We are interested in the mechanisms that keep development on track, even when cells are faced with deleterious changes like genetic mutations.
A useful system for understanding how an animal overcomes a deleterious mutation is zebrafish with a mutation in the transcription factor encoding gene myocyte enhancer factor 2ca (mef2ca). Zebrafish mef2ca mutants develop wildly variable phenotypes ranging from massive plates of extra bone, to essentially wild-type facial skeletons. This mef2ca mutant variability is heritable, such that selective breeding generates consistently severe or mild mef2ca mutant zebrafish strains. Transcriptomic comparisons between severe and mild mutants motivate mechanistic hypotheses which we test with genetics, genomics and cellular-level analyses including colorful live imaging.
Exploring these phenomena in zebrafish may help us understand why humans with genetic disorders variably manifest symptoms in the clinic.
A useful system for understanding how an animal overcomes a deleterious mutation is zebrafish with a mutation in the transcription factor encoding gene myocyte enhancer factor 2ca (mef2ca). Zebrafish mef2ca mutants develop wildly variable phenotypes ranging from massive plates of extra bone, to essentially wild-type facial skeletons. This mef2ca mutant variability is heritable, such that selective breeding generates consistently severe or mild mef2ca mutant zebrafish strains. Transcriptomic comparisons between severe and mild mutants motivate mechanistic hypotheses which we test with genetics, genomics and cellular-level analyses including colorful live imaging.
Exploring these phenomena in zebrafish may help us understand why humans with genetic disorders variably manifest symptoms in the clinic.
