Hypophosphatasia: Identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients
Corresponding Author
Masae Goseki-Sone
Department of Biochemistry, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, Japan
Department of Biochemistry, Faculty of Denistry, Tokyo Medical and Dental University, 1-5-45 Yushirna, Bunkyo-ku, Tokyo, 113 JapanSearch for more papers by this authorHideo Orimo
Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan
Search for more papers by this authorTadahiro Iimura
Department of Biochemistry, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, Japan
Search for more papers by this authorYuzo Takagi
Department of Pedodontics, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, Japan
Search for more papers by this authorHisashi Watanabe
Department of Periodontology, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, Japan
Search for more papers by this authorKazuhisa Taketa
Department of Public Health, Okayama University Medical School, Okayama, Japan
Search for more papers by this authorSeiji Sato
Department of Pediatrics, Keio University, Tokyo, Japan
Search for more papers by this authorHideaki Mayanagi
Department of Pedodontics, Faculty of Dentistry, Tohoku University, Sendai, Japan
Search for more papers by this authorTakashi Shimada
Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan
Search for more papers by this authorShinichiro Oida
Department of Biochemistry, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, Japan
Search for more papers by this authorCorresponding Author
Masae Goseki-Sone
Department of Biochemistry, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, Japan
Department of Biochemistry, Faculty of Denistry, Tokyo Medical and Dental University, 1-5-45 Yushirna, Bunkyo-ku, Tokyo, 113 JapanSearch for more papers by this authorHideo Orimo
Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan
Search for more papers by this authorTadahiro Iimura
Department of Biochemistry, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, Japan
Search for more papers by this authorYuzo Takagi
Department of Pedodontics, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, Japan
Search for more papers by this authorHisashi Watanabe
Department of Periodontology, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, Japan
Search for more papers by this authorKazuhisa Taketa
Department of Public Health, Okayama University Medical School, Okayama, Japan
Search for more papers by this authorSeiji Sato
Department of Pediatrics, Keio University, Tokyo, Japan
Search for more papers by this authorHideaki Mayanagi
Department of Pedodontics, Faculty of Dentistry, Tohoku University, Sendai, Japan
Search for more papers by this authorTakashi Shimada
Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan
Search for more papers by this authorShinichiro Oida
Department of Biochemistry, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, Japan
Search for more papers by this author
References
- Goseki (Sone) M, Oida S, Takagi Y, Okuyama T, Watanabe J, Sasaki S (1990) Immunological study on hypophosphatasia. Clinica Chimica Acta 190: 263–268.
- Goseki (Sone) M, Oida S, Takeda K, Ogata Y, Iimura T, Maruoka Y, Sasaki S (1995) Identification of bone-type alkaline phosphatase mRNA from human periodontal ligament cells. J Dent Res 74: 319–322.
- Greenberg CR, Taylor CLD, Haworth JC, Seagent LE, Philipps S, Triggs-Raine B, Chodirker BN (1993) AhomoallelicGly317» Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian Mennonites. Genomics 17: 215–217.
- Henthorn PS, Raducha M, Kadesch T, Weiss MJ, Harris H (1988) Sequence and characterization of the human intestinal alkaline phosphatase. J Biol Chem 263: 12011–12019.
- Henthorn PS, Raducha M, Fedde KN, Lafferty MA, Whyte MP (1992) 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 89: 9924–9928.
- Kim EE, Wyckoff HW (1989) Structure of alkaline phosphatases. Clinica Chimica Acta 186: 175–188.
- Knoll BJ, Rothblum N, Longley M (1988) Nucleotide sequence of the human placental alkaline phosphatase gene. J Biol Chem 263: 12020–12027.
- Matsuura S, Kishi F, Kajii T (1990) Characterization of a 5′-flanking region of the human liver/bone/kidney alkaline phosphatase gene: Two kinds of mRNA from a single gene. Biochem Biophys Res Commun 168: 993–1000.
- Orimo H, Hayashi Z, Watanabe A, Hirayama T, Hirayama T, Shimada T (1994) Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia. Hum Mol Genet 3: 1683–1684.
-
Orimo H,
Nakajima E,
Hayashi Z,
Kijima K,
Watanabe A,
Tenjin H,
Araki T,
Shimada T
(1996)
First-trimester prenatal molecular diagnosis of infantile hypophosphatasia in a Japanese family.
Prenat Diagn
16:
559–563.
10.1002/(SICI)1097-0223(199606)16:6<559::AID-PD897>3.0.CO;2-A CAS PubMed Web of Science® Google Scholar
- Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain termination inhibitors. Proc Natl Acad Sci USA 74: 5463–5467.
- Terao M, Mintz B (1987) Cloning and characterization of a cDNA coding for mouse placental alkaline phosphatase. Proc Natl Acad Sci USA 84: 7051–7055.
- Weiss MJ, Henthorn PS, Lafferty MA, Slaughter C, Raducha M, Harris H (1986) Isolation and characterization of a cDNA encoding a human liver/bone/kidney-type alkaline phosphatase. Proc Natl Acad USA 83: 7182–7186.
- Weiss MJ, Cole DE, Ray K, Whyte MP, Lafferty MA, Mulivor RA, Harris H (1988a) A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proc Natl Acad Sci USA 85: 7666–7669.
- Weiss MJ, Ray K, Henthorn PS, Lamb B, Kadesch T, Harris H (1988b) Structure of the human liver/bone/kidney alkaline phosphatase gene. J Biol Chem 263: 12002–12010.
- Whyte MP (1989) Hypophosphatasia. In WA Peck (ed): Bone and Mineral Research, Vol 6. New York: Elsevier, pp 175–218.