Cloning and expression of zebrafish genes encoding the heme synthesis enzymes uroporphyrinogen III synthase (UROS) and protoporphyrinogen oxidase (PPO)

DNA Sequence - Journal of DNA Sequencing and Mapping

Volumn 18, Issue 1, 2007, Pages 54-60

  Hanaoka, Ryuki ^a   Dawid, Igor B ^b   Kawahara, Atsuo ^a  

^a KYOTO UNIVERSITY   (Japan)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

Heme synthesis; PPO; UROS; Zebrafish

Indexed keywords

PROTOPORPHYRINOGEN OXIDASE; UROPORPHYRINOGEN III SYNTHASE;

ARTICLE; COMPARATIVE STUDY; FERTILIZATION; GENE EXPRESSION; GENETIC CONSERVATION; HEMATOPOIESIS; HEME SYNTHESIS; HUMAN; INNER CELL MASS; MESODERM; MOLECULAR CLONING; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SOMITE; ZEBRA FISH;

ANIMALS; BASE SEQUENCE; CLONING, MOLECULAR; DNA PRIMERS; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENE EXPRESSION REGULATION, ENZYMOLOGIC; HEME; IN SITU HYBRIDIZATION; PROTOPORPHYRINOGEN OXIDASE; UROPORPHYRINOGEN III SYNTHETASE; ZEBRAFISH;

DANIO RERIO; MAMMALIA;

EID: 33847023603     PISSN: 10425179     EISSN: 10292365     Source Type: Journal    
DOI: 10.1080/10425170601060848     Document Type: Article

References (30)

1. Aizencang G, Soils C, Bishop DF, Warner C, Desnick RJ. 2000. Human uroporphyrinogen-III synthase: Genomic organization, alternative promoters, and erythroid-specific expression. Genomics 70:223-231.
2. Amatruda JF, Zon LI. 1999. Dissecting hematopoiesis and disease using the zebrafish. Dev Biol 216:1-15.
3. Boulechfar S, Da Silva V, Deybach JC, Nordmann Y, Grandchamp B, de Verneuil H. 1992. Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. Hum Genet 88:320-324.
4. Brownlie A, Donovan A, Pratt SJ, Paw BH, Oates AC, Brugnara C, Witkowska HE, Sassa S, Zon LI. 1998. Positional cloning of the zebrafish sauternes gene: A model for congenital sideroblastic anaemia. Nat Genet 20:244-250.
5. Childs S, Weinstein BM, Mohideen MA, Donohue S, Bonkovsky H, Fishman MC. 2000. Zebrafish dracula encodes ferrochelatase and its mutation provides a model for erythropoietic protoporphyria. Curr Biol 10:1001-1004.
6. Dailey TA, Meissner P, Dailey HA. 1994. Expression of a cloned protoporphyrinogen oxidase. J Biol Chem 269:813-815.
7. Dailey TA, Dailey HA, Meissner P, Prasad AR. 1995. Cloning, sequence, and expression of mouse protoporphyrinogen oxidase. Arch Biochem Biophys 324:379-384.
8. Deybach JC, de Verneuil H, Boulechfar S, Grandchamp B, Nordmann Y. 1990. Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease). Blood 75:1763-1765.
9. Dooley K, Zon LI. 2000. Zebrafish: A model system for the study of human disease. Curr Opin Genet Dev 10:252-256.
10. Hanaoka R, Katayama S, Dawid IB, Kawahara A. 2006. Characterization of the heme synthesis enzyme coproporphyrinogen oxidase (CPO) in zebrafish erythrogenesis. Genes Cells 11:293-303.
11. Kauppinen R, Timonen K, von und zu Fraunberg M, Laitinen E, Ahola H, Tenhunen R, Taketani S, Mustajoki P. 2001. Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect. J Invest Dermatol 116:610-613.
12. Kawahara A, Chien CB, Dawid IB. 2002. The homeobox gen embx is involved in eye and tectum development. Dev Biol 248:107-117.
13. Kawahara A, Dawid IB. 2001. Critical role of biklf in erythroid cell differentiation in zebrafish. Curr Biol 11:1353-1357.
14. Lyons SE, Lawson ND, Lei L, Bennett PE, Weinstein BM, Liu PP. 2002. A nonsense mutation in zebrafish gata 1 causes the bloodless phenotype in vlad tepes. Proc Natl Acad Sci USA 99:5454-5459.
15. Meissner PN, Dailey TA, Hift RJ, Ziman M, Corrigall AV, Roberts AG, Meissner DM, Kirsch RE, Dailey HA. 1996. A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. Nat Genet 13:95-97.
16. Nishimura K, Taketani S, Inokuchi H. 1995. Cloning of a human cDNA for protoporphyrinogen oxidase by complementation in vivo of a hemG mutant of Escherichia coli. J Biol Chem 270:8076-8080.
17. Ponka P. 1999. Cell biology of heme. Am J Med Sci 318:241-256.
18. Rogounovitch T, Takamura N, Hombrados I, Morel C, Tanaka T, Kameyoshi Y, Shimizu-Yoshida Y, de Verneuil H, Yamashita S. 2000. Congenital erythropoietic porphyria: A novel homozygous mutation in a Japanese patient. J Invest Dermatol 115:1156.
19. Shady AA, Colby BR, Cunha LF, Astrin KH, Bishop DF, Desnick RJ. 2002. Congenital erythropoietic porphyria: Identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene. Br J Haematol 117:980-987.
20. Stainier DY, Weinstein BM, Detrich HW 3rd, Zon LI, Fishman MC. 1995. Cloche, an early acting zebrafish gene, is required by both the endothelial and hematopoietic lineages. Development 121:3141-3150.
21. Takamura N, Hombrados I, Tanigawa K, Namba H, Nagayama Y, de Verneuil H, Yamashita S. 1997. Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family. Am J Med Genet 70:299-302.
22. Taketani S, Inazawa J, Abe T, Furukawa T, Kohno H, Tokunaga R, Nishimura K, Inokuchi H. 1995. The human protoporphyrinogen oxidase gene (PPOX): Organization and location to chromosome 1. Genomics 29:698-703.
23. Thisse C, Zon LI. 2002. Organogenesis - heart and blood formation from the zebrafish point of view. Science 295:457-462.
24. Tsai SF, Bishop DF, Desnick RJ. 1988. Human uroporphyrinogen III synthase: Molecular cloning, nucleotide sequence, and expression of a full-length cDNA. Proc Natl Acad Sci USA 85:7049-7053.
25. von und zu Fraunberg M, Tenhunen R, Kauppinen R. 2001. Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients. Mol Med 7:320-328.
26. Wang H, Long Q, Marty SD, Sassa S, Lin S. 1998. A zebrafish model for hepatoerythropoietic porphyria. Nat Genet 20:239-243.
27. 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.
28. Woods IG, Wilson C, Friedlander B, Chang P, Reyes DK, Nix R, Kelly D, Chu F, Postlethwait JH, Talbot WS. 2005. The zebrafish gene map defines ancetral vertebrate chromosomes. Genome Res 15:1307-1314.
29. Xu W, Kozak CA, Desnick RJ. 1995a. Uroporphyrinogen-III synthase: Molecular cloning, nucleotide sequence, expression of a mouse full-length cDNA, and its localization on mouse chromosome 7. Genomics 26:556-562.
30. Xu W, Warner CA, Desnick RJ. 1995b. Congenital erythropoietic porphyria: Identification and expression of 10 mutations in the uroporphyrinogen III synthase gene. J Clin Invest 95:905-912.