Characterization of X-OCRL, a Xenopus laevis homologue of OCRL-1, the Lowe oculocerebrorenal syndrome candidate gene
- College of William and Mary, Williamsburg, VA (United States)
- National Institutes of Health, Bethesda, MD (United States)
The Lowe oculocerebrorenal syndrome (OCRL) is an X-linked disease characterized by congenital cataract, mental retardation, and renal tubular dysfunction. A candidate cDNA, OCRL-1, was identified by positional cloning and mutations in OCRL-1 have been detected in patients with Lowe syndrome. The OCRL-1 nucleotide sequence encodes a predicted protein of 968 amino acids and shares 51% amino acid identity with a human inositol polyphosphate-5-phosphatase. This suggests that the underlying defect in OCRL may be due to a defect in inositol phosphate metabolism. The isolation of OCRL-1 provides the opportunity to investigate its function through the use of animal model systems. We have isolated a partial cDNA clone encoding an OCRL-1 homologue, X-OCRL, from the South African clawed frog, Xenopus laevis. We used a portion of the human cDNA to screen a Xenopus laevis embryo cDNA library and isolated four positive clones. One clone, 42-5A, is a 650 bp insert with over 75% amino acid identity to the corresponding region of the human OCRL-1 sequence. 42-5A detects messenger RNA in adult Xenopus brain, stomach, small intestine, skin, muscle, lung, blood, and oviduct. X-OCRL messenger RNA is first detected during late gastrula and continues to be expressed throughout Xenopus development. In situ hybridization studies are underway to identify the cellular localization of X-OCRL expression in Xenopus embryos and adult tissues. We are especially interested in characterizing X-OCRL expression during formation of the amphibian lens since congenital cataracts are a constant feature of the human disease.
- OSTI ID:
- 134638
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-1375
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
BASIC STUDIES
GENES
DNA-CLONING
GENE MUTATIONS
DNA SEQUENCING
PATIENTS
SENSE ORGANS DISEASES
UROGENITAL SYSTEM DISEASES
MENTAL DISORDERS
METABOLIC DISEASES
BIOLOGICAL MODELS
DETECTION
INOSITOL
METABOLISM
PHOSPHATES
FROGS
GENETICS
COMPARATIVE EVALUATIONS
HUMAN POPULATIONS
HUMAN X CHROMOSOME
NUCLEOTIDES
AMINO ACIDS
DNA HYBRIDIZATION
PROTEINS