Skip to main content
Log in

Disorders of peroxisome biogenesis: Complementation analysis shows genetic heterogeneity with strong overrepresentation of one group (PEX1 deficiency)

  • Published:
Journal of Inherited Metabolic Disease

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

REFERENCES

  • Braverman N, Steel G, Obie C, et al (1997) Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nature Genetics 15: 369–376.

    Google Scholar 

  • Brul S, Westerveld A, Strijland A, et al (1988) Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis. J Clin Invest 81: 1710–1715.

    Google Scholar 

  • Dodt G, Braverman N, Wong C, et al (1995) Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. Nature Genetics 9: 115–125.

    Google Scholar 

  • McGuiness MC, Moser AB, Moser HW, Watkins PA (1990) Peroxisomal disorders: complementation analysis using beta-oxidation of very long chain fatty acids. Biochem Biophys Res Commun 172: 364–369.

    Google Scholar 

  • Moser AB, Rasmussen M, Naidu S, et al (1995) Phentotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. J Pediatr 127: 13–22.

    Google Scholar 

  • Motley A, Hettema E, Distel B, Tabak H (1994) Differential protein import deficiencies in human peroxisome assembly disorders. J Cell Biol 125: 755–767.

    Google Scholar 

  • Motley AM, Hettema EH, Hogenhout EM, et al (1997) Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. Nature Genetics 15: 377–380.

    Google Scholar 

  • Poll-The B, Skjeldal OH, Stokke O, Poulos A, Demaugre F, Saudubray JM (1989) Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders. Hum Genet 81: 175–181.

    Google Scholar 

  • Portsteffen H, Beyer A, Becker E, et al (1997) Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. Nature Genetics 17: 449–452.

    Google Scholar 

  • Purdue PE, Zhang JW, Skoneczny M, Lazarow PB (1997) Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. Nature Genetics 15: 381–384.

    Google Scholar 

  • Reuber BE, Germain-Lee E, Collins CS, et al (1997) Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. Nature Genetics 17: 445–448.

    Google Scholar 

  • Roscher AA, Hoefler S, Hoefler G, et al (1989) Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis: a complementation study involving cell lines from 19 patients. Pediatr Res 26: 67–72.

    Google Scholar 

  • Shimozawa N, Suzuki Y, Orii T, Moser A, Moser HW, Wanders RJ (1993) Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect. Am J Hum Genet 52: 843–844.

    Google Scholar 

  • Shimozawa N, Suzuki Y, Zhang Z, et al (1998) Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13. Biochem Biophys Res Commun 243: 368–371.

    Google Scholar 

  • Yajima S, Suzuki T, Shimozawa N, et al. (1992) Complementation study of peroxisomedeficient disorders by immunofluorescence staining and characterization of fused cells. Hum Genet 88: 491–499.

    Google Scholar 

  • Wanders RJ, Wiemer EA, Brul S, Schutgens RB, van den Bosch H, Tager JM (1989) Prenatal diagnosis of Zellweger syndrome by direct visualization of peroxisomes in chorionic villus fibroblasts by immunofluorescence microscopy. J Inher Metab Dis 12 (supplement 2): 301–304.

    Google Scholar 

  • Wanders RJA, Schutgens RBH, Barth PG (1995) Peroxisomal disorders: a review. J Neuropathol Exp Neurol 54: 726–739.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Wanders, R.J.A., Mooijer, P.A.W., Dekker, C. et al. Disorders of peroxisome biogenesis: Complementation analysis shows genetic heterogeneity with strong overrepresentation of one group (PEX1 deficiency). J Inherit Metab Dis 22, 314–318 (1999). https://doi.org/10.1023/A:1005504104541

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1023/A:1005504104541

Keywords

Navigation