A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia

Journal of Human Genetics

Volumn 43, Issue 3, 1998, Pages 160-164

  Sugimoto, Naoya ^a   Iwamoto, Sadahiko ^a   Hoshino, Yuichi ^a   Kajii, Eiji ^a  

^a JICHI MEDICAL UNIVERSITY   (Japan)

Author keywords

Bone marrow stromal fibroblast; Frameshift mutation; Glycosyl phosphatidyl inositol (GPI); Hepatic failure

Indexed keywords

MAMMALIA;

ALKALINE PHOSPHATASE;

ADOLESCENT; ARTICLE; CASE REPORT; DNA SEQUENCE; ENZYMOLOGY; FEMALE; GENETICS; HUMAN; HYPOPHOSPHATASIA; MALE; MUTATION; PEDIGREE; TISSUE DISTRIBUTION;

ADOLESCENT; ALKALINE PHOSPHATASE; FEMALE; HUMANS; HYPOPHOSPHATASIA; MALE; MUTATION; PEDIGREE; SEQUENCE ANALYSIS, DNA; TISSUE DISTRIBUTION;

EID: 0031613674     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050061     Document Type: Article

References (31)

1. Amthauer R, Kudukula K, Brink L, Udenfriend S (1992) Phosphatidylinositol-glycan (PI-G) -anchored membrane proteins-Requirement of ATP and GTP for translation-independent COOH-terminal processing. Proc Natl Acad Sci USA 89, 6124-6128
2. Berger J, Garattini E, Hua JC, Udenfriend S (1987) Cloning and sequencing of human intestinal alkaline phosphatase cDNA. Proc Natl Acad Sci USA 84: 695-698
3. Chang CN, Kuang WJ, Chen EY (1986) Nucleotide sequence of the alkaline phosphatase gene of Escherichia coli. Gene 44: 121-125
4. The Committee on Enzymes of the Scandinavian Society for Clinical Chemistry and Clinical Physiology (1974) Recommended methods for the determination of four enzymes in blood. Scand J Clin Lab Invest 33: 291-306
5. Coyne KE, Crisci A, Lublint DM (1993) Construction of synthetic signals for glycosyl-phosphatidylinositol anchor attatchment. J Biol Chem 268: 6689-6693
6. Crawford K, Weissig H, Binette F, Millan JL, Goetinck PF (1995) Tissue-nonspecific alkaline phosphatase participates in the establishment and growth of feather germs in embryonic chick skin cultures. Dev Dyn 204: 8-56
7. Currarino G, Neuhauser EBD, Reyesbach GC, Sobel EH (1957) Hypophosphatasia Am J Roentgenol 78: 392-419
8. DuBose RF, Hartl DL (1990) The molecular evolution of bacterial alkaline phosphatase: Correlating variation among enteric bacteria of experimental manipulations of the protein. Mol Biol Evol 7: 547-577
9. Fedde KN, Michell MP, Henthorn PS, Whyte MP (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
10. Fraser D (1957) Hypophosphatasia. Am J Med 22: 730-746
11. Garattini E, Hua JC, Udenfriend S (1987) Cloning and sequencing of bovine kidney alkaline phosphatase cDNA. Gene 59: 41-46
12. Greenberg CR, Taylor CLD, Haworth JC, Seargeant LE, Philipps S, Triggs-Rainen B, Chodirker BN (1993) A homoallelic Gly317 → Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian Mennonites. Genomics 17: 215-217
13. Griffin CA, Smith M, Hentheron PS, Harris H, Weiss M, Rauducha M, Emanuel BS (1987) Human placental and intestinal alkaline phosphatase genes map to 2q34-q37. Am J Hum Genet 41: 1025-1034
14. Harris H (1989) The human alkaline phosphatase: What we know and what we don't know. Clin Chim Acta 186: 133-150
15. Henthorn PS, Raducha M, Fedde KN, Lafferty MA, Whyte MP (1992) Different missense mutation 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
16. Itoh M, Takeda S, Yamamoto H, Izumi S, Tomino S, Eguchi M (1991) Cloning and sequence analysis of membrane-bound alkaline phosphatase cDNA of the silkworm. Bombyx mori Biochim Biophys Acta 1129: 135-138
17. Kodukula K, Gerber LD, Amthauer R, Brink L, Udenfriend S (1993) Biosynthesis of glycosylphosphatidylinositol (GPI)-anchored mem- brane proteins in intact cells: Specific amino acid requirements adjacent to the site of cleavage and GP1 attachment. J Cell Biol 120: 657-664
18. Lowry OH, Robertson NR, Wu ML, HIxon WS, Crawfold EJ (1954) The quantative histochemistry of brain II enzyme measurements. J Biol Chem 207: 19-37
19. Manes T, Glade K, Ziomek CA, Millan JL (1990) Genomic structure and comparison of mouse tissue-specific alkaline phosphatase genes. Genomics 8: 541-554
20. McComb RB, Bowers GN, Posen S (1979) Alkaline phosphatase. Plenum, New York, Chapter 8: 373-524
21. Millan JL (1986) Molecular cloning and sequence analysis of human placental alkaline phosphatase. J Biol Chem 261: 3112-3115
22. Misumi Y, Tashiro K, Hattori M, Sakaki Y, Ikehara Y (1988) Primary structure of rat liver alkaline phosphatase deduced from its cDNA. Biochem J 249: 661-668
23. Nanba K, Aoki J, Sasaki N (1987) A new enzyme immuno-histochemical technique using alkaline phosphatase-labeled avidin and new fuchsin. Byouri To Rinnsyou 5: 333-339
24. 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 Japanese patient with hypophosphatasia. Hum Mol Genet 3: 1683-1684
25. Ozono K, Yamagata M, Michigami T, Nakajima S, Sakai N, Cai G, Satomura K, Yasui N, Okada S, Nakayama M (1996) Identification of novel missense mutation (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia. J Clin Endocrinol Metab 44: 686-694
26. Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74: 5463-5467
27. Sato N, Takahashi Y, Asano S (1994) Preferential usage of the bone-type leader sequence for the transcripts of liver/bone/kidney-type alkaline phosphatase gene in neutrophilic granulocytes. Blood 83: 1093-1101
28. Sowadski JM, Handschumacher MD, Murthy HMK, Foster BA, Wyckoff HW (1985) Refined structure of alkaline phosphatase from Escherichia at 2.8 Å resolution. J Mol Biol 186: 417-733
29. Smith M, Weiss MJ, Griffin CA, Murray JC, Buetow KH, Manuel BS, Henthron PS, Harris H (1988) Region assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36-p34. Genomics 2: 139-143
30. 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 alkaline phosphatase. Proc Natl Acad Sci USA 83: 7182-7186
31. Weiss MJ, Cole DEC. Ray K, Whyte MP, Lafferty MA, Mulivor RA, Harris H (1988) A missense mutation in the human liver/bone/ kidney alkaline phosphatase gene causing a lethal form of hypo-phosphatasia. Proc Natl Acad Sci USA 85: 7666-7669