Restless legs syndrome (RLS) and Tourette syndrome (TS) are two common movement disorders. RLS is a movement and sleep disorder with 10% prevalence in the general population and it is characterized by unpleasant sensations in the legs and an uncontrollable urge to move them. TS is a rare neurodevelopmental disorder that is characterized by physical tics. Two genome wide association studies have associated a common gene, BTBD9, to these two diseases. BTBD9 is a protein of unknown function that contains two highly conserved protein domains, a BTB/POZ domain and a BACK domain. The inrton variances in the BTB/POZ domain of BTBD9 are associated with RLS and TS. BTBD9 has several homologous proteins across species, including C05C8.6 in C. elegans, with a 40% protein homology. C05C8.6 is located on chromosome V and it consists of 5 exons and 4 intron, and it is expressed in the head neurons, intestine, pharynx and seam cells (Baillie's lab, unpublished data). The function of C05C8.6, like BTBD9, is unknown. A strain of worms containing a knockout of this gene,
tm3719, has been previously generated by the National BioResource Project through chemical mutagenesis by removing part of the second intron and second exon. After backcrossing three times with the wildtype N2 worm, we have found that the mutant strain have an egg-laying deficiency, hypoactivity, and higher rate of change in direction. The mutant worms' synaptic plasticity and chemotaxis will be further characterized. These findings will help to develop an understanding of the function of BTBD9 and potentially the underlying pathophysiology of RLS and TS.