Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome

Journal of Biological Chemistry

Volumn 287, Issue 9, 2012, Pages 6318-6325

  Murakami, Yoshiko ^a   Kanzawa, Noriyuki ^a   Saito, Kazunobu ^a   Krawitz, Peter M ^b   Mundlos, Stefan ^b   Robinson, Peter N ^b   Karadimitris, Anastasios ^c   Maeda, Yusuke ^a   Kinoshita, Taroh ^a  

^a OSAKA UNIVERSITY   (Japan)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BIOCHEMISTRY; BIOSYNTHESIS; CELL MEMBRANES; CYTOLOGY; PEPTIDES;

ALKALINE PHOSPHATASE; AMINO ACID SUBSTITUTION; GLYCOSYLPHOSPHATIDYLINOSITOL; GPI-ANCHORED PROTEIN; MENTAL RETARDATION; MOLECULAR MECHANISM; PHOSPHATIDYLINOSITOL; SIGNAL PEPTIDE;

PHOSPHATASES;

ALKALINE PHOSPHATASE; AMINOTRANSFERASE; GLYCOSYLPHOSPHATIDYLINOSITOL; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; GLYCOSYLPHOSPHATIDYLINOSITOL TRANSAMIDASE; PHOSPHATIDYLINOSITOL GLYCAN CLASS B; PHOSPHATIDYLINOSITOL GLYCAN CLASS F; PHOSPHATIDYLINOSITOL GLYCAN CLASS L; PHOSPHATIDYLINOSITOL GLYCAN CLASS V; PHOSPHATIDYLINOSITOL GLYCAN CLASS X; SIGNAL PEPTIDE; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOACCUMULATION; CHO CELL; CONTROLLED STUDY; ENZYME DEGRADATION; ENZYME RELEASE; HYPERPHOSPHATASEMIA; HYPERPHOSPHATASIA MENTAL RETARDATION SYNDROME; MENTAL DEFICIENCY; MUTANT; NONHUMAN; PHOSPHOLIPID SYNTHESIS; PRIORITY JOURNAL; PROTEIN SECRETION;

EID: 84857462048     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M111.331090     Document Type: Article

References (20)

1. Krawitz, P. M., Schweiger, M. R., Rödelsperger, C., Marcelis, C., Kölsch, U., Meisel, C., Stephani, F., Kinoshita, T., Murakami, Y., Bauer, S., Isau, M., Fischer, A., Dahl, A., Kerick, M., Hecht, J., Köhler, S., Jäger, M., Grünhagen, J., de Condor, B. J., Doelken, S., Brunner, H. G., Meinecke, P., Passarge, E., Thompson, M. D., Cole, D. E., Horn, D., Roscioli, T., Mundlos, S., and Robinson, P. N. (2010) Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat. Genet. 42, 827-829
2. Kang, J. Y., Hong, Y., Ashida, H., Shishioh, N., Murakami, Y., Morita, Y. S., Maeda, Y., and Kinoshita, T. (2005) PIG-V involved in transferring the second mannose in glycosylphosphatidylinositol. J. Biol. Chem. 280, 9489-9497 (Pubitemid 40409644)
3. Thompson, M. D., Nezarati, M. M., Gillessen-Kaesbach, G., Meinecke, P., Mendoza-Londono, R., Mornet, E., Brun-Heath, I., Squarcioni, C. P., Legeai-Mallet, L., Munnich, A., and Cole, D. E. (2010) Hyperplasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome. Am. J. Med. Genet. A 152, 1661-1669
4. Ohishi, K., Inoue, N., and Kinoshita, T. (2001) PIG-S and PIG-T, essential for GPI anchor attachment to proteins, form a complex with GAA1 and GPI8. EMBO J. 20, 4088-4098 (Pubitemid 32751825)
5. Hong, Y., Ohishi, K., Kang, J. Y., Tanaka, S., Inoue, N., Nishimura, J., Maeda, Y., and Kinoshita, T. (2003) Human PIG-U and yeast Cdc91p are the fifth subunit of GPI transamidase that attaches GPI anchors to proteins. Mol. Biol. Cell 14, 1780-1789 (Pubitemid 36583532)
6. Udenfriend, S., and Kodukula, K. (1995) How glycosylphosphatidylinositol- anchored membrane proteins are made. Annu. Rev. Biochem. 64, 563-591
7. Lauc, G., and Heffer-Lauc, M. (2006) Shedding and uptake of gangliosides and glycosylphosphatidylinositol-anchored proteins. Biochim. Biophys. Acta 1760, 584-602
8. Bazil, V., Horejsí, V., Baudys, M., Kristofová, H., Strominger, J. L., Kostka, W., and Hilgert, I. (1986) Biochemical characterization of a soluble form of the 53-kDa monocyte surface antigen. Eur. J. Immunol. 16, 1583-1589 (Pubitemid 17025700)
9. Thunø, M., Macho, B., and Eugen-Olsen, J. (2009) suPAR. The molecular crystal ball. Dis. Markers 27, 157-172
10. Kinoshita, T., Inoue, N., and Takeda, J. (1995) Defective glycosyl phosphatidylinositol anchor synthesis and paroxysmal nocturnal hemoglobinuria. Adv. Immunol. 60, 57-103
11. Almeida, A. M., Murakami, Y., Layton, D. M., Hillmen, P., Sellick, G. S., Maeda, Y., Richards, S., Patterson, S., Kotsianidis, I., Mollica, L., Crawford, D. H., Baker, A., Ferguson, M., Roberts, I., Houlston, R., Kinoshita, T., and Karadimitris, A. (2006) Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. Nat. Med. 12, 846-851 (Pubitemid 44050077)
12. Maeda, Y., Watanabe, R., Harris, C. L., Hong, Y., Ohishi, K., Kinoshita, K., and Kinoshita, T. (2001) PIG-M transfers the first mannose to glycosylphosphatidylinositol on the lumenal side of the ER. EMBO J. 20, 250-261 (Pubitemid 32099121)
13. Maeda, Y., Ashida, H., and Kinoshita, T. (2006) CHO glycosylation mutants. GPI anchor. Methods Enzymol. 416, 182-205 (Pubitemid 44750111)
14. Takebe, Y., Seiki, M., Fujisawa, J., Hoy, P., Yokota, K., Arai, K., Yoshida, M., and Arai, N. (1988) SRα promoter. An efficient and versatile mammalian cDNA expression system composed of the simian virus 40 early promoter and the R-U5 segment of human T-cell leukemia virus type 1 long terminal repeat. Mol. Cell. Biol. 8, 466-472 (Pubitemid 18015592)
15. Kodukula, K., Gerber, L. D., Amthauer, R., Brink, L., and Udenfriend, S. (1993) Biosynthesis of glycosylphosphatidylinositol (GPI)-anchored membrane proteins in intact cells. Specific amino acid requirements adjacent to the site of cleavage and GPI attachment. J. Cell Biol. 120, 657-664 (Pubitemid 23035135)
16. Tashima, Y., Taguchi, R., Murata, C., Ashida, H., Kinoshita, T., and Maeda, Y. (2006) PGAP2 is essential for correct processing and stable expression of GPI-anchored proteins. Mol. Biol. Cell 17, 1410-1420 (Pubitemid 43376560)
17. Vainauskas, S., and Menon, A. K. (2004) A conserved proline in the last transmembrane segment of Gaa1 is required for glycosylphosphatidylinositol (GPI) recognition by GPI transamidase. J. Biol. Chem. 279, 6540-6545 (Pubitemid 38248789)
18. Maydan, G., Noyman, I., Har-Zahav, A., Neriah, Z. B., Pasmanik-Chor, M., Yeheskel, A., Albin-Kaplanski, A., Maya, I., Magal, N., Birk, E., Simon, A. J., Halevy, A., Rechavi, G., Shohat, M., Straussberg, R., and Basel-Vanagaite, L. (2011) Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. J. Med. Genet. 48, 383-389
19. Hong, Y., Maeda, Y., Watanabe, R., Ohishi, K., Mishkind, M., Riezman, H., and Kinoshita, T. (1999) Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol. J. Biol. Chem. 274, 35099-35106 (Pubitemid 129509564)
20. Kinoshita, T., Fujita, M., and Maeda, Y. (2008) Biosynthesis, remodeling, and functions of mammalian GPI-anchored proteins. Recent progress. J. Biochem. 144, 287-294