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Mutation at the Evi1 locus in Junbo mice causes susceptibility to otitis media

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. Green open access

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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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