Nature Genetics
36, 989 - 993 (2004)
Published online: 15 August 2004; | doi:10.1038/ng1414
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndromeYanli Fan, Muneer A Esmail, Stephen J Ansley, Oliver E Blacque, Keith Boroevich, Alison J Ross, Susan J Moore, Jose L Badano, Helen May-Simera, Deanna S Compton, Jane S Green, Richard Alan Lewis, Mieke M van Haelst, Patrick S Parfrey, David L Baillie, Philip L Beales, Nicholas Katsanis, William S Davidson
& Michel R LerouxSupplementary Fig. 1 (pdf 416K)
Conservation of mutated residues in ARL6 proteins and pedigree analyses. Supplementary Video 1 (avi 2M)
GFP-tagged ARL-6/BBS-3 undergoes anterograde and retrograde transport along ciliary axonemes. Shown in Videos 1−3 are one set of amphid cilia in the head (Video 1), one set of phasmid cilia in the tail (Video 2) and the ASER amphid cilium (Video 3) of worms expressing either a translational bbs-3:gfp transgene (Videos 1 and 2) or a transcriptional gcy-5p:gfp transgene (Video 3). GFP-tagged BBS-3 accumulates at the base of cilia (transition zones) and undergoes anterograde and retrograde transport along the ciliary axonemes (Videos 1 and 2). In contrast, the control worms (Video 3) show that although GFP alone localizes to the ciliary axoneme and accumulates at the transition zone of the ASER neuron, it does not undergo detectable transport (anterograde or retrograde) along the ciliary axoneme. Note that the ciliary axonemes extend upwards from the transition zones in Videos 1 and 3, and extend downwards from the transition zones in Video 2. Note also that Videos 1−3 are shown in real-time (i.e., 2 frames per second, where each frame was captured at 500 msec exposure). For further visual clarity of the anterograde and retrograde movement of GFP-tagged BBS-3 along the ciliary axonemes, we also show Videos 1−3 at a 3 real-time rate (Videos 4−6; note that Videos 4, 5 and 6 correspond to Videos 1, 2 and 3, respectively). Supplementary Video 2 (avi 5M) Supplementary Video 3 (avi 3M) Supplementary Video 4 (avi 1M) Supplementary Video 5 (avi 2M) Supplementary Video 6 (avi 1M)
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