Identification of Sox8 as a modifier gene in a mouse model of Hirschsprung disease reveals underlying molecular defect.

@article{Maka2005IdentificationOS,
  title={Identification of Sox8 as a modifier gene in a mouse model of Hirschsprung disease reveals underlying molecular defect.},
  author={Marzena Maka and Claus C. Stolt and Michael Wegner},
  journal={Developmental biology},
  year={2005},
  volume={277 1},
  pages={155-69}
}
Mice carrying heterozygous mutations in the Sox10 gene display aganglionosis of the colon and represent a model for human Hirschsprung disease. Here, we show that the closely related Sox8 functions as a modifier gene for Sox10-dependent enteric nervous system defects as it increases both penetrance and severity of the defect in Sox10 heterozygous mice despite having no detectable influence on enteric nervous system development on its own. Sox8 exhibits an expression pattern very similar to… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 78 extracted citations

Similar Papers

Loading similar papers…