人类基因组DNA拷贝数变异的形成机制

The universal existence of numerous DNA copy number variations(CNVs) in the human genome and other mammalian genomes has been viewed as a breakthrough discovery in genome research in the last decade, which fundamentally changed our perception of the original complex dynamic plasticity of the genome, providing an important clue for understanding the causes of many diseases processes. However, although a large number of CNVs have been found in the human genome, little is known about the formation mechanism such ubiquitous genomic alteration. Theories proposed thus far are almost all speculations on the observed structural changes, with none being verified by experiments. In this project propose a new theory on the mechanism of formation DNA copy number variation. This theory readily provides plausible explanation for the formation various CNVs structures. We propose establish a new experimental system to verify the predictions derived from the new theory.

人类及其它哺乳动物基因组中存在大量的DNA拷贝数变异（CNVs）现象是近十多年来基因组学研究的重大发现。这一发现改变了我们对复杂基因组动态可塑性的原有观念，为我们理解许多疾病的成因提供了新的线索。然而，虽然目前科学家已发现了人类基因组存在大量的CNVs，但是学术界对如此普遍存在的基因组变异的生成机制所知甚少。至今世界上提出的理论几乎都是对已观察到的基因组结构改变结果的推测性解释，缺乏实验验证。本课题提出一种关于DNA拷贝数变异生成机制的全新理论。这一理论可非常简便地解释各种CNVs结构的产生机制。我们还提出建立一个新的实验体系，对根据新理论导出的明确预测结果，进行严格的实验验证。