An inversion of 25 base pairs causes feline GM2 gangliosidosis variant 0

Experimental Neurology

Volumn 187, Issue 1, 2004, Pages 30-37

  Martin, Douglas R ^a   Krum, Barbara K ^a   Varadarajan, G S ^a   Hathcock, Terri L ^a   Smith, Bruce F ^a   Baker, Henry J ^a  

^a AUBURN UNIVERSITY   (United States)

Author keywords

Animal model; Antibody; Feline; Gangliosidosis; GM2 ganglioside; Hexosaminidase; Inversion; Mutation; Quantitative RT PCR; Sandhoff disease

Indexed keywords

AMINO ACID; BETA N ACETYLHEXOSAMINIDASE; MESSENGER RNA;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; BASE PAIRING; CARBOXY TERMINAL SEQUENCE; CAT; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENE SEQUENCE; GM2 GANGLIOSIDOSIS; HOMOZYGOSITY; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; TRANSLATION REGULATION;

ANIMALS; ANTIBODY SPECIFICITY; BASE SEQUENCE; BETA-N-ACETYLHEXOSAMINIDASE; BLOTTING, WESTERN; CATS; CELLS, CULTURED; DISEASE MODELS, ANIMAL; DNA MUTATIONAL ANALYSIS; FIBROBLASTS; INVERSION, CHROMOSOME; KIDNEY; MOLECULAR SEQUENCE DATA; PROTEIN SUBUNITS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SANDHOFF DISEASE;

EID: 1842714246     PISSN: 00144886     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.expneurol.2004.01.008     Document Type: Article

References (39)

1. Baker H.J., Lindsey J.R., McKhann G.M., Farrell D.F. Neuronal GM1 gangliosidosis in a Siamese cat with beta-galactosidase deficiency. Science. 174:1971;838-839.
2. Baker H.J., Reynolds G.D., Walkley S.U., Cox N.R., Baker G.H. The gangliosidoses: comparative features and research applications. Vet. Pathol. 16:1979;635-649.
3. Brown C.A., Mahuran D.J. Active arginine residues in beta-hexosaminidase. Identification through studies of the B1 variant of Tay-Sachs disease. J. Biol. Chem. 266:1991;15855-15862.
4. Cork L.C., Munnell J.F., Lorenz M.D., Murphy J.V., Baker H.J., Rattazzi M.C. GM2 ganglioside lysosomal storage disease in cats with beta-hexosaminidase deficiency. Science. 196:1977;1014-1017.
5. Cox N.R., Ewald S.J., Morrison N.E., Gentry A.S., Schuler M., Baker H.J. Thymic alterations in feline GM1 gangliosidosis. Vet. Immunol. Immunopathol. 63:1998;335-353.
6. Cox N.R., Morrison N.E., Sartin J.L., Buonomo F.C., Steele B., Baker H.J. Alterations in the growth hormone/insulin-like growth factor I pathways in feline GM1 gangliosidosis. Endocrinology. 140:1999;5698-5704.
7. De Gasperi R., Gama Sosa M.A., Grebner E.E., Mansfield D., Battistini S., Sartorato E.L., Raghavan S.S., Davis J.G., Kolodny E.H. Substitution of alanine543 with a threonine residue at the carboxy terminal end of the beta-chain is associated with thermolabile hexosaminidase B in a Jewish family of Oriental ancestry. Biochem. Mol. Med. 56:1995;31-36.
8. Deutz-Terlouw P.P., Losekoot M., Olmer R., Pieneman W.C., de V., Weerd S., Briet E., Bakker E. Inversions in the factor VIII gene: improvement of carrier detection and prenatal diagnosis in Dutch haemophilia A families. J. Med. Genet. 32:1995;296-300.
9. Dlott B., d'Azzo A., Quon D.V., Neufeld E.F. Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidase. J. Biol. Chem. 265:1990;17921-17927.
10. Frischmeyer P.A., Dietz H.C. Nonsense-mediated mRNA decay in health and disease. Hum. Mol. Genet. 8:1999;1893-1900.
11. M2 gangliosidoses. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The Metabolic and Molecular Bases of Inherited Disease. 1995;2839-2879 McGraw-Hill, New York.
12. Jope R.S., Baker H.J., Connor D.J. Increased acetylcholine synthesis and release in brains of cats with GM1 gangliosidosis. J. Neurochem. 46:1986;1567-1572.
13. Koivisto U.M., Kontula K. A novel deletion/inversion mutation in the low-density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia. Hum. Mutat. 8:1996;326-332.
14. Lakich D., Kazazian H.H.J., Antonarakis S.E., Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat. Genet. 5:1993;236-241.
15. Leutenegger C.M., Mislin C.N., Sigrist B., Ehrengruber M.U., Hofmann-Lehmann R., Lutz H. Quantitative real-time PCR for the measurement of feline cytokine mRNA. Vet. Immunol. Immunopathol. 71:1999;291-305.
16. Liessem B., Glombitza G.J., Knoll F., Lehmann J., Kellermann J., Lottspeich F., Sandhoff K. Photoaffinity labeling of human lysosomal beta-hexosaminidase B. Identification of Glu-355 at the substrate binding site. J. Biol. Chem. 270:1995;23693-23699.
17. Lozier J.N., Dutra A., Pak E., Zhou N., Zheng Z., Nichols T.C., Bellinger D.A., Read M., Morgan R.A. The Chapel Hill hemophilia A dog colony exhibits a factor VIII gene inversion. Proc. Natl. Acad. Sci. U. S. A. 99:2002;12991-12996.
18. Mahuran D.J. Beta-hexosaminidase: biosynthesis and processing of the normal enzyme, and identification of mutations causing Jewish Tay-Sachs disease. Clin. Biochem. 28:1995;101-106.
19. Mahuran D.J. Biochemical consequences of mutations causing the GM2 gangliosidoses. Biochim. Biophys. Acta. 1455:1999;105-138.
20. Mahuran D.J., Neote K., Klavins M.H., Leung A., Gravel R.A. Proteolytic processing of pro-alpha and pro-beta precursors from human beta-hexosaminidase. Generation of the mature alpha and beta a beta b subunits. J. Biol. Chem. 263:1988;4612-4618.
21. Mark B.L., Mahuran D.J., Cherney M.M., Zhao D., Knapp S., James M.N. Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease. J. Mol. Biol. 327:2003;1093-1109.
22. Martin, D.R., 1999. Gene Therapy of the Gangliosidoses (dissertation). Auburn University, Auburn, AL.
23. McCluskie M.J., Weeratna R.D., Payette P.J., Davis H.L. Parenteral and mucosal prime-boost immunization strategies in mice with hepatitis B surface antigen and CpG DNA. FEMS Immunol. Med. Microbiol. 32:2002;179-185.
24. Muldoon L.L., Neuwelt E.A., Pagel M.A., Weiss D.L. Characterization of the molecular defect in a feline model for type II GM2-gangliosidosis (Sandhoff disease). Am. J. Pathol. 144:1994;1109-1118.
25. Narkis G., Adam A., Jaber L., Pennybacker M., Proia R.L., Navon R. Molecular basis of heat labile hexosaminidase B among Jews and Arabs. Hum. Mutat. 10:1997;424-429.
26. Neote K., Bapat B., Dumbrille-Ross A., Troxel C., Schuster S.M., Mahuran D.J., Gravel R.A. Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase. Genomics. 3:1988;279-286.
27. Neuwelt E.A., Johnson W.G., Blank N.K., Pagel M.A., Maslen-McClure C., McClure M.J., Wu P.M. Characterization of a new model of GM2-gangliosidosis (Sandhoff's disease) in Korat cats. J. Clin. Invest. 76:1985;482-490.
28. Pennybacker M., Schuette C.G., Liessem B., Hepbildikler S.T., Kopetka J.A., Ellis M.R., Myerowitz R., Sandhoff K., Proia R.L. Evidence for the involvement of Glu-355 in the catalytic action of human beta-hexosaminidase B. J. Biol. Chem. 272:1997;8002-8006.
29. Proia R.L., d'Azzo A., Neufeld E.F. Association of alpha- and beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts. J. Biol. Chem. 259:1984;3350-3354.
30. Quon D.V.K., Proia R.L., Fowler A.V., Bleibaum J., Neufeld E.F. Proteolytic processing of the beta-subunit of the lysosomal enzyme, beta-hexosaminidase, in normal human fibroblasts. J. Biol. Chem. 264:1989;3380-3384.
31. Sango K., Yamanaka S., Hoffmann A., Okuda Y., Grinberg A., Westphal H., McDonald M.P., Crawley J.N., Sandhoff K., Suzuki K. Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism. Nat. Genet. 11:1995;170-176.
32. Steiss J.E., Baker H.J., Braund K.G., Cox N.R., Wright J.C. Profile of electrodiagnostic abnormalities in cats with GM1 gangliosidosis. Am. J. Vet. Res. 58:1997;706-709.
33. Torra R., Viribay M., Telleria D., Badenas C., Watson M., Harris P., Darnell A., San Millan J.L. Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease. Kidney Int. 56:1999;28-33.
34. Triggs-Raine B.L., Benoit G., Salo T.J., Trasler J.M., Gravel R.A. Characterization of the murine beta-hexosaminidase (HEXB) gene. Biochim. Biophys. Acta. 1227:1994;79-86.
35. Tse R., Wu Y.J., Vavougios G., Hou Y., Hinek A., Mahuran D.J. Identification of functional domains within the alpha and beta subunits of beta-hexosaminidase A through the expression of alpha-beta fusion proteins. Biochemistry. 35:1996;10894-10903.
36. Walkley S.U., Baker H.J., Rattazzi M.C., Haskins M.E., Wu J.Y. Neuroaxonal dystrophy in neuronal storage disorders: evidence for major GABAergic neuron involvement. J. Neurol. Sci. 104:1991;1-8.
37. Wood P.A., McBride M.R., Baker H.J., Christian S.T. Fluorescence polarization analysis, lipid composition, and Na+, K+-ATPase kinetics of synaptosomal membranes in feline GM1 and GM2 gangliosidosis. J. Neurochem. 44:1985;947-956.
38. Yamanaka S., Johnson O.N., Norflus F., Boles D.J., Proia R.L. Structure and expression of the mouse beta-hexosaminidase genes Hexa and Hexb. Genomics. 21:1994;588-596.
39. Zar J.H. Biostatistical Analysis. Second ed. 1984;97-104 Prentice-Hall, Englewood Cliffs, NJ.