Mutations in Cancer-Related Genes
My laboratory uses mice to model human diseases and to conduct other aspect of genetic studies, including gene identification. We are currently using knockout mouse models to study a unique class of human syndromes that are caused by mutations in RecQ DNA helicase homologues. Defects in RecQ DNA helicase homologues in these human syndromes have led to genomic instability and cancer predisposition and a great variety of other abnormalities. We are particularly interested in studying how defects in individual RecQ helicase can lead to specific disease phenotypes in these distinct yet similar syndromes. A mouse model for both Bloom and Rothmund-Thomson syndromes are now being studied in our laboratory.
We are also continuing to develop the Sleeping Beauty (SB) transposon as an insertional mutagen for the mouse genetic study. The SB transposon is the only known active DNA transposon in mice. We are currently using this transposon system to set up transposon-tagged mutagenesis strategies for phenotype-driven genetic screens in mice to identify novel candidates genes for cancer and other human diseases.