PUBLICATION

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

Authors
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.
ID
ZDB-PUB-070504-26
Date
2007
Source
Nature Genetics   39(6): 727-729 (Journal)
Registered Authors
Tada, Masazumi
Keywords
none
MeSH Terms
  • Infant, Newborn
  • Polydactyly/genetics
  • Mutation/genetics*
  • Pedigree
  • Zebrafish/genetics*
  • Zebrafish/growth & development
  • Humans
  • Thoracic Diseases/genetics*
  • Tetrahymena thermophila/genetics*
  • Tetrahymena thermophila/growth & development
  • Animals
  • Bone Diseases, Developmental/genetics*
  • Carrier Proteins/genetics*
  • Female
  • Kidney Diseases, Cystic/genetics*
  • Asphyxia/genetics*
  • Male
(all 17)
PubMed
17468754 Full text @ Nat. Genet.
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.
Genes / Markers
Figures
No images available
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Expression
Phenotype
Fish Conditions Stage Phenotype Figure
WT + MO1-ift80standard conditionsUnknown
WT + MO1-ift80standard conditionsUnknown
WT + MO1-ift80standard conditionsUnknown
WT + MO1-ift80standard conditionsDay 5
WT + MO1-ift80standard conditionsDay 5
WT + MO1-ift80standard conditionsDay 5
WT + MO2-ift80standard conditionsUnknown
WT + MO2-ift80standard conditionsUnknown
WT + MO2-ift80standard conditionsUnknown
1 - 9 of 9
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Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
No data available
Mapping
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Citation
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. (2007) IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nature Genetics. 39(6):727-729.