Genetic variations in transposable elements: Germ line differences and somatic variations induced during neurogenesis

人类和其他基因组的测序产生了大量的数据。一个挑战是理解为什么98.94%的基因组似乎不编码功能蛋白质。另一个原因是为什么超过一半的序列包含“寄生的”转座因子（TE），它们可以在基因组中的任何其他地方产生自己的拷贝。近年来，关于“寄生”和“垃圾”DNA对生物学的影响的看法发生了转变。该项目旨在使用下一代测序技术产生的数据来确定TE是否以及如何影响大脑的发育，它们是否会导致个体之间的差异，以及它们在基因组中复制自己的频率。TE元件的出现和表达与多种人类疾病如癌症、糖尿病和精神分裂症有关。在我们希望了解它们如何导致疾病之前，有必要对它们在正常“健康”过程中的作用有一个基本的了解。

The sequencing of human and other genomes has produced an overwhelming amount of data. One challenge is to understand why 98.94% of the genome does not seem to be coding for functional proteins. Another is why over half of the sequence contains "parasitic" Transposable Elements (TE) that can produce copies of themselves anywhere else in the genome. In recent years there has been a shift in perception concerning the effects of "parasitic" and "junk" DNAs on biology. This project aims to use the data produced by next-generation sequencing technologies to determine if and how TE affect the development of the brain, whether they contribute differences between individuals and exactly how commonly they copy themselves around the genome. The occurrence and expression of TE elements have been associated with several human diseases such as cancer, diabetes and schizophrenia. A fundamental understanding of their role in normal "healthy" processes is necessary before we can hope to understand how they contribute to disease.