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    
Abstract/OtherAbstract:
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.
Authors:
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
Related Documents :
24163429 - Apoe associations with severe caa-associated vasculopathic changes: collaborative meta-...
24387689 - A novel tri-allelic insertion/deletion polymorphism in the promoter of p21(waf1/cip1) a...
22957059 - Genome-wide association study identified cnp12587 region underlying height variation in...
23470839 - A prospective study of brachytelephalangic chondrodysplasia punctata: identification of...
24686929 - The genetical theory of social behaviour.
22981569 - Relationship between body condition score and health traits in first-lactation canadian...
19935829 - The (cag)n tract of machado-joseph disease gene (atxn3): a comparison between dna and m...
15579719 - Evolution of dominance in metabolic pathways.
8774129 - Single somatic ras gene point mutation in soft tissue malignant fibrous histiocytomas.
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    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Alleles
Amino Acid Sequence
Animals
F-Box Proteins / chemistry,  genetics*,  metabolism*
Homozygote
Mice
Molecular Sequence Data
Mutation / genetics*
Otitis Media / genetics*,  metabolism,  pathology*
Phenotype
Proteins / genetics*,  metabolism*
Grant Support
ID/Acronym/Agency:
MC_U142684172//Medical Research Council; MC_U142684175//Medical Research Council
Chemical
Reg. No./Substance:
0/F-Box Proteins; 0/Fbxo11 protein, mouse; 0/JF protein, mouse; 0/Proteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  DISC1-NDEL1/NUDEL protein interaction, an essential component for neurite outgrowth, is modulated by...
Next Document:  Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa.