Dissertation Research: Phenotypic Effects of Transposable Element Induced Mutations

9411728个Kocher转座子是离散的遗传元件，可以在基因组中从一个位置移动到另一个位置。转座是大多数，可能是所有生物体自发突变的一个重要来源。人们普遍认为，在编码区插入转座子会导致功能丧失(敲除)突变。这一范例是遗传方法(检测表型突变)的产物，已被用来监测转座子的活性。最近的发现表明，许多转座子是从转录的信息中有效地拼接而来的，因此不会导致表型突变。没有明显表型效应的转座子插入比例尚不清楚。分子方法将被用于根据转座子的DNA结构检测转座子的插入。目标基因中的大量插入片段将被分离，每个插入片段的特征都决定了它的表型和剪接模式。这些结果将对理解真核基因组的结构具有普遍意义，并对转座子工具在分子生物学中的使用以及转座子诱导的突变的检测和治疗具有应用价值。

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.