A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment.

@article{Gregn2003AYM,
  title={A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment.},
  author={Juraj Greg{\'a}n and Lut Van Laer and Louis D Lieto and Guy Van Camp and Stephen E. Kearsey},
  journal={Biochimica et biophysica acta},
  year={2003},
  volume={1638 2},
  pages={179-86}
}
A mutation in human DFNA5 is associated with autosomal dominant nonsyndromic hearing impairment. The function of DFNA5 protein remains unknown and no experimental model has been described so far. Here we describe fission yeast Schizosaccharomyces pombe as a model organism for studying the function of heterologously expressed DFNA5. We have expressed wild-type as well as mutant DFNA5 alleles under control of regulatable nmt1 promoter. Yeast cells tolerated expression of wild-type DFNA5, while… CONTINUE READING