Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP)

Translational Research

Volumn 149, Issue 2, 2007, Pages 85-91

  Phillips, John D ^a   Whitby, Frank G ^a   Stadtmueller, Beth M ^a   Edwards, Corwin Q ^a   Hill, Christopher P ^a   Kushner, James P ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GLYCINE; UROPORPHYRINOGEN DECARBOXYLASE;

ARTICLE; CASE REPORT; CRYSTAL STRUCTURE; ENZYME ACTIVE SITE; ENZYME ACTIVITY; GENE MUTATION; HEPATOERYTHROPOIETIC PORPHYRIA; HUMAN; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PHLEBOTOMY; PREGNANCY; PRESCHOOL CHILD; PRIORITY JOURNAL; WILD TYPE;

EID: 33846199078     PISSN: 19315244     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.trsl.2006.08.006     Document Type: Article

References (21)

1. Anderson K.E., Sassa S., Bishop D.F., and Desnick R.J. Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Disease. 8th ed (2001), McGraw-Hill, New York 2991-3062
2. Ford R.E., Ou C.N., and Ellefson R.D. Liquid-chromatographic analysis for urinary porphyrins. Clin Chem 27 (1981) 397-401
3. Phillips J.D., and Kushner J.P. Measurement of uroporphyrinogen decarboxylase activity. In: Maines M.D., Costa L.G., Reed D.J., Sassa S., and Sipes I.G. (Eds). Current Protocols in Toxicology (1999), John Wiley & Sons, Inc, New York 8.4.1-8.4.13
4. Heller S., Labbe R., and Nutter J. A simplified assay for porphyrins in whole blood. Clin Chem 17 (1971) 525-528
5. Bulaj Z.J., Ajioka R.S., Phillips J.D., LaSalle B.A., Jorde L.B., Griffen L.M., et al. Disease-related conditions in relatives of patients with hemochromatosis. N Engl J Med 343 (2000) 1529-1535
6. Phillips J.D., Parker T.L., Schubert H.L., Whitby F.G., Hill C.P., and Kushner J.P. Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase. Blood 98 (2001) 3179-3185
7. Maniatis T., Fritsch E.F., and Sambrook J. Molecular Cloning: A Laboratory Manual (1982), Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
8. Phillips J.D., Whitby F.G., Kushner J.P., and Hill C.P. Structural basis for tetrapyrrole coordination by uroporphyrinogen decarboxylase. EMBO J 22 (2003) 6225-6233
9. Otwinowski Z., and Minor W. Processing X-ray diffraction data in oscillation mode. In: Carter C., and Sweet R. (Eds). Methods in Enzymology vol. 276 (1997), Academic Press, New York 307-326
10. Murshudov G.N. Refinement of macromolecular structures by the maximum-likelihood method. Acta Crystallogr D Biol Crystallogr 53 Pt 3 (1997) 240-255
11. Jones T.A., Zou J.Y., Cowan S.W., and Kjeldgaard M. Improved methods for building protein models in electron density maps and the location of errors in these models. Acta Crystallogr A 47 Pt 2 (1991) 110-119
12. DeLano W.L. The PyMOL Molecular Graphics System (2002). http://www.pymol.org Available at: http://www.pymol.org.
13. Armstrong D.K., Sharpe P.C., Chambers C.R., Whatley S.D., Roberts A.G., and Elder G.H. Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern. Br J Dermatol 151 (2004) 920-923
14. Mendez M., Rossetti M.V., Siervi A.D., del Carmen Batlle A.M., and Parera V. Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria. Hum Mutat 16 (2000) 269-270
15. Whitby F.G., Phillips J.D., Kushner J.P., and Hill C.P. Crystal structure of human uroporphyrinogen decarboxylase. EMBO J 17 (1998) 2463-2471
16. Baker K.E., and Parker R. Nonsense-mediated mRNA decay: terminating erroneous gene expression. Curr Opin Cell Biol 16 (2004) 293-299
17. Agoston A.T., Argani P., Yegnasubramanian S., De Marzo A.M., Ansari-Lari M.A., Hicks J.L., et al. Increased protein stability causes DNA methyltransferase 1 dysregulation in breast cancer. J Biol Chem 280 (2005) 18302-18310
18. Phillips J.D., Jackson L.K., Bunting M., Franklin M.R., Thomas K.R., Levy J.E., et al. A mouse model of familial porphyria cutanea tarda. Proc Natl Acad Sci USA 98 (2001) 259-264
19. Franklin M.R., Phillips J.D., and Kushner J.P. Attenuation of polychlorinated biphenyl induced uroporphyria by iron deprivation. Env Toxicol Pharmacol 20 (2005) 417-423
20. Ged C., Ozalla D., Herrero C., Lecha M., Mendez M., de Verneuil H., et al. Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus. Arch Dermatol 138 (2002) 957-960
21. Bulaj Z.J., Phillips J.D., Ajioka R.S., Franklin M.R., Griffen L.M., Guinee D.J., et al. Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. Blood 95 (2000) 1565-1571