Arabidopsis 2010 Collaborative Research: Quantifying mutation parameters in a fitness landscape: Spontaneous mutation in A. thaliana in its native range.

突变是复制过程中的错误，导致后代的基因与父母中的任何一方不同。它们在许多生物现象中起着重要作用；它们是所有遗传变异的最终来源，并表现为地球上生命的丰富多样性。突变也是人类和其他生物体的遗传疾病的来源。尽管突变具有重要的生物学意义，但人们对它们的基本特性知之甚少，包括它们的产生速度及其对生物体健康的影响。该项目的目标是估计突变率，并量化突变对个体生存和繁殖的影响。这些特征将通过允许突变在一些纯合亲本的后代中积累来估计，使用植物拟南芥。后代的任何遗传差异一定是由于新的突变。这些突变的影响将在最初收集亲本植物的现场进行量化。突变的速率和适合度效应将在实际发生的现场确定，提供比在受控实验室条件下可能实现的更现实的估计。这项研究显著推进了对突变效应的基本理解，并对一系列生物学问题具有广泛的意义，从理解遗传性疾病的起源到突变在小群体命运中的作用。由于所研究的拟南芥是一种被广泛应用的模式生物，这些新的突变资源将成为研究该物种或其近缘种的研究人员的宝贵资源。来自代表性不足群体的学生将被招募参与这项研究，研究人员计划在高中和本科阶段建立新的生态学和遗传学学生实验室。所有数据和生物资源将通过出版物或拟南芥生物资源中心（http://www.biosci.ohio-state.edu/~plantbio/Facilities/abrc/abrchome.htm）等长期资源库向公众开放。

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 (http://www.biosci.ohio-state.edu/~plantbio/Facilities/abrc/abrchome.htm.