Abcb10 role in heme biosynthesis in vivo: Abcb10 knockout in mice causes anemia with protoporphyrin IX and iron accumulation

Molecular and Cellular Biology

Volumn 34, Issue 6, 2014, Pages 1077-1084

  Yamamoto, Masatatsu ^a   Arimura, Hiroshi ^a   Fukushige, Tomoko ^a   Minami, Kentarou ^a   Nishizawa, Yukihiko ^a   Tanimoto, Akihide ^a   Kanekura, Takuro ^a   Nakagawa, Masayuki ^a   Akiyama, Shin ichi ^a   Furukawa, Tatsuhiko ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ANEMIA; ANIMALS; ATP-BINDING CASSETTE TRANSPORTERS; ERYTHROID CELLS; ERYTHROPOIESIS; HEME; IRON; MICE; MICE, INBRED C57BL; MITOCHONDRIA; PROTOPORPHYRINS; RETICULOCYTES;

EID: 84894288903     PISSN: 02707306     EISSN: 10985549     Source Type: Journal    
DOI: 10.1128/MCB.00865-13     Document Type: Article

References (31)

1. Hamza I. 2006. Intracellular trafficking of porphyrins. ACS Chem. Biol. 1:627-629. http://dx.doi.org/10.1021/cb600442b.
2. Cotter PD, Rucknagel DL, Bishop DF. 1994. X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific deltaaminolevulinate synthase gene (ALAS2) in the original family described by Cooley. Blood 84:3915-3924.
3. Yamamoto M, Nakajima O. 2000. Animal models for X-linked sideroblastic anemia. Int. J. Hematol. 72:157-164.
4. Cox TM. 1997. Erythropoietic protoporphyria. J. Inherit Metab. Dis. 20:258-269. http://dx.doi.org/10.1023/A:1005317124985.
5. Chen W, Paradkar PN, Li L, Pierce EL, Langer NB, Takahashi-Makise N, Hyde BB, Shirihai OS, Ward DM, Kaplan J, Paw BH. 2009. Abcb10 physically interacts with mitoferrin-1 (Slc25a37) to enhance its stability and function in the erythroid mitochondria. Proc. Natl. Acad. Sci. U. S. A. 106:16263-16268. http://dx.doi.org/10.1073/pnas.0904519106.
6. Sassa S, Kappas A. 2000. Molecular aspects of the inherited porphyrias. J. Intern. Med. 247:169-178. http://dx.doi.org/10.1046/j.1365-2796.2000.00618.x.
7. Shaw GC, Cope JJ, Li L, Corson K, Hersey C, Ackermann GE, Gwynn B, Lambert AJ, Wingert RA, Traver D, Trede NS, Barut BA, Zhou Y, Minet E, Donovan A, Brownlie A, Balzan R, Weiss MJ, Peters LL, Kaplan J, Zon LI, Paw BH. 2006. Mitoferrin is essential for erythroid iron assimilation. Nature 440:96-100. http://dx.doi.org/10.1038/nature04512.
8. Troadec MB, Warner D, Wallace J, Thomas K, Spangrude GJ, Phillips J, Khalimonchuk O, Paw BH, Ward DM, Kaplan J. 2011. Targeted deletion of the mouse Mitoferrin1 gene: from anemia to protoporphyria. Blood 117:5494-5502. http://dx.doi.org/10.1182/blood-2010-11-319483.
9. Chen W, Dailey HA, Paw BH. 2010. Ferrochelatase forms an oligomeric complex with mitoferrin-1 and Abcb10 for erythroid heme biosynthesis. Blood 116:628-630. http://dx.doi.org/10.1182/blood-2009-12-259614.
10. Shirihai OS, Gregory T, Yu C, Orkin SH, Weiss MJ. 2000. ABC-me: a novel mitochondrial transporter induced by GATA-1 during erythroid differentiation. EMBO J. 19:2492-2502. http://dx.doi.org/10.1093/emboj/19.11.2492.
11. Graf SA, Haigh SE, Corson ED, Shirihai OS. 2004. Targeting, import, and dimerization of a mammalian mitochondrial ATP binding cassette (ABC) transporter, ABCB10 (ABC-me). J. Biol. Chem. 279:42954-42963. http://dx.doi.org/10.1074/jbc.M405040200.
12. Tang L, Bergevoet SM, Bakker-Verweij G, Harteveld CL, Giordano PC, Nijtmans L, de Witte T, Jansen JH, Raymakers RA, van der Reijden BA. 2011. Human mitochondrial ATP-binding cassette transporter ABCB10 is required for efficient red blood cell development. Br. J. Haematol. 157:151-154. http://dx.doi.org/10.1111/j.1365-2141.2011.08936.x.
13. Liesa M, Luptak I, Qin F, Hyde BB, Sahin E, Siwik DA, Zhu Z, Pimentel DR, Xu XJ, Ruderman NB, Huffman KD, Doctrow SR, Richey L, Colucci WS, Shirihai OS. 2011. Mitochondrial transporter ATP binding cassette mitochondrial erythroid is a novel gene required for cardiac recovery after ischemia/reperfusion. Circulation 124:806-813. http://dx.doi.org/10.1161/CIRCULATIONAHA.110.003418.
14. Hyde BB, Liesa M, Elorza AA, Qiu W, Haigh SE, Richey L, Mikkola HK, Schlaeger TM, Shirihai OS. 2012. The mitochondrial transporter ABC-me (ABCB10), a downstream target of GATA-1, is essential for erythropoiesis in vivo. Cell Death Differ. 19:1117-1126. http://dx.doi.org/10.1038/cdd.2011.195.
15. Yamamoto M, Yaginuma K, Tsutsui H, Sagara J, Guan X, Seki E, Yasuda K, Yamamoto M, Akira S, Nakanishi K, Noda T, Taniguchi S. 2004. ASC is essential for LPS-induced activation of procaspase-1 independently of TLR-associated signal adaptor molecules. Genes Cells 9:1055-1067. http://dx.doi.org/10.1111/j.1365-2443.2004.00789.x.
16. MacDonald MJ. 1995. Feasibility of a mitochondrial pyruvate malate shuttle in pancreatic islets. Further implication of cytosolic NADPH in insulin secretion. J. Biol. Chem. 270:20051-20058.
17. Lim CK. 2002. Analysis of biosynthetic intermediates, 5-aminolevulinic acid to heme, p 95-109. In Smith AG, Witty M (ed), Heme, chlorophyll, and billins. Humana Press, Totowa, NJ.
18. Samokhvalov IM, Samokhvalova NI, Nishikawa S. 2007. Cell tracing shows the contribution of the yolk sac to adult haematopoiesis. Nature 446:1056-1061. http://dx.doi.org/10.1038/nature05725.
19. Eaton JW, Qian M. 2002. Molecular bases of cellular iron toxicity. Free Radic. Biol. Med. 32:833-840. http://dx.doi.org/10.1016/S0891-5849(02)00772-4.
20. Harigae H, Nakajima O, Suwabe N, Yokoyama H, Furuyama K, Sasaki T, Kaku M, Yamamoto M, Sassa S. 2003. Aberrant iron accumulation and oxidized status of erythroid-specific delta-aminolevulinate synthase (ALAS2)-deficient definitive erythroblasts. Blood 101:1188-1193. http://dx.doi.org/10.1182/blood-2002-01-0309.
21. Fujiwara Y, Browne CP, Cunniff K, Goff SC, Orkin SH. 1996. Arrested development of embryonic red cell precursors in mouse embryos lacking transcription factor GATA-1. Proc. Natl. Acad. Sci. U. S. A. 93:12355-12358. http://dx.doi.org/10.1073/pnas.93.22.12355.
22. Shivdasani RA, Fujiwara Y, McDevitt MA, Orkin SH. 1997. A lineageselective knockout establishes the critical role of transcription factor GATA-1 in megakaryocyte growth and platelet development. EMBO J. 16:3965-3973. http://dx.doi.org/10.1093/emboj/16.13.3965.
23. Magness ST, Maeda N, Brenner DA. 2002. An exon 10 deletion in the mouse ferrochelatase gene has a dominant-negative effect and causes mild protoporphyria. Blood 100:1470-1477. http://dx.doi.org/10.1182/blood-2001-12-0283.
24. Tutois S, Montagutelli X, Da Silva V, Jouault H, Rouyer-Fessard P, Leroy-Viard K, Guénet JL, Nordmann Y, Beuzard Y, Deybach JC. 1991. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease. J. Clin. Invest. 88:1730-1736. http://dx.doi.org/10.1172/JCI115491.
25. Boulechfar S, Lamoril J, Montagutelli X, Guenet JL, Deybach JC, Nordmann Y, Dailey H, Grandchamp B, de Verneuil H. 1993. Ferrochelatase structural mutant (Fechm1Pas) in the house mouse. Genomics 16:645-648. http://dx.doi.org/10.1006/geno.1993.1242.
26. Nakajima O, Takahashi S, Harigae H, Furuyama K, Hayashi N, Sassa S, Yamamoto M. 1999. Heme deficiency in erythroid lineage causes differentiation arrest and cytoplasmic iron overload. EMBO J. 18:6282-6289. http://dx.doi.org/10.1093/emboj/18.22.6282.
27. Nakajima O, Okano S, Harada H, Kusaka T, Gao X, Hosoya T, Suzuki N, Takahashi S, Yamamoto M. 2006. Transgenic rescue of erythroid 5-aminolevulinate synthase-deficient mice results in the formation of ring sideroblasts and siderocytes. Genes Cells 11:685-700. http://dx.doi.org/10.1111/j.1365-2443.2006.00973.x.
28. Bergmann AK, Campagna DR, McLoughlin EM, Agarwal S, Fleming MD, Bottomley SS, Neufeld EJ. 2010. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. Pediatr. Blood Cancer 54:273-278. http://dx.doi.org/10.1002/pbc.22244.
29. Saito S, Iida A, Sekine A, Miura Y, Ogawa C, Kawauchi S, Higuchi S, Nakamura Y. 2002. Three hundred twenty-six genetic variations in genes encoding nine members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the Japanese population. J. Hum. Genet. 47:38-50. http://dx.doi.org/10.1007/s10038-002-8653-6.
30. Furuyama K, Harigae H, Kinoshita C, Shimada T, Miyaoka K, Kanda C, Maruyama Y, Shibahara S, Sassa S. 2003. Late-onset X-linked sideroblastic anemia following hemodialysis. Blood 101:4623-4624. http://dx.doi.org/10.1182/blood-2002-09-2804.
31. Harigae H, Furuyama K. 2010. Hereditary sideroblastic anemia: pathophysiology and gene mutations. Int. J. Hematol. 92:425-431. http://dx.doi.org/10.1007/s12185-010-0688-4.