Ontology highlight
ABSTRACT:
SUBMITTER: Schueler M
PROVIDER: S-EPMC4289677 | biostudies-literature | 2015 Jan
REPOSITORIES: biostudies-literature
Schueler Markus M Braun Daniela A DA Chandrasekar Gayathri G Gee Heon Yung HY Klasson Timothy D TD Halbritter Jan J Bieder Andrea A Porath Jonathan D JD Airik Rannar R Zhou Weibin W LoTurco Joseph J JJ Che Alicia A Otto Edgar A EA Böckenhauer Detlef D Sebire Neil J NJ Honzik Tomas T Harris Peter C PC Koon Sarah J SJ Gunay-Aygun Meral M Saunier Sophie S Zerres Klaus K Bruechle Nadina Ortiz NO Drenth Joost P H JP Pelletier Laurence L Tapia-Páez Isabel I Lifton Richard P RP Giles Rachel H RH Kere Juha J Hildebrandt Friedhelm F
American journal of human genetics 20141231 1
Nephronophthisis-related ciliopathies (NPHP-RC) are recessive diseases characterized by renal dysplasia or degeneration. We here identify mutations of DCDC2 as causing a renal-hepatic ciliopathy. DCDC2 localizes to the ciliary axoneme and to mitotic spindle fibers in a cell-cycle-dependent manner. Knockdown of Dcdc2 in IMCD3 cells disrupts ciliogenesis, which is rescued by wild-type (WT) human DCDC2, but not by constructs that reflect human mutations. We show that DCDC2 interacts with DVL and DC ...[more]