Carly Craig
Testing the role of ISWI in Xenopus laevis development with a dominant negative ISWI mutant
Williams Syndrome is a genetic disorder that is characterized by visual and spatial processing dysfunction and growth deficiency. Individuals with the disease lack the Williams Syndrome Transcription Factor (WSTF) which forms the WICH complex in conjunction with ISWI. The Imitation Switch (ISWI) is a chromatin remodeler which orcestrates gene activation or silencing in an organized process. Previous Xenopus laevis studies in our lab have shown that fatal neurological and visual impairment results from ISWI impairment during embryonic development. Additionally, depleted ISWI concentrations lead to cataracts in embryos and may illuminate mechanisms responsible for congenital cataracts in humans. Transgenesis involving a dominant negative ISWI mutant will eliminate all function of the ISWI gene following the induction of a heat shock. This will determine if critical developmental periods demand a functional ISWI complex or if continuous expression is necessary for normal growth. Presently, it has yet to be determined if the late abnormal phenotypes (cataracts or brain defects) correspond to ISWI function at specific stages or a downstream effect at neurulation.
Williams Syndrome is a genetic disorder that is characterized by visual and spatial processing dysfunction and growth deficiency. Individuals with the disease lack the Williams Syndrome Transcription Factor (WSTF) which forms the WICH complex in conjunction with ISWI. The Imitation Switch (ISWI) is a chromatin remodeler which orcestrates gene activation or silencing in an organized process. Previous Xenopus laevis studies in our lab have shown that fatal neurological and visual impairment results from ISWI impairment during embryonic development. Additionally, depleted ISWI concentrations lead to cataracts in embryos and may illuminate mechanisms responsible for congenital cataracts in humans. Transgenesis involving a dominant negative ISWI mutant will eliminate all function of the ISWI gene following the induction of a heat shock. This will determine if critical developmental periods demand a functional ISWI complex or if continuous expression is necessary for normal growth. Presently, it has yet to be determined if the late abnormal phenotypes (cataracts or brain defects) correspond to ISWI function at specific stages or a downstream effect at neurulation.
