Correlations of genotype and phonotype in hypophosphatasia

Human Molecular Genetics

Volumn 8, Issue 6, 1999, Pages 1039-1046

  Zurutuza, L ^a   Muller, F ^b   Gibrat, J F ^c   Taillandier, A ^a   Simon Bouy, B ^a   Serre, J L ^a   Mornet, E ^a  

^a LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^b HÔPITAL AMBROISE PARÉ   (France)

^c CEMAGREF   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; GLYCOSYLPHOSPHATIDYLINOSITOL; COMPLEMENTARY DNA;

ANIMAL CELL; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DNA TRANSFECTION; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME STRUCTURE; GENE MUTATION; GENOTYPE; HUMAN; HYPOPHOSPHATASIA; MISSENSE MUTATION; MODEL; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS; ALLELE; AMINO ACID SUBSTITUTION; ANIMAL; BINDING SITE; CELL LINE; CHEMICAL STRUCTURE; CHEMISTRY; CHILD; DIMERIZATION; ENZYMOLOGY; GENETIC TRANSFECTION; GENETICS; INFANT; MUTATION; PATHOLOGY; PLASMID; PRESCHOOL CHILD; PROTEIN TERTIARY STRUCTURE;

ANIMALIA;

ALKALINE PHOSPHATASE; ALLELES; AMINO ACID SUBSTITUTION; ANIMALS; BINDING SITES; CELL LINE; CHILD; CHILD, PRESCHOOL; DIMERIZATION; DNA, COMPLEMENTARY; GENOTYPE; HUMANS; HYPOPHOSPHATASIA; INFANT; MODELS, MOLECULAR; MUTAGENESIS, SITE-DIRECTED; MUTATION; MUTATION, MISSENSE; PHENOTYPE; PLASMIDS; PROTEIN STRUCTURE, TERTIARY; TRANSFECTION;

EID: 0032589092     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.6.1039     Document Type: Article

References (27)

1. Whyte, M.P. (1994) Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization. Endocr. Rev., 15, 439-461.
2. Whyte, M.P., Fallon, M.D. and Murphy, W.A. (1979) Adult hypophosphatasia: clinical, laboratory and genetic investigation of a large kindred with review of the literature. Medicine (Baltimore), 58, 329-347.
3. Eastman, J.R. and Bixler, D. (1983) Clinical, laboratory, and genetic investigations of hypophosphatasia: support for autosomal dominant inheritance with homozygous lethality. J. Craniofasc. Genet. Dev. Biol., 3, 213-234.
4. Jemmerson, R. and Low, M.G. (1987) Phosphatidylinositol anchor of HeLa cell alkaline phosphatase. Biochemistry, 26, 5703-5709.
5. Fedde, K.N., Michell, M.P., Henthorn, P.S. and Whyte, M.P. (1996) Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia. J. Clin. Endocrinol. Metab., 81, 2587-2594.
6. Greenberg, C.R., Evans, J.A., McKendry-Smith, S., Redekopp, S., Haworth, J.C., Mulivor, R. and Chordiket, B.N. (1990) Infantile hypophosphatasia: localization within chromosome region 1p36.1.1-34 and prenatal diagnosis using linked DNA markers. Am. J. Hum. Genet., 46, 286-292.
7. Weiss, M.J., Henthorn, P.S., Lafferty, M.A., Slaughter, C., Raducha, M. and Harris, H. (1986) Isolation and characterization of a cDNA encoding human liver/bone/kidney-type alkaline phosphatase. Proc. Natl Acad. Sci. USA, 83, 7182-7186.
8. Weiss, M.J., Cole, D.E.C., Ray, K., Whyte, M.P., Lafferty, M.A., Mulivor, R.A. and Harris, H. (1988) A missense mutation in the liver/ bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proc. Natl Acad. Sci. USA, 85, 7666-7669.
9. Henthorn, P.S., Raducha, M., Fedde, K.N., Lafferty, M.A. and Whyte, M.P. (1992) Different mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. Proc. Natl Acad. Sci. USA, 89, 9924-9928.
10. Greenberg, C.R., Taylor, C.L., Haworth, J.C., Seargeant, L.E., Philipps, S., Triggs-Raine, B. and Chodirker, B.N. (1993) A homoallelic Gly317→Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites. Genomics, 17, 215-217.
11. Orimo, H., Haysshi, Z., Watanabe, A., Hirayama, T., Hirayama, T. and Shimada, T. (1994) Novel missense and frameshift mutations in the tissue-non-specific alkaline phosphatase gene in a Japanese patient with hypophosphatasia. Hum. Mol. Genet., 3, 1683-1684.
12. Ozono, K., Yamagata, M., Michigami, T., Nakajima, S., Sakai, N., Cai, G., Satomura, K., Yasui, N., Okada, S. and Nakayama, M. (1996) Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia. J. Clin. Endocrinol. Metab., 81, 4458-4461.
13. Goseki-Sone, M., Orimo, H., Iimura, T., Takagi, Y., Watanabe, H., Taketa, K., Sato, S., Mayanagi, H., Shimada, T. and Oida, S. (1998) Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, TI155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients. Hum. Mutat., 6 (suppl. 1), S263-S267.
14. Mornet, E., Taillandier, A., Peyramaure, S., Kaper, F., Muller, F., Brenner, R., Bussière, P., Freisinger, P., Godard, J., Le Merrer, M., Oury, J.F., Plauchu, H., Puddu, R., Rival, J.M., Superti-Furga, A., Touraine, R.L., Serre, J.L. and Simon-Bouy, B. (1998) Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia. Eur. J. Hum. Genet., 6, 308-314.
15. Sugimoto, N., Iwamoto, S., Hoshimo, Y. and Kajii, E. (1998) A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia. J. Hum. Genet., 43, 160-164.
16. Taillandier, A., Zurutuza, L., Muller, F., Simon-Bouy, B., Serre, J.L., Bird, L., Brenner, R., Boute, O., Cousin, J., Gaillard, D., Heidemann, P.H., Steinmann, B., Wallot, M. and Momet, E. (1998) Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Hum. Mutat., 13 (suppl. 2), 171-172.
17. Fukushi, M., Amizuka, N., Hoshi, K., Ozawa, H., Kumagai, H., Omura, S., Misumi, Y., Ikehara, Y. and Oda, K. (1998) Intracellular retention and degradation of tissue-nonspecific alkaline phosphatase with a Gly317Asp substitution associated with lethal hypophosphatasia. Biochem. Biophys. Res. Commun., 246, 613-618.
18. Shibata, H., Fukushi, M., Igarashi, A., Misumi, Y., Ikehara, Y., Ohashi, Y. and Oda, K. (1998) Defective intracellular transport of tissue-nonspecific alkaline phosphatase with Ala162Thr mutation associated with lethal hypophosphatasia. J. Biochem. (Tokyo), 123, 968-977.
19. Wyckoff, H.W., Handschumacher, M., Murthy, H.M. and Sowadski, J.M. (1983) The three dimensional structure of alkaline phosphatase from E.coli. Adv. Enzymol. Relat. Areas Mol. Biol., 55, 453-480.
20. Kim, E.E. and Wyckoff, H.W. (1991) Reaction mechanism of alkaline phosphatase based on crystal structures. Two-metal ion catalysis. J. Mol. Biol., 218, 449-464.
21. Murphy, J.E. and Kantrowitz, E.R. (1994) Why are mammalian alkaline phosphatases much more active than bacterial alkaline phosphatases? Mol. Microbiol., 12, 351-357.
22. Seetharam, B., Tiruppathi, C. and Alpers, D.H. (1987) Hydrophobic interactions of brush border alkaline phosphatases: the role of phosphatidyl inositol. Arch. Biochem. Biophys., 253, 189-198.
23. Higuchi, R., Krummel, B. and Saiki, R.K. (1988) A general method of in vitro preparation and specific mutagenesis of DNA fragments; studies of protein and DNA interactions. Nucleic Acids Res., 16, 7351-7367.
24. Oda, K., Cheng, J., Saku, T., Takami, N., Sohda, M., Misumi, Y., Ikehara, Y. and Millan, J.L. (1994) Conversion of secretory proteins into membrane proteins by fusing with a glycosylphosphatidylinositol anchor signal of alkaline phosphatase. Biochem. J., 301, 577-583.
25. Brown, D.A. and Rose, J.K. (1992) Sorting of GPI-anchored proteins to glycolipid-enriched membrane subdomains during transport to the apical cell surface. Cell, 68, 533-544.
26. Herbomel, P., Bourachot, B. and Yaniv, M. (1984) Two distinct enhancers with different cell specificities coexist in the regulatory region of polyoma. Cell, 39, 653-662.
27. Sali, A. and Blundell, T.L. (1993) Comparative protein modelling by satisfaction of spatial restraint. J. Mol. Biol., 234, 779-815.