Fig. 5
From: KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome
K04F10.2 mutant worms possess defects in ciliary MTs. a The K04F10.2 gene showing the gk112869 nonsense mutation in exon 3 and the tm1830 deletion (1257–1603) spanning exon 4 and intron 4. Boxes define exons. Numbers indicate genomic positions relative to the translational start codon. b Transmission electron microscopy (TEM) of amphid channel cilia in age-matched (early day 1 adult) wild-type (WT) and K04F10.2(tm1810) worms. Wild type channels (pores) contain ten ciliary axonemes, each possessing a distal segment (DS) containing singlet A-tubules, a middle segment (MS) containing doublet A/B tubules, a transition zone (TZ) with Y-link connectors, and a periciliary membrane compartment (PCMC). Images and graph show that tm1810 mutants display a reduced number of distal segment outer singlet A-tubules; also, ectopic MT doublets are sometimes observed in the distal segment. Note that wild-type early day 1 adults do not possess a full complement of nine distal segment A-tubules. Schematics show the ultrastructural phenotypes (only three cilia shown for simplicity in longitudinal cartoons) and the arrowheads indicate approximate regions of pore where imaged sections were captured. Distal segment images shown at low (first and third images) and high (second and fourth images) magnifications. Scale bars, 200 nm (low magnification images), 100 nm (high magnification images). *p < 0.05 (t-test versus WT)