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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 expression of the mutant DFNA5 allele, which is responsible for nonsyndromic autosomal dominant hearing impairment, led to cell cycle arrest. We identified new rat and horse DFNA5 homologues and we describe a domain of homology shared between DFNA5 and the Mcm10 family of DNA replication proteins. Genetic interactions between heterologously expressed DFNA5 and a fission yeast cdc23 (mcm10) mutant support a possible link between DFNA5 and Mcm10 proteins.

Type

Journal article

Journal

Biochim Biophys Acta

Publication Date

14/07/2003

Volume

1638

Pages

179 - 186

Keywords

Alleles, Amino Acid Sequence, Animals, Carrier Proteins, Cell Cycle Proteins, DNA Replication, Genes, Fungal, Hearing Loss, Sensorineural, Horses, Humans, Minichromosome Maintenance Proteins, Molecular Sequence Data, Mutation, Promoter Regions, Genetic, Rats, Receptors, Estrogen, Schizosaccharomyces, Schizosaccharomyces pombe Proteins, Sequence Homology, Amino Acid