Document Detail

A mutation in the F-box gene, Fbxo11, causes otitis media in the Jeff mouse.
MedLine Citation:
PMID:  17035249     Owner:  NLM     Status:  MEDLINE    
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.
Rachel E Hardisty-Hughes; Hilda Tateossian; Susan A Morse; M Rosario Romero; Alice Middleton; Zuzanna Tymowska-Lalanne; A Jackie Hunter; Michael Cheeseman; Steve D M Brown
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2006-10-11
Journal Detail:
Title:  Human molecular genetics     Volume:  15     ISSN:  0964-6906     ISO Abbreviation:  Hum. Mol. Genet.     Publication Date:  2006 Nov 
Date Detail:
Created Date:  2006-10-27     Completed Date:  2006-12-22     Revised Date:  2014-02-19    
Medline Journal Info:
Nlm Unique ID:  9208958     Medline TA:  Hum Mol Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  3273-9     Citation Subset:  IM    
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MeSH Terms
Amino Acid Sequence
F-Box Proteins / chemistry,  genetics*,  metabolism*
Molecular Sequence Data
Mutation / genetics*
Otitis Media / genetics*,  metabolism,  pathology*
Proteins / genetics*,  metabolism*
Grant Support
MC_U142684172//Medical Research Council; MC_U142684175//Medical Research Council
Reg. No./Substance:
0/F-Box Proteins; 0/Fbxo11 protein, mouse; 0/JF protein, mouse; 0/Proteins

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