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

Philip L. Beales, Elizabeth Bland, Jonathan L. Tobin, Chiara Bacchelli, Beyhan Tuysuz, Josephine Hill, Suzanne Rix, Chad G. Pearson, Masatake Kai, Jane Hartley, Colin Johnson, Melita Irving, Nursel Elcioglu, Mark Winey, Masazumi Tada, Peter J. Scambler

Research output: Contribution to journalArticle

219 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)727-729
Number of pages3
JournalNature Genetics
Volume39
Issue number6
DOIs
StatePublished - Jun 1 2007
Externally publishedYes

    Fingerprint

ASJC Scopus subject areas

  • Genetics

Cite this

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., & 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. https://doi.org/10.1038/ng2038