These authors contributed equally to the work.
A reduction in Ptprq associated with specific features of the deafness phenotype of the miR-96 mutant mouse diminuendo
Article first published online: 22 JAN 2014
© 2014 The Authors. European Journal of Neuroscience published by Federation of European Neuroscience Societies and John Wiley & Sons Ltd.
This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
European Journal of Neuroscience
Volume 39, Issue 5, pages 744–756, March 2014
How to Cite
Chen, J., Johnson, S. L., Lewis, M. A., Hilton, J. M., Huma, A., Marcotti, W. and Steel, K. P. (2014), A reduction in Ptprq associated with specific features of the deafness phenotype of the miR-96 mutant mouse diminuendo. European Journal of Neuroscience, 39: 744–756. doi: 10.1111/ejn.12484
- Issue published online: 3 MAR 2014
- Article first published online: 22 JAN 2014
- Manuscript Accepted: 18 DEC 2013
- Manuscript Revised: 16 DEC 2013
- Manuscript Received: 25 NOV 2013
- Wellcome Trust. Grant Numbers: 100669, 091895
- Action on Hearing Loss. Grant Number: G41
- ear development;
- hereditary hearing loss;
- knockout and transgenic m;
- molecular genetics;
- sensory hair cells
miR-96 is a microRNA, a non-coding RNA gene which regulates a wide array of downstream genes. The miR-96 mouse mutant diminuendo exhibits deafness and arrested hair cell functional and morphological differentiation. We have previously shown that several genes are markedly downregulated in the diminuendo organ of Corti; one of these is Ptprq, a gene known to be important for maturation and maintenance of hair cells. In order to study the contribution that downregulation of Ptprq makes to the diminuendo phenotype, we carried out microarrays, scanning electron microscopy and single hair cell electrophysiology to compare diminuendo mutants (heterozygous and homozygous) with mice homozygous for a functional null allele of Ptprq. In terms of both morphology and electrophysiology, the auditory phenotype of mice lacking Ptprq resembles that of diminuendo heterozygotes, while diminuendo homozygotes are more severely affected. A comparison of transcriptomes indicates there is a broad similarity between diminuendo homozygotes and Ptprq-null mice. The reduction in Ptprq observed in diminuendo mice appears to be a major contributor to the morphological, transcriptional and electrophysiological phenotype, but does not account for the complete diminuendo phenotype.