Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions

American Journal of Human Genetics

Volumn 78, Issue 4, 2006, Pages 645-658

  Bishop, David F ^a   Johansson, Annika ^a   Phelps, Robert ^a   Shady, Amr A ^a   Ramirez, Maria C M ^a   Yasuda, Makiko ^a   Caro, Andres ^a   Desnick, Robert J ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOLEVULINIC ACID; COMPLEMENTARY DNA; HEMOPROTEIN; PHENOBARBITAL; PORPHYRIN; UROPORPHYRINOGEN III SYNTHASE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONGENITAL ERYTHROPOIETIC PORPHYRIA; ERYTHROCYTE; EXTRAMEDULLARY HEMATOPOIESIS; GENE TARGETING; GENOTYPE; HEMOLYTIC ANEMIA; HUMAN; INBORN ERROR OF METABOLISM; LIGHT EXPOSURE; LIVER MICROSOME; MISSENSE MUTATION; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PHOTOSENSITIVITY; POLYMERASE CHAIN REACTION; PORPHYRIA; PRIORITY JOURNAL; RETICULOCYTOSIS; SKIN MANIFESTATION; SPLEEN;

ANIMALIA; MURINAE;

EID: 33645467818     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/502667     Document Type: Article

References (47)

1. Aizencang G, Sous C, Bishop DF, Warner C, Desnick RJ (2000a) Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression. Genomics 70:223-231
2. Aizencang GI, Bishop DF, Forrest D, Astrin KH, Desnick RJ (2000b) Uroporphyrinogen III synthase: an alternative promoter controls erythroid-specific expression in the murine gene. J Biol Chem 275:2295-2304
3. Anderson KE, Sassa S, Bishop DF, Desnick RJ (2001) Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. Vol 2. McGraw-Hill, New York, pp 2991-3062
4. Battersby AR, Fookes CJR, Matcham GWJ, McDonald E (1980) Biosynthesis of the pigments of life: formation of the macrocycle. Nature 285:17-21
5. Bensidhoum M, Larou M, Lemeur M, Dierich A, Costet P, Raymond S, Daniel JY, de Verneuil H, Ged C (1998) The disruption of mouse uroporphyrinogen III synthase (uros) gene is fully lethal. Transgenics 2:275-280
6. Bhutani LK, Sood SK, Das PK, Mulay DN, Kandhari KC, Deshpande SG (1974) Congenital erythropoietic porphyria: an autopsy report. Arch Dermatol 110:427-431
7. Bickers DR, Frank J (2003) The porphyrias. In: Freedberg I, Eisen A, Wolff K, Austen K, Goldsmith L, Katz S (eds) Fitzpatrick's dermatology in general medicine. Vol 2. McGraw-Hill, New York, pp 1435-1466
8. Bishop DF, Desnick RJ (1982) Assays of the heme biosynthetic enzymes. Enzyme 28:91-93
9. Bishop DF, Johansson A, Desnick RJ (2005) Congenital erythropoietic porphyria: generation and characterization of knock-in mouse models [abstract]. J Inher Metab Dis Suppl 1 28:258
10. Bishop DF, Ramirez MC, Shady A, Desnick RJ (2004) Viable knock-in mouse model of congential erythropoietic porphyria [abstract]. Am J Hum Genet Suppl 74:339
11. 13C N.M.R. evidence for a new intermediate, pre-uroporphyrinogen, in the enzymic transformation of porphobilinogen into uroporphyhrinogens I and III. J Chem Soc Chem Commun 5:202-204
12. Correia MA, Burk RF (1978) Rapid stimulation of hepatic microsomal heme oxygenase in selenium-deficient rats: an effect of phenobarbital. J Biol Chem 253:6203-6210
13. Dawe SA, Peters TJ, Du Vivier A, Creamer JD (2002) Congenital erythropoietic porphyria: dilemmas in present day management. Clin Exp Dermatol 27:680-683
14. Deng C, Zhang P, Harper JW, Elledge SJ, Leder P (1995) Mice lacking p21CIP1/WAF1 undergo normal development, but are defective in G1 checkpoint control. Cell 82:675-684
15. Desnick RJ, Astrin KH (2002) Congenital erythropoietic porphyria: advances in pathogenesis and treatment. Br J Haematol 117:779-795
16. Dupuis-Girod S, Akkari V, Ged C, Galambrun C, Kebaili K, Deybach JC, Claudy A, Geburher L, Philippe N, de Verneuil H, Bertrand Y (2005) Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease). Eur J Pediatr 164:104-107
17. Fontanellas A, Bensidhoum M, Enriquez de Salamanca R, Moruno Tirado A, de Verneuil H, Ged C (1996) A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. Eur J Hum Genet 4:274-282
18. Fritsch C, Bolsen K, Ruzicka T, Goerz G (1997) Congenital erythropoietic porphyria. J Am Acad Dermatol 36:594-610
19. Ged C, Mendez M, Robert E, Lalanne M, Lamrissi-Garcia I, Costet P, Daniel JY, Dubus P, Mazurier F, Moreau-Gaudry F, de Verneuil H (2006) A knock-in mouse model of congenital erythropoietic porphyria. Genomics 87:84-92
20. Geronimi F, Richard E, Lamrissi-Garcia I, Lalanne M, Ged C, Redonnet-Vernhet I, Moreau-Gaudry F, de Verneuil H (2003) Lentivirus-mediated gene transfer of uroporphyrinogen III synthase fully corrects the porphyric phenotype in human cells. J Mol Med 81:310-320
21. Guarini L, Piomelli S, Poh-Fitzpatrick MB (1994) Hydroxyurea in congenital erythropoietic porphyria [letter]. N Engl J Med 330:1091-1092
22. Gupta LK, Singhi MK (2004) Wood's lamp. Indian J Dermatol Venereol Leprol 70:131-135
23. Horiguchi Y, Horio T, Yamamoto M, Tanaka T, Seki Y, Imamura S (1989) Late onset erythropoietic porphyria. Br J Dermatol 121:255-262
24. Janzen EG, Poyer JL, West MS, Crossley C, McCay PB (1994) Study of reproducibility of spin trapping results in the use of C-phenyl-N-tert-butyl nitrone (PBN) for trichloromethyl radical detection in CCl4 metabolism by rat liver microsomal dispersions: biological spin trapping I. J Biochem Biophys Methods 29:189-205
25. Jordan PM, Burton G, Nordlöv H, Schneider MM, Pryde L, Scott AI (1979) Pre-uroporphryinogen: a substrate for uroporphyrinogen III cosynthetase. J Chem Soc Chem Commun 5:204-205
26. Kaufman BM, Vickers HR, Rayne J, Ryan TJ (1967) Congenital erythropoietic porphyria: report of a case. Br J Dermatol 79:210-220
27. Kauppinen R, Glass IA, Aizencang G, Astrin KH, Atweh GF, Desnick RJ (1998) Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells. Mol Genet Metab 65:10-17
28. Kennedy SW, James CA (1993) Improved method to extract and concentrate porphyrins from liver tissue for analysis by high-performance liquid chromatography. J Chromatogr 619:127-132
29. Laird PW, Zijderveld A, Linders K, Rudnicki MA, Jaenisch R, Berns A (1991) Simplified mammalian DNA isolation procedure. Nucleic Acids Res 19:4293
30. Leder A, Daugherty C, Whitney B, Leder P (1997) Mouse ζ- and α-globin genes: embryonic survival, α-thalassemia, and genetic background effects. Blood 90:1275-1282
31. Lim CK, Li FM, Peters TJ (1988) High-performance liquid chromatography of porphyrins. J Chromatogr 429:123-153
32. Lim CK, Peters TJ (1986) High-performance liquid chromatography of uroporphyrin and coproporphyrin isomers. Methods Enzymol 123:383-389
33. Lindberg RL, Porcher C, Grandchamp B, Ledermann B, Burki K, Brandner S, Aguzzi A, Meyer UA (1996) Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria. Nat Genet 12:195-199
34. + cells from peripheral blood after mobilization in a patient with congenital erythropoietic porphyria. Mol Ther 3:411-417
35. Omura T, Sato R (1964) The carbon monoxide-binding pigment of liver microsomes. I. Evidence for its hemoprotein nature. J Biol Chem 239:2370-2378
36. Phelps RG, Daian C, Shibata S, Fleischmajer R, Bona CA (1993) Induction of skin fibrosis and autoantibodies by infusion of immunocompetent cells from tight skin mice into C57BL/6 Pa/Pa mice. J Autoimmun 6:701-718
37. Phillips JD, Jackson LK, Bunting M, Franklin MR, Thomas KR, Levy JE, Andrews NC, Kushner JP (2001) A mouse model of familial porphyria cutanea tarda. Proc Natl Acad Sci USA 98:259-264
38. Piomelli S, Poh-Fitzpatrick MB, Seaman C, Skolnick LM, Berdon WE (1986) Complete suppression of the symptoms of congenital erythropoietic porphyria by long-term treatment with high-level transfusions. N Engl J Med 314:1029-1031
39. Poh-Fitzpatrick MB (1986) The erythropoietic porphyrias. Dermatol Clin 4:291-296
40. Romeo G, Levin EY (1969) Uroporphyrinogen III cosynthase in human congenital erythropoietic porphyria. Proc Natl Acad Sci USA 63:856-863
41. Schenkman JB, Jansson I (1998) Spectral analyses of cytochromes P450. Methods Mol Biol 107:25-33
42. Shaw PH, Mancini AJ, McConnell JP, Brown D, Kletzel M (2001) Treatment of congenital erythropoietic porphyria in children by allogeneic stem cell transplantation: a case report and review of the literature. Bone Marrow Transplant 27:101-105
43. Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, Abeysinghe S, Krawczak M, Cooper DN (2003) Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 21:577-581
44. Sun J, Hoshino H, Takaku K, Nakajima O, Muto A, Suzuki H, Tashiro S, Takahashi S, Shibahara S, Alam J, Taketo MM, Yamamoto M, Igarashi K (2002) Hemoprotein Bach1 regulates enhancer availability of heme oxygenase-1 gene. EMBO J 21:5216-5224
45. Tsai SF, Bishop DF, Desnick RJ (1987) Coupled-enzyme and direct assays for uroporphyrinogen III synthase activity in human erythrocytes and cultured lymphoblasts: enzymatic diagnosis of heterozygotes and homozygotes with congenital erythropoietic porphyria. Anal Biochem 166:120-133
46. Warner CA, Yoo HW, Roberts AG, Desnick RJ (1992) Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene. J Clin Invest 89:693-700
47. Xu W, Warner CA, Desnick RJ (1995) Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene. J Clin Invest 95:905-912