Identification of pahx, a refsum disease gene

Nature Genetics

Volumn 17, Issue 2, 1997, Pages 189-

  Mihalik1, Stephanie J ^a   Morrell, James C ^a   Kim, Do ^a   Sacksteder, Katherine A ^a   Watkins, Paul A ^a   Gould, Stephen J ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CELL RECEPTOR; COMPLEMENTARY DNA; MIXED FUNCTION OXIDASE; PEROXISOMAL TARGETING SIGNAL 2 RECEPTOR; PHYH PROTEIN, HUMAN; PHYH PROTEIN, MOUSE; PRIMER DNA;

AMINO ACID SEQUENCE; ANIMAL; ARTICLE; CHROMOSOME 10; CHROMOSOME MAP; COMPARATIVE STUDY; GENE EXPRESSION; GENETICS; HOMOZYGOTE; HUMAN; METABOLISM; MICROBODY; MOLECULAR GENETICS; MOUSE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; REFSUM DISEASE; SEQUENCE HOMOLOGY; SPECIES DIFFERENCE;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 10; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA, COMPLEMENTARY; GENE EXPRESSION; HOMOZYGOTE; HUMANS; MICE; MICROBODIES; MIXED FUNCTION OXYGENASES; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; RECEPTORS, CYTOPLASMIC AND NUCLEAR; REFSUM DISEASE; SEQUENCE HOMOLOGY, AMINO ACID; SPECIES SPECIFICITY;

EID: 84984767118     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1097-185     Document Type: Article

References (24)

1. Steinberg, D. Refsum disease, in The Metabolic and Molecular Bases of Inherited Disease (eds Scriver, C.R., Beaudet, A.L., Sly, W.S. & Valle, D.) 2351-2369 (McGraw-Hill, New York, 1995).
2. Mihalik, S.J., Rainville, A.M. & Watkins, P.A. Phytanic acid alpha-oxidation in rat liver peroxisomes: Production of alpha-hydroxyphytanoyl-CoA and formate is enhanced by dioxygenase cofactors. Eur. J. Biochem. 232, 545-551 (1995).
3. Lazarow, P.B. & Moser, H.W. Disorders of peroxisome biogenesis, in The Metabolic and Molecular Bases of Inherited Disease (eds Scriver, C.R., Beaudet, A.L, Sly, W.S. & Valle, D.) 2287-2324 (McGraw-Hill, New York, 1995).
4. Braverman, N. et al. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nature Genet. 15, 369-376 (1997).
5. Nadal, N. et al. Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family. Hum. Mol. Genet. 4, 1963-1966 (1995).
6. Subramani, S. Protein import into peroxisomes and biogenesis of the organelle, Annu. Rev. Cell Biol. 9, 445-478 (1993).
7. Swinkels, B.W., Gould, S.J., Bodnar, A.G., Rachubinski, R.A. & Subramani, S. A novel, cleavable peroxisomal targeting signal at the amino-terminusof the rat 3-ketoacyl-CoAthiolase. EMBO J. 10, 3255-3262 (1991).
8. de Vet, E.C., Zomer, A.W., Lahaut, G.J. & van den Bosch, H. Polymerase chain reaction-based cloning of alkyl-dihydroxyacetonephosphate synthase complementary DNA from guinea pig liver. J. Biol. Chem. 272, 798-803 (1997).
9. Hijikata, M., Ishii, N., Kagamiyama, H., Osumi, T. & Hashimoto, T. Structural analysis of cDNA for rat peroxisomal 3-ketoacyl CoA thiolase. J. Biol. Chem. 262, 8151-8158 (1987).
10. Jansen, G.A., Wanders, R.J.A., Watkins, P.A. & Mihalik, S.J. Phytanoyl-coenzyme A hydroxylase deficiency—the enzyme defect in Refsum’s disease (letter). N. Engl. J. Med. 337, 133-134 (1997).
11. Wanders, R.J.A., Schumacher, H., Heikoop, J., Schutgens, R.B.H. & Tager, J.M. Human dihydroxyacetonephosphate acyltransferase deficiency: A new peroxisomal disorder. J. Inherited Metab. Dis. 15, 389-391 (1992).
12. Slawecki, M. et al. Identification of three distinct peroxisomal protein import defects in patients with peroxisomal biogenesis disorders. J. CellSci. 108, 1817-1829 (1995).
13. Motley, A., Hettema, E., Distel, B. &Tabak, H. Differential protein import deficiencies in human peroxisome assembly disorders. J. Cell Biol. 125, 755-767 (1994).
14. Gould, S.J., Krisans, S., Keller, G.A. & Subramani, S. Antibodies directed against the peroxisomal targeting signal of firefly luciferase recognize multiple mammalian peroxisomal proteins. J. Cell Biol. 110, 27-34(1990).
15. Fields, S. & Song, O. A novel genetic system to detect protein-protein interactions (letter). Wature 340, 245-246 (1989).
16. Watkins, P.A., Howard, A.E., Gould, S.J., Avigan, J. & Mihalik, S.J. Phytanic acid activation in rat liver peroxisomes is catalyzed by long-chain acyl-CoA synthetase. J LipidRes. 37, 2288-2295 (1996).
17. Hudson, T.J. et al. An STS-based map of the human genome. Science 270, 1945-1954 (1995).
18. Tranchant, C. et al. A new peroxisomal disease with impaired phytanic and pipecolic acid oxidation. NeurologyAS, 2044-2048 (1993).
19. Reuber, B.E., Karl, C, Reimann, Mihalik, S.J., & Dodt, G. Cloning and functional expression of a mammalian gene for a peroxisomal sarcosine oxidase. J. Biol. Chem. 272, 6766-6776(1997).
20. Altschul, S.F., Gish, W., Miller, W, Myers, E.W. & Lipman, D.J. Basic local alignment search tool. J. Mol. Biol. 215, 403-410 (1990).
21. Yahraus, T. et al. The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. EMBOJ. 15, 2914-2923 (1996).
22. Chang, C.-C, Lee, W.-H., Moser, H., Valle, D. & Gould, S.J. Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders. Nature Genet 15, 385-388 (1997).
23. Evan, G.E., Lewis, G.K., Ramsay, G. & Bishop, J.M. Isolation of monoclonal antibodies specific for human c-myc proto-oncogene product. Mol. Cell. Biol. 5, 3610-3616 (1985).
24. Michaud, J. et al. Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine-d-aminotransferase gene. Genomics 13, 389-394 (1992).