Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy

• Published in: American journal of human genetics Vol. 106; no. 6; pp. 893 - 904
• Main Authors: Cogné, Benjamin, Latypova, Xenia, Senaratne, Lokuliyanage Dona Samudita, Martin, Ludovic, Koboldt, Daniel C., Kellaris, Georgios, Fievet, Lorraine, Le Meur, Guylène, Caldari, Dominique, Debray, Dominique, Nizon, Mathilde, Frengen, Eirik, Bowne, Sara J., Buckley, Reuben M., Aberdein, Danielle, Alves, Paulo C., Barsh, Gregory S., Bellone, Rebecca R., Bergström, Tomas F., Boyko, Adam R., Brockman, Jeffrey A., Casal, Margret L., Castelhano, Marta G., Distl, Ottmar, Dodman, Nicholas H., Ellinwood, N. Matthew, Fogle, Jonathan E., Forman, Oliver P., Garrick, Dorian J., Ginns, Edward I., Häggström, Jens, Harvey, Robert J., Hasegawa, Daisuke, Haase, Bianca, Helps, Christopher R., Hernandez, Isabel, Hytönen, Marjo K., Kaukonen, Maria, Kaelin, Christopher B., Kosho, Tomoki, Leclerc, Emilie, Lear, Teri L., Leeb, Tosso, Li, Ronald H.L., Lohi, Hannes, Longeri, Maria, Magnuson, Mark A., Malik, Richard, Mane, Shrinivas P., Munday, John S., Murphy, William J., Pedersen, Niels C., Rothschild, Max F., Rusbridge, Clare, Shapiro, Beth, Stern, Joshua A., Swanson, William F., Terio, Karen A., Todhunter, Rory J., Warren, Wesley C., Wilcox, Elizabeth A., Wildschutte, Julia H., Yu, Yoshihiko, Cadena, Elizabeth L., Daiger, Stephen P., Bujakowska, Kinga M., Pierce, Eric A., Gorin, Michael, Katsanis, Nicholas, Bézieau, Stéphane, Petersen-Jones, Simon M., Occelli, Laurence M., Lyons, Leslie A., Legeai-Mallet, Laurence, Sullivan, Lori S., Davis, Erica E., Isidor, Bertrand
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 04.06.2020; Elsevier (Cell Press); Elsevier
• Subjects: Amino Acid Sequence; Animals; Cats; Child, Preschool; Cilia - pathology; Ciliopathies - genetics; Ciliopathies - pathology; feline genetics; Female; Genes, Dominant - genetics; Genome-Wide Association Study; hepatic fibrosis; Heterozygote; Humans; KIF3B; kinesin; Kinesin - chemistry; Kinesin - genetics; Kinesin - metabolism; Larva; Life Sciences; Male; Middle Aged; Mutation; Pedigree; Phenotype; Photoreceptor Cells - metabolism; primary cilia; Retina - cytology; Retina - growth & development; Retina - metabolism; Retina - pathology; retinopathy; Rhodopsin - metabolism; whole-exome sequencing; Young Adult; zebrafish; Zebrafish - genetics; Zebrafish - growth & development; feline genetics; KIF3B; retinopathy; primary cilia; kinesin; zebrafish; hepatic fibrosis; whole-exome sequencing

Kinesin-2 enables ciliary assembly and maintenance as an anterograde intraflagellar transport (IFT) motor. Molecular motor activity is driven by a heterotrimeric complex comprised of KIF3A and KIF3B or KIF3C plus one non-motor subunit, KIFAP3. Using exome sequencing, we identified heterozygous KIF3B...