cDNA cloning and localization of OCRL-1 in rabbit kidney

Brian C. Erb, Heino Velázquez, Monique Gisser, Christine A. Shugrue, Robert F. Reilly

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


The oculocerebrorenal syndrome of Lowe (OCRL) is a hereditary multisystem disorder characterized by congenital cataracts, 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.

Original languageEnglish (US)
Pages (from-to)F790-F795
JournalAmerican Journal of Physiology - Renal Physiology
Issue number5 42-5
StatePublished - 1997


  • Fanconi's syndrome
  • Inositol polyphosphate-5- phosphatase
  • Lowe's syndrome
  • Nephron segment reverse transcription-polymerase chain reaction

ASJC Scopus subject areas

  • Physiology
  • Urology


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