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 journalArticle

9 Citations (Scopus)

Abstract

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)
JournalAmerican Journal of Physiology - Renal Physiology
Volume273
Issue number5 42-5
StatePublished - 1997

Fingerprint

Oculocerebrorenal Syndrome
Organism Cloning
Complementary DNA
Rabbits
Kidney
Reverse Transcription
Kidney Medulla
Kidney Cortex
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Polymerase Chain Reaction
Aptitude
Nephrons
Intellectual Disability
Cataract
Chronic Kidney Failure
Renal Insufficiency
Extremities
Clone Cells
Amino Acids
Mutation

Keywords

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

ASJC Scopus subject areas

  • Physiology
  • Physiology (medical)

Cite this

cDNA cloning and localization of OCRL-1 in rabbit kidney. / Erb, Brian C.; Velázquez, Heino; Gisser, Monique; Shugrue, Christine A.; Reilly, Robert F.

In: American Journal of Physiology - Renal Physiology, Vol. 273, No. 5 42-5, 1997.

Research output: Contribution to journalArticle

Erb, BC, Velázquez, H, Gisser, M, Shugrue, CA & Reilly, RF 1997, 'cDNA cloning and localization of OCRL-1 in rabbit kidney', American Journal of Physiology - Renal Physiology, vol. 273, no. 5 42-5.
Erb, Brian C. ; Velázquez, Heino ; Gisser, Monique ; Shugrue, Christine A. ; Reilly, Robert F. / cDNA cloning and localization of OCRL-1 in rabbit kidney. In: American Journal of Physiology - Renal Physiology. 1997 ; Vol. 273, No. 5 42-5.
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