Arabidopsis 2010 Collaborative Research: RUI: 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，会导致后代拥有与双亲不同的基因。它们在许多生物现象中发挥着基本作用；它们是所有遗传变异的最终来源，并表现为地球上丰富的生命多样性。突变也是人类和其他生物体遗传性疾病的来源。尽管突变在生物学上具有重要意义，但人们对它们的基本特性知之甚少，包括它们的产生率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子父母的后代中积累来估计，使用植物拟南芥。后代中的任何遗传差异都必须是由于新的突变。这些突变的影响将在最初采集亲本植物的田间地点进行量化。突变的速度和适合度效应将在现场确定，它们实际发生的地方，提供一个比在受控实验室条件下可能的更现实的估计。这项研究极大地促进了对突变影响的基本理解，并对从理解可遗传疾病的起源到突变在小种群命运中的作用等一系列生物学问题具有广泛的影响。由于研究生物拟南芥是一种应用广泛的模式生物，这些新的突变资源将成为研究该物种或其近亲的研究人员社区的宝贵资源。来自代表性不足群体的学生将被招募参与这项研究，调查人员计划在高中和本科生水平上开发新的生态学和遗传学学生实验室。

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.