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The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase

Nature volume 358, pages 239–242 (1992)Cite this article

Abstract

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.

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Author information

Author notes

  1. Olivier Attree

    Present address: CRSSA, Unite de Biologie Moleculaire, 38702, La Tranche Cedex, Grenoble, France

  2. Ichiro Okabe

    Present address: Department of Pediatrics, Jichi Medical School, Minamikawachi-Machi, Kawachi-Gun, Tochigi-Ken, Japan, 329-04

  3. Robert L. Nussbaum: To whom correspondence should be addressed.

Authors and Affiliations

  1. Department of Human Genetics, University of Pennsylvania School of Medicine, 422 Curie Boulevard, Philadelphia, Pennsylvania, 19104-6145, USA

    Olivier Attree, Isabelle M. Olivos, L. Charles Bailey & Robert L. Nussbaum

  2. Howard Hughes Medical Institute, University of Pennsylvania School of Medicine, 422 Curie Boulevard, Philadelphia, Pennsylvania, 19104-6145, USA

    Ichiro Okabe & Robert L. Nussbaum

  3. Institute for Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA

    David L. Nelson & Richard A. Lewis

  4. Department of Ophthalmology, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA

    Richard A. Lewis

  5. Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, M5G 1X8, Canada

    Roderick R. Mclnnes

  6. CRSSA, Unite de Biologie Moleculaire, 38702, La Tranche Cedex, Grenoble, France

    Ichiro Okabe

Authors
  1. Olivier Attree
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  7. Roderick R. Mclnnes
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  8. Robert L. Nussbaum
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Attree, O., Olivos, I., Okabe, I. et al. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature 358, 239–242 (1992). https://doi.org/10.1038/358239a0

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