of homozygous parents, using the plant Arabidopsis thaliana. Any genetic differences in the offspring must be due to new mutations. The effects of these mutations will be quantified at field sites where parental plants were originally collected. The rate and fitness effects of mutations will be determined in the field, where they would actually occur, providing a more realistic estimate than is possible in controlled laboratory conditions.
This research significantly advances the fundamental understanding of mutation effects, and has broad implications for a range of biological questions from understanding the origin of heritable diseases to the role of mutations in the fate of small populations. Because the study organism, Arabidopsis thaliana, is a widely used model organism, these new mutation resources will become a valuable resource for the community of researchers studying this species or its close relatives. Students from under-represented groups will be recruited to participate in the research, and the investigators plan to develop new student labs in ecology and genetics at the high school and undergraduate levels.
All data and biological resources will be made available to the public either through publications or long-term repositories such as the Arabidopsis Biological Resource Center (www.biosci.ohio-state.edu/~plantbio/Facilities/abrc/abrchome.htm.
