OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome.
OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome.
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DOI：
10.1093/hmg/dds163
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发表时间：
2012-08-01
影响因子：
3.5
通讯作者：
Sun Y
中科院分区：
文献类型：
--
作者：
Luo N;West CC;Murga-Zamalloa CA;Sun L;Anderson RM;Wells CD;Weinreb RN;Travers JB;Khanna H;Sun Y
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.
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