IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.
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.
Beales
Philip L
PL
Molecular Medicine Unit, University College London (UCL) Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.
Bland
Elizabeth
E
Tobin
Jonathan L
JL
Bacchelli
Chiara
C
Tuysuz
Beyhan
B
Hill
Josephine
J
Rix
Suzanne
S
Pearson
Chad G
CG
Kai
Masatake
M
Hartley
Jane
J
Johnson
Colin
C
Irving
Melita
M
Elcioglu
Nursel
N
Winey
Mark
M
Tada
Masazumi
M
Scambler
Peter J
PJ
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
D002352:Carrier Proteins