The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex.
The oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder affecting the lens, kidney, and CNS. The predicted amino acid sequence of the OCRL gene, OCRL-1, was used to develop antibodies against the OCRL-1 protein. Western blot analysis using affinity-purified serum against the amino terminus of the OCRL-1 gene product (ocrl-1) demonstrates a single protein of 105 kD in fibroblasts of a normal individual that is absent in fibroblasts of an OCRL patient who lacks OCRL-1 transcript. A single protein with the same electrophoretic mobility is found by western analysis in various human cultured cell lines, and approximately the same size protein is also found in all mouse tissues tested. Northern analysis of various human and mouse tissues demonstrate that OCRL-1 transcript is expressed in nearly all tissues examined. By immunofluorescence, the ocrl-1 antibody stains a juxtanuclear region in normal fibroblast cells, while no specific staining is evident in the OCRL patient who produces no transcript. Colocalization of the ocrl-1 protein to the Golgi complex was demonstrated using a known monoclonal antibody against a Golgi-specific coat protein, beta-COP (beta coatomer protein).
Olivos-Glander
I M
IM
Department of Genetics, University of Pennsylvania, Philadelphia.
Jänne
P A
PA
Nussbaum
R L
RL
D000328:Adult; D000818:Animals; D001483:Base Sequence; D015152:Blotting, Northern; D019084:Fluorescent Antibody Technique, Indirect; D006056:Golgi Apparatus / Q000737:chemistry*; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D009800:Oculocerebrorenal Syndrome / Q000235:genetics*; D010744:Phosphoric Monoester Hydrolases; D011506:Proteins / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics
D011506:Proteins; D012333:RNA, Messenger; D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human; C489581:Ocrl protein, mouse