Dissertation Research: Phenotypic Effects of Transposable Element Induced Mutations

小行星9411728 转座子是可以在基因组中从一个位点移动到另一个位点的离散遗传元件。 转座是大多数甚至可能是所有生物体自发突变的重要来源。 人们普遍认为，转座子插入编码区导致功能丧失（敲除）突变。 这种模式是遗传学方法（检测表型突变体）的产物，该方法已用于监测转座子活性。 最近的发现表明，许多转座子是有效地剪接从转录的信息，所以不诱导表型突变。 没有可见表型效应的转座子插入的比例是未知的。 分子方法将用于基于其DNA结构检测转座子插入。 靶基因中的大量插入将被分离，并且每个插入被表征以确定其表型和剪接模式。 这些结果将对理解真核生物基因组的结构具有普遍意义，以及在分子生物学中使用转座子工具以及检测和治疗转座子诱导的突变的应用益处。

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.