Parkinson, N;
Hardisty-Hughes, RE;
Tateossian, H;
Tsai, HT;
Brooker, D;
Morse, S;
Lalane, Z;
... Brown, SDM; + view all
(2006)
Mutation at the Evi1 locus in Junbo mice causes susceptibility to otitis media.
PLoS Genetics
, 2
(10)
, Article e149. 10.1371/journal.pgen.0020149.
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Abstract
Otitis media ( OM), inflammation of the middle ear, remains the most common cause of hearing impairment in children. It is also the most common cause of surgery in children in the developed world. There is evidence from studies of the human population and mouse models that there is a significant genetic component predisposing to OM, yet nothing is known about the underlying genetic pathways involved in humans. We identified an N-ethyl-N-nitrosourea-induced dominant mouse mutant Junbo with hearing loss due to chronic suppurative OM and otorrhea. This develops from acute OM that arises spontaneously in the postnatal period, with the age of onset and early severity dependent on the microbiological status of the mice and their air quality. We have identified the causal mutation, a missense change in the C-terminal zinc finger region of the transcription factor Evi1. This protein is expressed in middle ear basal epithelial cells, fibroblasts, and neutrophil leukocytes at postnatal day 13 and 21 when inflammatory changes are underway. The identification and characterization of the Junbo mutant elaborates a novel role for Evi1 in mammalian disease and implicates a new pathway in genetic predisposition to OM.
| Type: | Article |
|---|---|
| Title: | Mutation at the Evi1 locus in Junbo mice causes susceptibility to otitis media |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1371/journal.pgen.0020149 |
| Publisher version: | http://dx.doi.org/10.1371/journal.pgen.0020149 |
| Language: | English |
| Additional information: | © 2006 Parkinson et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
| Keywords: | SIGNALING PATHWAY, MUCIN TRANSCRIPTION, GENOME-WIDE, KAPPA-B, GENE, MOUSE, IDENTIFICATION, MUTAGENESIS, EXPRESSION, SEQUENCE |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1315332 |
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