Presentation/Session Information

Session Information

Session Title: Cytoskeleton and Trafficking Session Type: Parallel
Session Location: Northwest Auditorium Session Time: Fri, Jun 26 8:30AM - 11:30AM

Presentation Information

Program Number: 116 Presentation Time: 9:18AM - 9:30AM

Presentation Content

CDKL-1, a protein related to the human CDKL5 kinase implicated in Rett syndrome and epilepsy, is a novel transition zone protein that controls cilium formation.Kwangjin Park, Chunmei Li, Michel Leroux. Simon Fraser University, Burnaby, BC, CANA

The surfaces of most cells in humans have small antenna-like structures termed cilia. There are two types of cilia: motile cilia and non-motile cilia. Motile cilia facilitate cell locomotion or fluid flow and non-motile cilia mediate cellular signaling, critically important for development. We are studying a specialized subcompartment of cilia, called the ciliary transition zone (TZ). The role of the TZ is to create a ‘barrier’ that controls the protein composition of the cilium, a function that is critical for the ability of the cilium to capture and transduce signals. In this study, we identified cyclin-dependent kinase-like 1 (CDKL-1) as a novel TZ protein. To our surprise, CDKL-1 is not associated with the formation of the TZ barrier, but instead, regulates ciliary length. We observe elongated cilia in cdkl-1 null ADL neurons, and shorter ADL cilia when CDKL-1 is overexpressed, indicating the correct level of this kinase is crucial for cilium length control. Mutations of human CDKL5, one of five CDKL family members, often cause human neurological disorders such as Rett syndrome and epilepsy, and most mutations are located in the conserved kinase domain of CDKL family members. We therefore introduced three of these mutations into C. elegans CDKL-1 (the only C. elegans CDKL family member). All CDKL-1 variants harboring the mutations failed to localize to the TZ, implicating that CDKL5 mutations may result in ciliary dysfunction in humans. Altogether, our results suggest that CDKL family members are ciliary proteins that regulate ciliary length and their dysfunction may lead to neurological phenotypes in humans.




Please note: Abstract shown here should NOT be cited in bibliographies. Material contained herein should be treated as personal communication and should be cited as such only with the consent of the author.

The Genetics Society of America
9650 Rockville Pike, Bethesda, MD
Phone: 301-634-7300, Fax: 301-634-7079
Questions and Comments: society@genetics-gsa.org