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
-
- Zebrafish/genetics*
- Zebrafish/growth & development
- Male
- Female
- Kidney Diseases, Cystic/genetics*
- Bone Diseases, Developmental/genetics*
- Asphyxia/genetics*
- Thoracic Diseases/genetics*
- Animals
- Tetrahymena thermophila/genetics*
- Tetrahymena thermophila/growth & development
- Infant, Newborn
- Pedigree
- Carrier Proteins/genetics*
- Humans
- Mutation/genetics*
- Polydactyly/genetics
- PubMed
- 17468754 Full text @ Nat. Genet.
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.
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
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping