The mutant (F310L and V365I) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia

Journal of Medical and Dental Sciences

Volumn 51, Issue 1, 2004, Pages 67-74

  Takinami, Hiroyuki ^a   Goseki Sone, Masae ^b   Watanabe, Hisashi ^a   Orimo, Hideo ^c   Hamatani, Ryoko ^b   Fukushi Irie, Mariko ^b   Ishikawa, Isao ^a  

^a Tokyo Medical and Dental University ^*  (Japan)

^b JAPAN WOMEN'S UNIVERSITY   (Japan)

^c NIPPON MEDICAL SCHOOL   (Japan)

Author keywords

COS 1 cells; Hypophosphatasia; Mutant gene; Site directed mutagenesis; Tissue nonspecific alkaline phosphatase

Indexed keywords

ALKALINE PHOSPHATASE;

ADULT; ANIMAL; ARTICLE; BLOOD; CASE REPORT; CELL STRAIN COS1; CERCOPITHECUS; COMPARATIVE STUDY; ENZYMOLOGY; GENETIC TRANSFECTION; GENETICS; HEAT; HUMAN; HYPOPHOSPHATASIA; MALE; MUTATION; PERIODONTITIS; PROTEIN SYNTHESIS; RECESSIVE GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SITE DIRECTED MUTAGENESIS;

ADULT; ALKALINE PHOSPHATASE; ANIMALS; CERCOPITHECUS AETHIOPS; COS CELLS; GENES, RECESSIVE; HEAT; HUMANS; HYPOPHOSPHATASIA; MALE; MUTAGENESIS, SITE-DIRECTED; MUTATION; PERIODONTITIS; PROTEIN BIOSYNTHESIS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRANSFECTION;

EID: 3042698746     PISSN: 13428810     EISSN: 13428810     Source Type: Journal    
DOI: None     Document Type: Article

References (39)

1. Whyte MP. Hypophosphatasia. In: Peck WA (ed.) Bone and Mineral Research Vol. 6. New York: Elsevier Science Publishers, 1989:175-18.
2. Weiss MJ, Henthorn PS, Lafferty MA, et al. Isolation and characterization of a cDNA encoding a human liver/bone/kidney-type alkaline phosphatase. Proc Natl Aca Sci USA 1986;83:7182-86.
3. Henthorn PS, Raducha M, Kadesch T, et al. Sequence and characterization of the human intestinal alkaline phosphatase gene. J Biol Chem 1988;263:12011-019.
4. Knoll BJ, Rothblum KN, Longley M. Nucleotide sequence of the human placental alkaline phosphatase gene. J Biol Chem 1988;263:12020-027.
5. Weiss MJ, Ray K, Henthorn PS, et al. Structure of the human liver/bone/kidney alkaline phosphatase gene. J Biol Chem 1988;263:12002-010.
6. Weiss MJ, Cole DE, Ray K, Whyte MP, et al. A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proc Natl Acad Sci USA 1988;85:7666-69.
7. Henthorn PS, Raducha M, Fedde KN, et al. 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 USA 1992;89:9924-28.
8. Greenberg CR, Taylor CL, Haworth JC, et al. A homoallelic Gly317-> Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites. Genomics 1993;17:215-17.
9. Orimo H, Hayashi Z, Watanabe A, et al. Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia. Hum Mol Genet 1994;3:1683-84.
10. Ozono K, Yamagata M, Michigami T, et al. Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia. J Clin Endocrinol Metab 1996;81:4458-61.
11. Orimo H, Goseki-Sone M, Sato S, et al. Detection of deletion 1154-1156 hypophosphatasia mutation using TNSALP exon amplification. Genomics 1997;42:364-66.
12. Goseki-Sone M, Orimo H, Iimura T, et al. Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients. Hum Mutat 1998;Suppl 1:S263-S67.
13. Goseki-Sone M, Orimo H, Iimura T, et al. Expression of the Mutant (1735T-del) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia patients. J Bone Miner Res 1998;13:1827-34.
14. Sugimoto N, Iwamoto S, Hoshino Y, et al. A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia. J Hum Genet 1998;43:160-64.
15. Mornet E, Taillandier A, Peyramaure S, et al. Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Eur J Hum Genet 1998;6:308-14.
16. Watanabe H, Goseki-Sone M, Iimura T, et al. Molecular diagnosis of hypophosphatasia with severe periodontitis. J Periodontol 1999;70:688-91.
17. Taillandier A, Zurutuza L, Muller F, et al. 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 1999;13:171-72.
18. Zurutuza L, Muller F, Gibrat JF, et al. Correlations of genotype and phenotype in hypophosphatasia. Hum Mol Genet 1999;8:1039-46.
19. Mochizuki H, Saito M, Michigami T, et al. Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene. Eur J Pediatr 2000;159:375-79.
20. Mornet E. Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene. Hum Mutat 2000;15:309-15.
21. Orimo H, Girschick HJ, Goseki-Sone M, et al. Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia. J Bone Miner Res 2001;16:2313-19.
22. Watanabe H, Hashimoto-Uoshima M, Goseki-Sone M, et al. A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia. Oral Dis 2001;7:331-35.
23. Taillandier A, Lia-Baldini AS, Mouchard M, et al. Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia. Hum Mutat 2001;18:83-84.
24. Orimo H, Goseki-Sone M, Inoue M, et al. Importance of deletion of T at nucleotide 1559 in the tissue-nonspecific alkaline phosphatase gene in Japanese patients with hypophosphatasia. J Bone Miner Metab 2002;20:28-33.
25. Watanabe H, Goseki-Sone M, Orimo H, et al. Function of mutant (G1144A) tissue-nonspecific ALP gene from hypophosphatasia. J Bone Miner Res 2002;17:1945-48.
26. Spentchian M, Merrien Y, Herasse M, et al. Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene. Hum. Mutat 2003;22:105-06.
27. Watanabe H, Umeda M, Seki T, et al. Clinical and laboratory studies of severe periodontal disease in an adolescent associated with hypophosphatasia. J Periodontol 1993;64:174-80.
28. Goseki(-Sone) M, Oida S, Takeda K, et al. Identification of bone-type alkaline phosphatase mRNA from human periodontal ligament cells. J Dent Res 1995;74:319-22.
29. Chomczynski P, Sacchi N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Chem 1987;162:156-59.
30. Burstone MS. (1962) in Enzyme Histochemistry and its Application on the Study of Neoplasms. New York: Academic Press, 1962:275-76.
31. Goseki (-Sone) M, Oida S, Sasaki S Detection of minor immunological differences among human "universal-type" alkaline phosphatases. J Cellular Biochem 1988;38:155-63.
32. Goseki (-Sone) M, Oida S, Sasaki S Properties of alkaline phosphatase of the human dental pulp. J Dent Res 1990;69:909-12.
33. Lia-Baldini AS, Muller F, Taillandier A, et al. A molecular approach to dominance in hypophosphatasia. Hum Genet 2001;109:99-08.
34. Kim EE, Wyckoff HW (1990) Structure of alkaline phosphatases. Clinica Chimica Acta 1990;186:175-87.
35. Mornet E, Stura E, Lia-Baldini AS, et al. Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization. J Biol Chem 2001;276:31171-78.
36. Di Mauro S, Manes T, Hessle L, et al. Kinetic characterization of hypophosphatasia mutations with physiological substrates. J Bone Miner Res 2002;17:1383-91.
37. Cai G, Michigami T, Yamamoto T, et al. Analysis of localization of mutated tissue-nonspecific alkaline phosphatase proteins associated with neonatal hypophosphatasia using green fluorescent protein chimeras. J Clin Endocrinol Metab 1998;83:3936-42.
38. 317→ Asp substitution associated with lethal hypophosphatasia Biochem Biophys Res Commun 1998;246:613-18.
39. 277→Ala substitution found in a compound heterozygote associated with severe hypophosphatasia. Biochem J 2000;348:633-42.