Functional characterization of a novel mutation localized in the start codon of the tissue-nonspecific alkaline phosphatase gene

Bone

Volumn 48, Issue 6, 2011, Pages 1401-1408

  Mentrup, B ^a   Marschall, C ^a   Barvencik, F ^b   Amling, M ^b   Plendl, H ^c   Jakob, F ^a   Beck, C ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

Author keywords

ALPL; Dominant negative effect; Hypophosphatasia; Polymorphism; Tissue nonspecific alkaline phosphatase; Transcript variants

Indexed keywords

ALKALINE PHOSPHATASE; ISOLEUCINE; METHIONINE; SIGNAL PEPTIDE;

ADULT; ALKALINE PHOSPHATASE GENE; AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; BONE MARROW EDEMA; BONE METABOLISM; CASE REPORT; CELL ADHESION; CELL MEMBRANE; CELL STRAIN HEK293; CHILDBIRTH; ENZYME ACTIVITY; FATHER; FEMALE; FEMUR HEAD; GENE; GENE MUTATION; GENE OVEREXPRESSION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYPOPHOSPHATASIA; LACTATION; MISSENSE MUTATION; MYALGIA; PHENOTYPE; PROTEIN DEGRADATION; RELATIVE; SIBLING; START CODON; WILD TYPE;

EID: 79955881648     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2011.03.676     Document Type: Article

References (34)

1. Beck C., Morbach H., Stenzel M., Schneider P., Collmann H., Girschick G., Girschick H.J. Hypophosphatasia. Klin. Pädiatr. 2009, 221:219-226.
2. Mornet E. Hypophosphatasia. Orphanet. J. Rare Dis. 2007, 2:40.
3. Girschick H.J., Seyberth H.W., Huppertz H.I. Treatment of childhood hypophosphatasia with nonsteroidal antiinflammatory drugs. Bone 1999, 25:603-607.
4. Beck C., Morbach H., Richl P., Stenzel M., Girschick H.J. How can calcium pyrophosphate crystals induce inflammation in hypophosphatasia or chronic inflammatory joint diseases?. Rheumatol. Int. 2009, 29:229-238.
5. Whyte M.P., Landt M., Ryan L.M., Mulivor R.A., Henthorn P.S., Fedde K.N., Mahuren J.D., Coburn S.P. Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5′-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy. J. Clin. Invest. 1995, 95:1440-1445.
6. Weiss M.J., Ray K., Henthorn P.S., Lamb B., Kadesch T., Harris H. Structure of the human liver/bone/kidney alkaline phosphatase gene. J. Biol. Chem. 1988, 263:12002-12010.
7. Jemmerson R., Low M.G. Phosphatidylinositol anchor of HeLa cell alkaline phosphatase. Biochemistry 1987, 26:5703-5709.
8. Seetharam B., Tiruppathi C., Alpers D.H. Hydrophobic interactions of brush border alkaline phosphatases: the role of phosphatidyl inositol. Arch. Biochem. Biophys. 1987, 253:189-198.
9. Anh D.J., Dimai H.P., Hall S.L., Farley J.R. Skeletal alkaline phosphatase activity is primarily released from human osteoblasts in an insoluble form, and the net release is inhibited by calcium and skeletal growth factors. Calcif. Tissue Int. 1998, 62:332-340.
10. Anh D.J., Eden A., Farley J.R. Quantitation of soluble and skeletal alkaline phosphatase, and insoluble alkaline phosphatase anchor-hydrolase activities in human serum. Clin. Chim. Acta 2001, 311:137-148.
11. Utsch B., Brun-Heath I., Staatz G., Gravou-Apostolatou C., Karle S., Jacobs U., Ludwig M., Zenker M., Dorr H.G., Rascher W., Mornet E., Dotsch J. Infantile hypophosphatasia due to a new compound heterozygous TNSALP mutation-functional evidence for a hydrophobic side-chain?. Exp. Clin. Endocrinol. Diab. 2009, 117:28-33.
12. Sugimoto N., Iwamoto S., Hoshino Y., Kajii E. A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia. J. Hum. Genet. 1998, 43:160-164.
13. Fukushi M., Amizuka N., Hoshi K., Ozawa H., Kumagai H., Omura S., Misumi Y., Ikehara Y., Oda K. Intracellular retention and degradation of tissue-nonspecific alkaline phosphatase with a Gly317→Asp substitution associated with lethal hypophosphatasia. Biochem. Biophys. Res. Commun. 1998, 246:613-618.
14. Shibata H., Fukushi M., Igarashi A., Misumi Y., Ikehara Y., Ohashi Y., Oda K. Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162→Thr mutation associated with lethal hypophosphatasia. J. Biochem. 1998, 123:968-977.
15. Fedde K.N., Michell M.P., Henthorn P.S., Whyte M.P. Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia. J. Clin. Endocrinol. Metab. 1996, 81:2587-2594.
16. Zurutuza L., Muller F., Gibrat J.F., Taillandier A., Simon-Bouy B., Serre J.L., Mornet E. Correlations of genotype and phenotype in hypophosphatasia. Hum. Mol. Genet. 1999, 8:1039-1046.
17. Fauvert D., Brun-Heath I., Lia-Baldini A.S., Bellazi L., Taillandier A., Serre J.L., de Mazancourt P., Mornet E. Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. BMC Med. Genet. 2009, 10:51.
18. Ishida Y., Komaru K., Ito M., Amaya Y., Kohno S., Oda K. Tissue-nonspecific alkaline phosphatase with an Asp(289)→Val mutation fails to reach the cell surface and undergoes proteasome-mediated degradation. J. Biochem. 2003, 134:63-70.
19. Lia-Baldini A.S., Brun-Heath I., Carrion C., Simon-Bouy B., Serre J.L., Nunes M.E., Mornet E. A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein. Hum. Genet. 2008, 123:429-432.
20. Ito M., Amizuka N., Ozawa H., Oda K. Retention at the cis-Golgi and delayed degradation of tissue-non-specific alkaline phosphatase with an Asn153→Asp substitution, a cause of perinatal hypophosphatasia. Biochem. J. 2002, 361:473-480.
21. Noth U., Tuli R., Osyczka A.M., Danielson K.G., Tuan R.S. In vitro engineered cartilage constructs produced by press-coating biodegradable polymer with human mesenchymal stem cells. Tissue Eng. 2002, 8:131-144.
22. Kozak M. At least six nucleotides preceding the AUG initiator codon enhance translation in mammalian cells. J. Mol. Biol. 1987, 196:947-950.
23. Weiss M.J., Henthorn P.S., Lafferty M.A., Slaughter C., Raducha M., Harris H. Isolation and characterization of a cDNA encoding a human liver/bone/kidney-type alkaline phosphatase. Proc. Natl Acad. Sci. U.S.A. 1986, 83:7182-7186.
24. Fedde K.N., Lane C.C., Whyte M.P. Alkaline phosphatase is an ectoenzyme that acts on micromolar concentrations of natural substrates at physiologic pH in human osteosarcoma (SAOS-2) cells. Arch. Biochem. Biophys. 1988, 264:400-409.
25. Hooper N.M. Glycosyl-phosphatidylinositol anchored membrane enzymes. Clin. Chim. Acta 1997, 266:3-12.
26. Halling Linder C., Narisawa S., Millan J.L., Magnusson P. Glycosylation differences contribute to distinct catalytic properties among bone alkaline phosphatase isoforms. Bone 2009, 45:987-993.
27. Muller H.L., Yamazaki M., Michigami T., Kageyama T., Schonau E., Schneider P., Ozono K. Asp361Val Mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme. J. Clin. Endocrinol. Metab. 2000, 85:743-747.
28. Lia-Baldini A.S., Muller F., Taillandier A., Gibrat J.F., Mouchard M., Robin B., Simon-Bouy B., Serre J.L., Aylsworth A.S., Bieth E., Delanote S., Freisinger P., Hu J.C., Krohn H.P., Nunes M.E., Mornet E. A molecular approach to dominance in hypophosphatasia. Hum. Genet. 2001, 109:99-108.
29. Henthorn P.S., Raducha M., Fedde K.N., Lafferty M.A., Whyte M.P. Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. Proc. Natl Acad. Sci. U.S.A. 1992, 89:9924-9928.
30. Carr S.A., Huddleston M.J., Bean M.F. Selective identification and differentiation of N- and O-linked oligosaccharides in glycoproteins by liquid chromatography-mass spectrometry. Protein Sci. 1993, 2:183-196.
31. Nosjean O., Koyama I., Goseki M., Roux B., Komoda T. Human tissue non-specific alkaline phosphatases: sugar-moiety-induced enzymic and antigenic modulations and genetic aspects. Biochem. J. 1997, 321(Pt 2):297-303.
32. Mornet E. Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene. Hum. Mutat. 2000, 15:309-315.
33. Goseki-Sone M., Sogabe N., Fukushi-Irie M., Mizoi L., Orimo H., Suzuki T., Nakamura H., Hosoi T. Functional analysis of the single nucleotide polymorphism (787T>C) in the tissue-nonspecific alkaline phosphatase gene associated with BMD. J. Bone Miner. Res. 2005, 20:773-782.
34. Sogabe N., Oda K., Nakamura H., Orimo H., Watanabe H., Hosoi T., Goseki-Sone M. Molecular effects of the tissue-nonspecific alkaline phosphatase gene polymorphism (787T>C) associated with bone mineral density. Biomed. Res. 2008, 29:213-219.