The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase
| Autor: | Olivos Im, Ichiro Okabe, David L. Nelson, Robert L. Nussbaum, O. Attree, L. C. Bailey, Richard A. Lewis, McInnes Rr |
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| Rok vydání: | 1992 |
| Předmět: |
Male
Yeast artificial chromosome X Chromosome Genetic Linkage Oculocerebrorenal syndrome Molecular Sequence Data Chromosomal translocation Locus (genetics) Synaptojanin Biology Translocation Genetic Sequence Homology Nucleic Acid medicine Humans Amino Acid Sequence X chromosome Gene Library Genetics Multidisciplinary Autosome Base Sequence Inositol Polyphosphate 5-Phosphatases Proteins DNA medicine.disease Phosphoric Monoester Hydrolases Oculocerebrorenal Syndrome Female OCRL |
| Zdroj: | Nature. 358:239-242 |
| ISSN: | 1476-4687 0028-0836 |
| DOI: | 10.1038/358239a0 |
| Popis: | LOWE'S oculocerebrorenal syndrome1–3 (OCRL) is a human X-linked developmental disorder of unknown pathogenesis4–8 and has a pleiotropic phenotype affecting the lens, brain and kidneys. The OCRL locus has been mapped to Xq25-q26 by linkage9–11 and by finding de novoX; autosome translocations at Xq25-q26 in two unrelated females with OCRL12,13. Here we use yeast artificial chromosomes with inserts that span the X chromosomal breakpoint from a female OCRL patient in order to isolate complementary DNAs for a gene that is interrupted by the translocation. We show that the transcript is absent in both female OCRL patients with X; autosome translocations and that it is absent or abnormally sized in 9 of 13 unrelated male OCRL patients with no detectable genomic rearrangement. The open reading frame encodes a new protein with 71% similarity to human inositol polyphosphate-5-phosphatase. Our results suggest that OCRL may be an inborn error of inositol phosphate metabolism. |
| Databáze: | OpenAIRE |
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