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Human Molecular Genetics Advance Access originally published online on October 11, 2006
Human Molecular Genetics 2006 15(22):3273-3279; doi:10.1093/hmg/ddl403
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© The Author 2006. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

A mutation in the F-box gene, Fbxo11, causes otitis media in the Jeff mouse

Rachel E. Hardisty-Hughes1, Hilda Tateossian1, Susan A. Morse1, M. Rosario Romero1, Alice Middleton1, Zuzanna Tymowska-Lalanne1, A. Jackie Hunter2, Michael Cheeseman1,3 and Steve D.M. Brown1,*

1 MRC Mammalian Genetics Unit, Harwell, OX11 0RD, UK, 2 GlaxoSmithKline Pharmaceuticals, New Frontiers Science Park, Harlow CM19 5AW, UK and 3 MRC Mary Lyon Centre, Harwell, OX11 0RD, UK

* To whom correspondence should be addressed: s.brown{at}har.mrc.ac.uk

Received July 10, 2006; Accepted September 21, 2006

Otitis media (OM), inflammation of the middle ear, is the most common cause of hearing impairment and surgery in children. Recurrent and chronic forms of OM are known to have a strong genetic component, but nothing is known of the underlying genes involved in the human population. We have previously identified a novel semi-dominant mouse mutant, Jeff, in which the heterozygotes develop chronic suppurative OM (Hardisty, R.E., Erven, A., Logan, K., Morse, S., Guionaud, S., Sancho-Oliver, S., Hunter, A.J., Brown, S.D. and Steel, K.P. (2003) The deaf mouse mutant Jeff (Jf) is a single gene model of otitis media. J. Assoc. Res. Otolaryngol., 4, 130–138.) and represent a model for chronic forms of OM in humans. We demonstrate here that Jeff carries a mutation in an F-box gene, Fbxo11. Fbxo11 is expressed in epithelial cells of the middle ears from late embryonic stages through to day 13 of postnatal life. In contrast to Jeff heterozygotes, Jeff homozygotes show cleft palate, facial clefting and perinatal lethality. We have also isolated and characterized an additional hypomorphic mutant allele, Mutt. Mutt heterozygotes do not develop OM but Mutt homozygotes also show facial clefting and cleft palate abnormalities. FBXO11 is one of the first molecules to be identified, contributing to the genetic aetiology of OM. In addition, the recessive effects of mutant alleles of Fbxo11 identify the gene as an important candidate for cleft palate studies in the human population.


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