Dataset Information


OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome.

ABSTRACT: Oculocerebral renal syndrome of Lowe (OCRL or Lowe syndrome), a severe X-linked congenital disorder characterized by congenital cataracts and glaucoma, mental retardation and kidney dysfunction, is caused by mutations in the OCRL gene. OCRL is a phosphoinositide 5-phosphatase that interacts with small GTPases and is involved in intracellular trafficking. Despite extensive studies, it is unclear how OCRL mutations result in a myriad of phenotypes found in Lowe syndrome. Our results show that OCRL localizes to the primary cilium of retinal pigment epithelial cells, fibroblasts and kidney tubular cells. Lowe syndrome-associated mutations in OCRL result in shortened cilia and this phenotype can be rescued by the introduction of wild-type OCRL; in vivo, knockdown of ocrl in zebrafish embryos results in defective cilia formation in Kupffer vesicles and cilia-dependent phenotypes. Cumulatively, our data provide evidence for a role of OCRL in cilia maintenance and suggest the involvement of ciliary dysfunction in the manifestation of Lowe syndrome.


PROVIDER: S-EPMC3392109 | BioStudies | 2012-01-01T00:00:00Z

REPOSITORIES: biostudies

Similar Datasets

2017-01-01 | S-EPMC5665444 | BioStudies
2019-01-01 | S-EPMC6548226 | BioStudies
2017-01-01 | S-EPMC5407733 | BioStudies
2013-01-01 | S-EPMC3689662 | BioStudies
2018-01-01 | S-EPMC5793168 | BioStudies
2019-01-01 | S-EPMC6743453 | BioStudies
2019-01-01 | S-EPMC6732312 | BioStudies
2012-01-01 | S-EPMC3323734 | BioStudies
2007-01-01 | S-EPMC2025683 | BioStudies
2011-01-01 | S-EPMC3242071 | BioStudies