Dissertation Research: Phenotypic Effects of Transposable Element Induced Mutations

论文研究：转座元件诱导突变的表型效应

• 批准号: 9411728
• 负责人: Thomas Kocher
• 金额: $ 0.8万
• 依托单位: University of New Hampshire
• 依托单位国家: 美国
• 项目类别: Standard Grant
• 财政年份: 1994
• 资助国家: 美国
• 起止时间: 1994-09-01 至 1996-08-31
• 项目状态: 已结题
• 来源: https://www.nsf.gov/awardsearch/showAward?AWD_ID=9411728&HistoricalAwards=false
• 关键词: Dissertation; Research; Phenotypic; Effects; Transposable

9411728 KOCHER Transposons are discrete genetic elements which can move from site to site in the genome. Transposition is a significant source of spontaneous mutation in most, probably all, organisms. It is widely supposed that transposon insertions in coding regions cause loss-of-function (knock-out) mutations. This paradigm is the product of the genetic methods (detection of phenotypic mutants) which have been used to monitor transposon activity. Recent discoveries suggest that many transposons are efficiently spliced from transcribed messages, and so do not induce phenotypic mutations. The proportion of transposon insertion which have no visible phenotypic effect is unknown. Molecular methods will be used to detect transposon insertions based on their DNA structure. A large number of insertions in a target gene will be isolated, and each characterized to determine its phenotype and pattern of splicing. The results will have general implications for understanding the structure of eucaryotic genomes, as well as applied benefits for the use of transposon tools in molecular biology, and the detection and treatment of transposon-induced mutations.

9411728 Kocher转座子是离散的遗传元件，可以在基因组中从位点转移到位置。 在大多数（可能都是所有）中，转座是自发突变的重要来源。 人们普遍认为，编码区域中的转座插入会导致功能丧失（敲除）突变。 该范例是用于监测转座子活性的遗传方法（检测表型突变体）的产物。 最近的发现表明，许多转座是从转录消息中有效剪接的，因此不会诱导表型突变。 未明显表型效应的转座子插入的比例尚不清楚。 分子方法将根据其DNA结构检测转座子插入。 将隔离在目标基因中的大量插入，每个插入均以确定其表型和剪接模式的表征。 该结果将对理解桉树基因组的结构以及用于在分子生物学中使用转座子工具以及转座子诱导的突变的检测和治疗的应用具有一般影响。