IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy


Beales P. L. , BLAND E., TOBIN J. L. , BACCHELLI C., Tuysuz B. , HILL J., ...Daha Fazla

NATURE GENETICS, cilt.39, sa.6, ss.727-729, 2007 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 39 Konu: 6
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1038/ng2038
  • Dergi Adı: NATURE GENETICS
  • Sayfa Sayıları: ss.727-729

Özet

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.