DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.

doi:10.1016/j.ajhg.2014.12.002

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Article

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.

American journal of human genetics - 8 Jan 2015

Schueler Markus, Braun Daniela A, Chandrasekar Gayathri, Gee Heon Yung, Klasson Timothy D, Halbritter Jan, Bieder Andrea, Porath Jonathan D, Airik Rannar, Zhou Weibin, LoTurco Joseph J, Che Alicia, Otto Edgar A, Böckenhauer Detlef, Sebire Neil J, Honzik Tomas, Harris Peter C, Koon Sarah J, Gunay-Aygun Meral, Saunier Sophie, Zerres Klaus, Bruechle Nadina Ortiz, Drenth Joost P H, Pelletier Laurence, Tapia-Páez Isabel, Lifton Richard P, Giles Rachel H, Kere Juha, Hildebrandt Friedhelm

Abstract excerpt

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...

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PMID: 25557784
DOI: 10.1016/j.ajhg.2014.12.002
PMCID: PMC4289677

Genes

DCDC2

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