title: cDNA cloning and localization of OCRL-1 in rabbit kidney.
abstract: The oculocerebrorenal syndrome of Lowe (OCRL) is a hereditary multisystem disorder characterized by congenital cataract, mental retardation, renal tubular dysfunction, and progressive renal insufficiency. Tubular abnormalities include proximal tubular dysfunction, a distal acidification defect, and a possible impairment of urinary concentrating ability. The most important renal manifestation of Lowe's syndrome is a progressive loss of kidney function associated with a glomerular lesion that progresses to end-stage renal disease in either the third or fourth decade. The gene responsible for Lowe's syndrome, OCRL-1, was recently identified by positional cloning, and mutations were demonstrated in many affected patients. In the present study reverse transcription-polymerase chain reaction (RT-PCR) was used to clone a partial-length cDNA encoding rabbit renal OCRL-1. There is a high degree of similarity between rabbit and human sequences, with nucleotide and amino acid identities of 92% and 97%, respectively. Northern analysis identified a 5.4-kb transcript that is expressed in both rabbit kidney cortex and medulla. Isolated nephron-segment RT-PCR showed that OCRL-1 is expressed in all segments studied: the glomerulus, proximal tubule, medullary and cortical thick ascending limb, distal convoluted tubule, connecting tubule, cortical collecting duct, and outer medullary collecting duct. Defective OCRL-1 expression in these regions may play a pathogenetic role in the renal manifestations of this syndrome.
authors.affiliation: Department of Medicine, Yale University School of Medicine, New Haven, Connecticut 06520-8047, USA.
authors.forename: B C
authors.initials: BC
authors.lastname: Erb
authors.forename: H
authors.initials: H
authors.lastname: Velázquez
authors.forename: M
authors.initials: M
authors.lastname: Gisser
authors.forename: C A
authors.initials: CA
authors.lastname: Shugrue
authors.forename: R F
authors.initials: RF
authors.lastname: Reilly
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D017931:DNA Primers; D006801:Humans; D007668:Kidney / Q000378:metabolism*; D008969:Molecular Sequence Data; D009399:Nephrons / Q000378:metabolism; D009800:Oculocerebrorenal Syndrome / Q000235:genetics; D009928:Organ Specificity; D010744:Phosphoric Monoester Hydrolases; D016133:Polymerase Chain Reaction; D014176:Protein Biosynthesis; D011506:Proteins / Q000737:chemistry / Q000235:genetics; D011817:Rabbits; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid
chemical_list: D017931:DNA Primers; D011506:Proteins; D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human