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IFT80, which encodes a conserved intrafl ... asphyxiating thoracic dystrophy
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.
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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 PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, Scambler PJ
Nature genetics
2007-06-01 00:00
39
6
727-9
1 Molecular Medicine Unit, University College London UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK 2 These authors contributed equally to this work
Nat. Genet.
1061-4036
10.1038/ng2038
ng2038
1254
True
17468754
