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Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders

Nature Genetics volume 9, pages 115–125 (1995)Cite this article

Abstract

The peroxisome biogenesis disorders (PBDs) are lethal recessive diseases caused by defects in peroxisome assembly. We have isolated PXR1, a human homologue of the yeast P. pastoris PAS8 (peroxisome assembly) gene. PXR1, like PAS8, encodes a receptor for proteins with the type–1 peroxisomal targeting signal (PTS1). Mutations in PXR1 define complementation group 2 of PBDs and expression of PXR1 rescues the PTS1 import defect of fibroblasts from these patients. Based on the observation that PXR1 exists both in the cytosol and in association with peroxisomes, we propose that PXR1 protein recognizes PTS1 –containing proteins in the cytosol and directs them to the peroxisome.

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Author notes

  1. Stephen J. Gould

    Present address: Department of Biological Chemistry, The Johns Hopkins University School of Medicine, Baltimore, Maryland, 21205, USA

Authors and Affiliations

  1. The Kennedy Krieger Research Institute, The Johns Hopkins University School of Medicine, Baltimore, Maryland, 21205, USA

    Gabriele Dodt, Candice Wong, Ann Moser, Hugo W. Moser & Stephen J. Gould

  2. Departments of Cell Biology and Anatomy, The Johns Hopkins University School of Medicine, Baltimore, Maryland, 21205, USA

    Gabriele Dodt, Candice Wong & Stephen J. Gould

  3. Departments of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland, 21205, USA

    Nancy Braverman & David Valle

  4. Departments of Neurology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, 21205, USA

    Hugo W. Moser & Paul Watkins

  5. Departments of Howard Hughes Medical Institute, The Johns Hopkins University School of Medicine, Baltimore, Maryland, 21205, USA

    David Valle

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Dodt, G., Braverman, N., Wong, C. et al. Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. Nat Genet 9, 115–125 (1995). https://doi.org/10.1038/ng0295-115

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