ZFIN ID: ZDB-PUB-070504-26
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., Rix, S., Pearson, C.G., Kai, M., Hartley, J., Johnson, C., Irving, M., Elcioglu, N., Winey, M., Tada, M., and Scambler, P.J.
Date: 2007
Source: Nature Genetics   39(6): 727-729 (Journal)
Registered Authors: Tada, Masazumi
Keywords: none
MeSH Terms:
  • Animals
  • Asphyxia/genetics*
  • Bone Diseases, Developmental/genetics*
  • Carrier Proteins/genetics*
  • Female
  • Humans
  • Infant, Newborn
  • Kidney Diseases, Cystic/genetics*
  • Male
  • Mutation/genetics*
  • Pedigree
  • Polydactyly/genetics
  • Tetrahymena thermophila/genetics*
  • Tetrahymena thermophila/growth & development
  • Thoracic Diseases/genetics*
  • Zebrafish/genetics*
  • Zebrafish/growth & development
PubMed: 17468754 Full text @ Nat. Genet.
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.