Kaplan, Oktay I. et al. (2019) International Worm Meeting "Functional characterisation of Joubert Syndrome associated CEP-41 and ARMC-9."

Kilic, Atiye, Altunkaynak, Betul, Pir, Mustafa S., Pir, Betul, Cevik, Sebiha, Yenisert, Ferhan, Kaplan, Oktay I.

[International Worm Meeting, 2019]

Joubert syndrome is a rare genetic disorder with an occurrence of approximately 1/100 000 live births. Developmental defects in cerebellum and brainstem are observed in patients with JS, and JS is defined as a neurodevelopmental disorder. Up to now 35 different genes have been linked to JS, and the functions of many of these genes including CEP41 and ARMC9 remain uncharacterised. To elucidate the functions of Joubert Syndrome associated CEP-41 (F42G8.19) and ARMC-9 (F59G1.4) genes, we have generated transgenics containing their own promoter driven GFP labelled constructs and generated/obtained null mutants for these genes. CEP-41 was found to be exclusively expressed in the ciliated sensory neurons, and its localisation is restricted to the middle segment of cilia while ARMC-9 localizes to the entire length of the ciliary axonemes. While null mutants for these genes possess no abnormal cilia structures, a number of double mutant combinations of cep-41 with other ciliopathy genes reveal defects in cilia structure in C. elegans.