Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function.

Journal Article

Reception and interpretation of environmental stimuli is critical for the survival of all organisms. Here, we show that the ablation of BBS1 and BBS4, two genes mutated in Bardet-Biedl syndrome and that encode proteins that localize near the centrioles of sensory neurons, leads to alterations of s.c. sensory innervation and trafficking of the thermosensory channel TRPV1 and the mechanosensory channel STOML3, with concomitant defects in peripheral thermosensation and mechanosensation. The thermosensory phenotype is recapitulated in Caenorhabditis elegans, because BBS mutants manifest deficient thermosensory responses at both physiological and nociceptive temperatures and defective trafficking of OSM-9, a polymodal sensory channel protein and a functional homolog of TRPV1 or TRPV4. Our findings suggest a hitherto unrecognized, but essential, role for mammalian basal body proteins in the acquisition of mechano- and thermosensory stimuli and highlight potentially clinical features of ciliopathies in humans.

Full Text

Duke Authors

Cited Authors

  • Tan, PL; Barr, T; Inglis, PN; Mitsuma, N; Huang, SM; Garcia-Gonzalez, MA; Bradley, BA; Coforio, S; Albrecht, PJ; Watnick, T; Germino, GG; Beales, PL; Caterina, MJ; Leroux, MR; Rice, FL; Katsanis, N

Published Date

  • October 30, 2007

Published In

Volume / Issue

  • 104 / 44

Start / End Page

  • 17524 - 17529

PubMed ID

  • 17959775

International Standard Serial Number (ISSN)

  • 0027-8424

Digital Object Identifier (DOI)

  • 10.1073/pnas.0706618104

Language

  • eng

Conference Location

  • United States