title: IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.
abstract: Jeune asphyxiating thoracic dystrophy, an autosomal recessive chondrodysplasia, often leads to death in infancy because of a severely constricted thoracic cage and respiratory insufficiency; retinal degeneration, cystic renal disease and polydactyly may be complicating features. We show that IFT80 mutations underlie a subset of Jeune asphyxiating thoracic dystrophy cases, establishing the first association of a defective intraflagellar transport (IFT) protein with human disease. Knockdown of ift80 in zebrafish resulted in cystic kidneys, and knockdown in Tetrahymena thermophila produced shortened or absent cilia.
authors.affiliation: Molecular Medicine Unit, University College London (UCL) Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.
authors.forename: Philip L
authors.initials: PL
authors.lastname: Beales
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Bland
authors.forename: Jonathan L
authors.initials: JL
authors.lastname: Tobin
authors.forename: Chiara
authors.initials: C
authors.lastname: Bacchelli
authors.forename: Beyhan
authors.initials: B
authors.lastname: Tuysuz
authors.forename: Josephine
authors.initials: J
authors.lastname: Hill
authors.forename: Suzanne
authors.initials: S
authors.lastname: Rix
authors.forename: Chad G
authors.initials: CG
authors.lastname: Pearson
authors.forename: Masatake
authors.initials: M
authors.lastname: Kai
authors.forename: Jane
authors.initials: J
authors.lastname: Hartley
authors.forename: Colin
authors.initials: C
authors.lastname: Johnson
authors.forename: Melita
authors.initials: M
authors.lastname: Irving
authors.forename: Nursel
authors.initials: N
authors.lastname: Elcioglu
authors.forename: Mark
authors.initials: M
authors.lastname: Winey
authors.forename: Masazumi
authors.initials: M
authors.lastname: Tada
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Scambler
mesh_terms: D000818:Animals; D001237:Asphyxia / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D052177:Kidney Diseases, Cystic / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D017689:Polydactyly / Q000235:genetics; D016808:Tetrahymena thermophila / Q000235:genetics* / Q000254:growth & development; D013896:Thoracic Diseases / Q000235:genetics*; D015027:Zebrafish / Q000235:genetics* / Q000254:growth & development
chemical_list: D002352:Carrier Proteins