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.
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