Grant: Discovery Grants Program - Individual

Genetic variation is the underlying mechanism behind the vivid diversity of our own human species and of all other organisms. Understanding the mechanisms of how such genetic diversity is generated and how it leads to biological variations continues to be an intriguing and fundamental question in life science and has invaluable implications in medicine and agriculture. Transposable elements are a class of genetic elements existing in abundance in the genomes of most organisms and functioning as a major source of genetic diversity. The long-term objective of this research program is to provide a comprehensive understanding about how transposable elements propagate and how they impact the evolution and function of the genome. In short term, the research will focus on the analysis of the human genome sequences with 3 specific aims: 1) comprehensive identification of genetic polymorphisms contributed by transposable elements through DNA transposition and related genomic rearrangements via computational analysis of personal genome sequence data; 2) systematic documentation of the genetic polymorphisms identified from Aim 1, as well as those reported in literature by others, via development of integrative computer databases; 3) functional study of transposable element-derived polymorphisms by examining their impact on gene expression, regulation, function, genome evolution and their contribution to diseases. The program is expected to bring significant advancement to our understanding of the mechanisms of DNA transposition and its contributions to genetic diversity and its impact on the function and evolution of genomes. The developed databases will become valuable resources for the genetics research community. Furthermore, this research program will provide participants with training for the state-of-the-art bioinformatics, genomics and genetics research skills that are essential for future biomedical discoveries.