Molecular basis of congenital erythropoietic porphyria: Mutations in the human uroporphyrinogen III synthase gene

Human Mutation

Volumn 7, Issue 3, 1996, Pages 187-192

  Xu, Weiming ^a   Astrin, Kenneth H ^a   Desnick, Robert J ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Congenital erythropoietic porphyria; Gunther disease; Heme biosynthesis; Uroporphyrinogen III cosynthase

Indexed keywords

COMPLEMENTARY DNA; HEME; MESSENGER RNA; UROPORPHYRINOGEN III SYNTHASE;

ADOLESCENT; ADULT; ALLELE; ALTERNATIVE RNA SPLICING; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CONGENITAL ERYTHROPOIETIC PORPHYRIA; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; INBORN ERROR OF METABOLISM; INFANT; MALE; MOLECULAR GENETICS; NEWBORN; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; ALLELES; CHILD; CHILD, PRESCHOOL; CLONING, MOLECULAR; ESCHERICHIA COLI; FEMALE; GENOTYPE; HEME; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PORPHYRIA, ERYTHROPOIETIC; UROPORPHYRINOGEN III SYNTHETASE;

PROKARYOTA;

EID: 0029928277     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)7:3<187::AID-HUMU1>3.0.CO;2-8     Document Type: Article

References (14)

1. Astrin KH, Warner CA, Yoo HW, Goodfellow PJ, Tsai SF, Desnick RJ (1991) Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25 -q26.3. Hum Genet 87:18-22.
2. Barker DF, Shafer M, White R (1984) Restriction sites containing CpG show a higher frequency of polymorphism in human DNA. Cell 36:131-138.
3. Battersby AR, Fookes CJR, Gustafson-Potter KE, McDonald E, Matcham GWJ (1982a) Biosynthesis of porphyrins and related macrocycles. Part 18. Proof by spectroscopy and synthesis that unrearranged hydroxymethylbilane is the product from deaminase and substrate for cosynthase in the biosynthesis of uroporphyrinogen III. J Chem Soc Perkin Trans 1:2427-2444.
4. Battersby AR, Fookes CJR, Gustafson-Potter KE, McDonald E, Matcham GWJ (1982b) Biosynthesis of porphyrins and related macrocycles. Part 17. Chemical and enzymatic transformation of isomeric aminomethylbilanes into uroporphyrinogens: Proof that unrearranged bilane is the preferred enzymatic substrate and detection of a transient intermediate. J Chem Soc Perkin Trans 1:2413-2426.
5. Bensidhoum M, Ged CM, Poirier C, Guénet J-L, and de Verneuil H (1994) The cDNA sequence of mouse uroporphyrinogen III synthase and assignment to mouse chromosome 7. Mamm Genome 5, 728-730.
6. Bickers DR, Pathak MA (1987) The Porphyrias. In Fitzpatrick TB, Eisen AZ, Wolff K, Freedberg IM, Austen KF (eds): Dermatology in General Medicine. New York: McGraw-Hill, pp 1679-1680.
7. Boulechfar S, Suva VD, Deybach JC, Nordmann Y, Grandchamp B, Verneuil HD (1992) Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. Hum Genet 88:320-324.
8. Cooper DN, Krawczak (1990) The mutational spectrum of single base-pair substitutions causing human genetic disease: Patterns and predictions. Hum Genet 85:55-74.
9. de Verneuil H, Deybach JC, Grandchamp B, Nordmann Y (1989) Coexistence of two point mutations in the uroporphyrinogen III synthase gene in one case of congenital erythropoietic porphyria. Blood 74:105A (abst).
10. Warner CA, Yoo HW, Tsai SF, Roberts AG, Desnick RJ (1990) Congenital erythropoietic porphyria: Characterization of the genomic structure and identification of mutations in the uroporphyrinogen III synthase gene. Am J Hum Genet 47:A83.
11. Warner CA, Yoo HW, Roberts AG, Desnick RJ (1992a) Congenital erythropoietic porphyria: Identification and expression of exonic mutations in the uroporphyrinogen III synthase gene. J Clin Invest 89:693-700.
12. Warner CA, Poh-Fitzpatrick MB, Zaider EF, Tsai S-F, Desnick RJ (1992b) Congenital erythropoietic porphyria: A mild variant with low uroporphyrin I levels due to a missense mutation (A66V) encoding residual uroporphyrinogen III synthase activity. Arch Dermatol 128:1243-1248.
13. Xu W, Warner CA, Desnick RJ (1995a) Congenital erythropoietic porphyria: Identification and expression of ten mutations in the uroporphyrinogen III synthase gene. J Clin Invest 95:905-912.
14. Xu W, Kozak AC, Desnick RJ (1995b) Uroporphyrinogen III synthase: Molecular cloning, nucleotide sequence, expression of a mouse full-length cDNA and its regional assignment to mouse chromosome 7. Genomics 26:556-562.