Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene

Gene

Volumn 246, Issue 1-2, 2000, Pages 347-356

  White, Kenneth E ^a   Lorenz, Bettina ^b   Evans, Wayne E ^a   Meitinger, Thomas ^b   Strom, Tim M ^b   Econs, Michael J ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MUNICH   (Germany)

Author keywords

12p13; Chromosome 12; Galactosyltransferase; GalNAc transferase; Hypophosphatemia; ppGaNTase

Indexed keywords

COMPLEMENTARY DNA; GALACTOSYLTRANSFERASE; MESSENGER RNA; N ACETYLGALACTOSAMINYLTRANSFERASE;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 12P; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DNA LIBRARY; ENZYME ACTIVE SITE; EXON; GENE EXPRESSION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HUMAN; HYPOPHOSPHATEMIA; MOLECULAR CLONING; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PRIORITY JOURNAL; PROTEIN FAMILY; PROTEIN GLYCOSYLATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RICKETS; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; BLOTTING, NORTHERN; CATALYTIC DOMAIN; CHROMOSOMES, HUMAN, PAIR 12; CLONING, MOLECULAR; DNA; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; EXONS; FEMALE; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GENES; GENES, DOMINANT; HUMANS; HYPOPHOSPHATEMIA, FAMILIAL; INTRONS; MOLECULAR SEQUENCE DATA; MUTATION; N-ACETYLGALACTOSAMINYLTRANSFERASES; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA, MESSENGER; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID; TISSUE DISTRIBUTION;

MAMMALIA;

EID: 0034603745     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0378-1119(00)00050-0     Document Type: Article

References (30)

1. Bennett E.P., Hassan H., Clausen H. cDNA cloning and expression of a novel human UDP-N-acetyl-alpha-D-galactosamine. polypeptide N-acetylgalactosaminyltransferase, GalNAc-T3. J. Biol. Chem. 19:(271):1996;17 006-17 012.
2. Bennett E.P., Hassan H., Hollingsworth M.A., Clausen H. A novel human UDP-N-acetyl-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T7, with specificity for partial GalNAc-glycosylated acceptor substrates. FEBS Lett. 460:1999;226-230.
3. Bennett E.P., Hassan H., Mandel U., Hollingsworth M.A., Akisawa N., Ikematsu Y., Merkx G., van Kessel A.G., Olofsson S., Clausen H. Cloning and characterization of a close homologue of human UDP-N-acetyl-alpha-D-galactosaminyltransferase-T3, designated GalNAc-T6. Evidence for genetic but not functional heterogeneity. J. Biol. Chem. 274:(36):1999;25 362-25 370.
4. Bennett E.P., Hassan H., Mandel U., Mirgorodskaya E., Roepstorff P., Burchell J., Taylor-Papadimitriou J., Hollingsworth M.A., Merkx G., van Kessel A.G., Eiberg H., Steffensen R., Clausen H. Cloning of a human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase that complements other GalNAc-transferases in complete O-glycosylation of the MUC1 tandem repeat. J. Biol. Chem. 273:1998;30 472-30 481.
5. Bennett E.P., Weghuis D.O., Merkx G., van Kessel A.G., Eiberg H., Clausen H. Genomic organization and chromosomal localization of three members of the UDP-N-acetylgalactosamine: polypeptide N-acetylgalactosaminyltransferase family. Glycobiology. 8:1998;547-555.
6. Bianchine J.W., Stambler A.A., Harrison H.E. Familial hypophosphatemic rickets showing autosomal dominant inheritance. Birth Defects: Orig. Article Ser. 7:1971;287-295.
7. Clausen H., Bennett E.P. A family of UDP-GalNAc:polypeptide N-acetylgalactosaminyl transferases control the initiation of mucin-type O-linked glycosylation. Glycobiology. 6:(6):1996;635-646.
8. Collier E., Gorden P. O-Linked oligosaccharides on insulin receptor. Diabetes. 40:1991;197-203.
9. Cummings R.D., Kornfeld S., Schneider W.J., Hobgood K.K., Tolleshaug H., Brown M.S., Goldstein J.L. Biosynthesis of N- and O-linked oligosaccharides of the low density lipoprotein receptor. J. Biol. Chem. 258:1983;15 261-15 273.
10. Econs M.J., Barker D.F., Speer M.C., Pericak-Vance M.A., Fain P.R., Drezner M.K. Multilocus mapping of the X-linked hypophosphatemic rickets gene. J. Clin. Endocrinol. Metab. 75:1992;201-206.
11. Econs M.J., Fain P.R., Norman M., Speer M.C., Pericak-Vance M.A., Becker P.A., Barker D.F., Taylor A., Drezner M.K. Flanking markers define the X-linked hypophosphatemic rickets gene locus. J. Bone Mineral Res. 8:1993;1149-1152.
12. Econs M.J., Friedman N.E., Rowe P.S.N., Speer M.C., Francis F., Strom T.M., Oudet C., Lee B., Bergen H. A PHEX gene mutation is responsible for adult onset vitamin D resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatmic rickets (HYP). J. Endocrinol. Metab. 83:1998;3459-3462.
13. Econs M.J., McEnery P.T. Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate wasting disorder. J. Clin. Endocrinol. Metab. 82:1997;674-681.
14. Econs M.J., McEnery P.T., Lennon F., Speer M.C. Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13. J. Clin. Invest. 100:1997;2653-2657.
15. Econs M.J., Pericak-Vance M.A., Betz H., Bartlett R.J., Speer M.C., Drezner M.K. The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene. Genomics. 7:1990;439-441.
16. Hagen F.K., Hazes B., Raffo R., deSa D., Tabak L.A. Structure-function analysis of the UDP-N-acetyl-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase. J. Biol. Chem. 274:(10):1999;6797-6803.
17. Hagen F.K., Nehrke K. cDNA cloning and expression of a family of UDP-N-acetyl-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase sequence homologs from Caenorhabditis elegans. J. Biol. Chem. 273:1998;8268-8277.
18. Hagen F.K., Ten Hagen K.G., Beres T.M., Balys M.M., VanWuyckhuyse B.C., Tabak L.A. cDNA cloning and expression of a novel UDP-N-acetyl-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase. J. Biol. Chem. 272:1997;13 843-13 848.
19. Homa F.L., Hollander T., Lehman D.J., Thomsen D.R., Elhammer A.P. Isolation and expression of a cDNA clone encoding a bovine UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase. J. Biol. Chem. 268:1993;12 609-12 616.
20. McGuire E.J., Roseman S. Enzymatic synthesis of the protein-hexosamine linkage in sheep submaxillary mucin. J. Biol. Chem. 242:1967;3745-3747.
21. Meurer J.A., Naylor J.M., Baker C.A., Thomsen D.R., Homa F.L., Elhammer A.P. cDNA cloning, expression, and chromosomal localization of a human UDP-GalNAc:polypeptide, N-acetylgalactosaminyltransferase. J. Biochem. 118:1995;568-574.
22. Roseman S. The synthesis of complex carbohydrates by multiglycosyltransferase systems and their potential function in intercellular adhesion. Chem. Phys. Lipids. 5:1970;270-297.
23. Sorensen T., White T., Wandall H.H., Kristensen A.K., Roepstorff P., Clausen H. UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase. Identification and separation of two distinct transferase activities. J. Biol. Chem. 270:1995;24 166-24 173.
24. Sugahara T., Pixley M.R., Fares F., Boime I. Characterization of the O-glycosylation sites in the chorionic gonadotropin beta subunit in vivo using site-directed mutagenesis and gene transfer. J. Biol. Chem. 271:1996;20 797-20 804.
25. Ten Hagen K.G., Hagen F.K., Balys M.M., Beres T.M., Van Wuyckhuyse B., Tabak L.A. Cloning and expression of a novel, tissue specifically expressed member of the UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase family. J. Biol. Chem. 273:1998;27 749-27 754.
26. Varki A. Biological roles of oligosaccharides: all of the theories are correct. Glycobiology. 3:1993;97-130.
27. Wandall H.H., Hassan H., Mirgorodskaya E., Kristensen A.K., Roepstorff P., Bennett E.P., Nielsen P.A., Hollingsworth M.A., Burchell J., Taylor-Papadimitriou J., Clausen H. Substrate specificities of three members of the human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase family, galnac-T1, -T2 and -T3. J. Biol. Chem. 19:(272):1997;23 503-23 514.
28. White K.E., Speer M.C., Biber J., Murer H., Econs M.J. Refining the autosomal dominant hypophosphatemic rickets (ADHR) interval on chromosome 12p13 and localization of two candidate ADHR genes. abstract Bone. 23:(5):1998;S379.
29. White T., Bennett E.P., Takio K., Sorensen T., Bonding N., Clausen H. Purification and cDNA cloning of a human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase. J. Biol. Chem. 270:1995;24 156-24 165.
30. Wragg S., Hagen F.K., Tabak L.A. Identification of essential histidine residues in UDP-N-acetyl-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-T1. Biochem. J. 328:1997;193-197.