Modulating action of the new polymorphism L436F detected in the GLB1 gene of type-II GM1 gangliosidosis patient

Human Genetics

Volumn 113, Issue 1, 2003, Pages 44-50

  Caciotti, Anna ^a   Bardelli, Tiziana ^a   Cunningham, John ^b   D'Azzo, Alessandra ^b   Zammarchi, Enrico ^a   Morrone, Amelia ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

^b ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GALACTOSIDASE; PRIMER DNA;

ALLELE; ANIMAL CELL; ARTICLE; CASE REPORT; CONTROLLED STUDY; DISEASE CLASSIFICATION; DISEASE COURSE; DISEASE DURATION; ENZYME ACTIVITY; GENE EXPRESSION; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC TRANSFECTION; GM1 GANGLIOSIDOSIS; HUMAN; LEUKOCYTE COUNT; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SEQUENCE ANALYSIS; WESTERN BLOTTING; AMINO ACID SUBSTITUTION; ANIMAL; CELL STRAIN COS1; CERCOPITHECUS; ENZYMOLOGY; GENETICS; INFANT; LEUKOCYTE; MALE; POLYMERASE CHAIN REACTION; SITE DIRECTED MUTAGENESIS;

ALLELES; AMINO ACID SUBSTITUTION; ANIMALS; BETA-GALACTOSIDASE; BLOTTING, WESTERN; CERCOPITHECUS AETHIOPS; COS CELLS; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; GANGLIOSIDOSIS, GM1; HUMANS; INFANT; LEUKOCYTES; MALE; MUTAGENESIS, SITE-DIRECTED; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; TRANSFECTION;

EID: 0037594905     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-003-0930-8     Document Type: Article

References (34)

1. Bonten EJ, Van Der Spoel A, Fornerod M, Grosveld G, D'Azzo A (1996) Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. Genes Dev 10:3156-3169
2. Boustany RM, Quian WH, Suzuki K (1993) Mutations in acid β-galactosidase cause GM1-gangliosidosis in American patients. Am J Hum Genet 53:881-888
3. Chakraborty S, Rafi MA, Wenger DA (1994) Mutations in the lysosomal β-galactosidase gene that cause the adult form of GM1-gangliosidosis. Am J Hum Genet 54:1004-1013
4. Den Dunnen JT, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121-124
5. Galjaard H (1980) Genetic Metabolic Diseases Early Diagnosis and Prenatal Analysis. Elsevier/North Holland Biochemical Press, Amsterdam, pp 825
6. Hara Y, Nishimoto J, Suzuki K (1994) Effects of double amino-acid substitution polymorphism in acid beta-galactosidase gene in two inbred strains of mice. Biochim Biophys Acta 1217:49-53
7. Hinek A (1996) Biological roles of the non-integrin elastin/laminin receptor. Biol Chem 377:471-480
8. Hinek A, Rabinovitch M, Keeley F, Okamura-Oho Y, Callahan J (1993) The 67-kD elastin/laminin-binding protein is related to an enzymatically inactive, alternatively spliced form of beta-galactosidase. J Clin Invest 91:1198-1205
9. Hinek A, Wilson SE (2000) Impaired elastogenesis in Hurler disease: Dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly. Am J Pathol 156:925-938
10. Hinek A, Smith AC, Cutiongco EM, Callahan JW, Gripp KW, Weksberg R (2000a) Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein. Am J Hum Genet 66:859-872
11. Hinek A, Zhang S, Smith AC, Callahan JW (2000b) Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase. Am J Hum Genet 67:4-7
12. Kaye E, Shalish C, Livermore J, Taylor HA, Stevenson R, Breakefield O (1997) β-Galactosidase gene mutations in patient with slowly progressive GM1-gangliosidosis. J Child Neurol 12:242-247
13. Lowry OH, Rosebrough NJ, Farr AL, Randall RJ (1951) Protein measurement with the Folin phenol method. J Biol Chem 193: 265
14. Mecham RP, Hinek A, Entwistle R, Wrenn DS, Griffin GL, Senior RM (1989) Elastin binds to a multifunctional 67-kilodalton peripheral membrane protein. Biochemistry 28:3716-3722
15. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
16. Mochizuki S, Brassart B, Hinek A (2002) Signaling pathways transduced through elastin receptor facilitate proliferation of arterial smooth muscle cells. J Biol Chem 277:44854-44863
17. Morreau H, Galjart NJ, Gillemans N, Willemsen R, Van Der Horst GTJ, D'Azzo A (1989) Alternative splicing of β-galactosidase mRNA generates the classic lysosomal enzyme and a β-galactosidase-related protein. J Biol Chem 264:20655-20663
18. Morreau H, Bonten E, Zhou XY, D'Azzo A (1991) Organization of the gene encoding human lysosomal β-galactosidase. DNA Cell Biol 10:495-504
19. Morrone A, Bardelli T, Donati MA, Giorgi M, Di Rocco M, Gatti R, Parini R, Ricci R, Taddeucci G, D'Azzo A, Zammarchi E (2000) Beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. Hum Mutat 15:354-366
20. Nishimoto JE, Namba E, Okada S, Suzuki K (1991) Gm1-gangliosidosis (genetic beta-galactosidase deficiency): Identification of four mutations in different clinical phenotypes among Japanese patients. Am J Hum Genet 49:566-574
21. Okamura-Oho Y, Zhang SQ, Hilson W, Hinek A, Callahan JW (1996) Early proteolytic cleavage with loss of a C-terminal fragment underlies altered processing of the β-galactosidase precursor in galactosialidosis. Biochem J 313:787-794
22. Oshima A, Tsuji A, Nagao Y, Sakuraba H, Suzuky Y (1988) Cloning, sequencing, and expression of cDNA for human β-galactosidase. Biochem Biophys Res Commun 157:238-244
23. Oshima A, Yoshida K, Itoh K, Kase R, Sakuraba H, Suzuki Y (1994) Intracellular processing and maturation of mutant gene products in hereditary β-galactosidase deficiency (β-galactosidosis). Hum Genet 93:109-114
24. Paschke E, Milos I, Kreimer-Erlacher H, Hoefler G, Beck M, Hoeltzenbein M, Kleijer W, Levade T, Michelakakis H, Radeva B (2001) Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: Three novel point mutations and high correlation of mutation W273L with Morquio disease type B. Hum Genet 109:159-166
25. Povey S, Lovering R, Bruford E, Wright M, Lush M, Wain H (2001) The HUGO Gene Nomenclature Committee (HGNC). Hum Genet 109:678-680
26. Privitera S, Prody CA, Callhan JW, Hinek A (1998) The 67 kDa enzymatically inactive alternatively spliced variant of β-galactosidase is identical to the elastin/laminin-binding protein. J Biol Chem 273:6319-6326
27. Pshezhetsky AV, Ashmarina M (2001) Lysosomal multienzyme complex: Biochemistry, genetics, and molecular pathophysiology. Prog Nucleic Acid Res Mol Biol 69:81-114
28. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular Cloning. A Laboratory Manual, 2nd edn. Cold Spring Laboratory Press, New York, section 16.42-16.44
29. Suzuki Y, Oshima A, Namba E (2001) β-Galactosidase deficiency (β-galactosidosis): GM1-gangliosidosis and Morquio B disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, pp 3775-3809
30. Van Der Spoel A, Bonten E, D'Azzo A (2000) Processing of lysosomal β-galactosidase. J Biol Chem 275:10035-10040
31. Van Dongen JM, Willemsen R, Ginns EI, Sips HJ, Tager JM, Barranger JA, Reuser AJ (1985) The subcellular localization of soluble and membrane-bound lysosomal enzymes in I-cell fibroblast: A comparative immunocytochemical study. Eur J Cell Biol 39:179-189
32. Yamamoto Y, Hake CA, Martin BM, Kretz KA, Ahernrindell AJ, Naylor SL, Mudd M, O'Brien JS (1990) Isolation, characterization and mapping of human acid beta-galactosidase cDNA. DNA Cell Biol 9:19-27
33. Yoshida K, Oshima A, Shimmoto M, Fukuhara Y, Sakuraba H, Yanagisawa N, Suzuki Y (1991) Human beta-galactosidase gene mutations in GM1-gangliosidosis: A common mutation among Japanese adult/chronic cases. Am J Hum Genet 49:435-442
34. Zhang S, McCarter JD, Okamura-Oho Y, Yaghi F, Hinek A, Withers SG, Callahan JW (1994) Kinetic mechanism and characterization of human b-galactosidase precursor secreted by permanently transfected Chinese hamster ovary cells. Biochem J 304:281-288