Analysis of the 5' flanking region of the human galactocerebrosidase (GALC) gene

Biochemical and Molecular Medicine

Volumn 62, Issue 2, 1997, Pages 159-164

  Luzi, Paola ^a   Victoria, Teresa ^a   Rafi, Mohammad A ^a   Wenger, David A ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

Chloramphenicol acetyltransferase; Galactosylceramide; Globoid cell leukodystrophy; Inhibitory regions; Krabbe disease; Promotor elements

Indexed keywords

CHLORAMPHENICOL ACETYLTRANSFERASE; GALACTOSYLCERAMIDASE;

ARTICLE; BINDING SITE; DNA FLANKING REGION; DNA PURIFICATION; ENZYME INHIBITION; GENE LOCATION; GENETIC ANALYSIS; GLOBOID CELL LEUKODYSTROPHY; HUMAN; HUMAN CELL; HYDROLYSIS; INTRON; NUCLEOTIDE SEQUENCE; PROMOTER REGION; REPORTER GENE;

EID: 0031405673     PISSN: 10773150     EISSN: None     Source Type: Journal    
DOI: 10.1006/bmme.1997.2643     Document Type: Article

References (28)

1. Wenger D A. Krabbe disease (globoid cell leukodystrophy). The Molecular and Genetic Basis of Neurological Disease. 1997;Butterworth-Heinemann, Boston. p. 421-431.
2. Suzuki K, Suzuki Y, Suzuki K. Galactosylceramide lipidosis: Globoid cell leukodystrophy (Krabbe disease). Scriver C R, Beaudet A L, Sly W S, Valle D. The Metabolic and Molecular Bases of Inherited Disease. 1995;2671-2692 McGraw-Hill, New York.
3. Chen Y Q, Rafi M A, de Gala G, Wenger D A. Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. Hum Mol Genet. 2:1993;1841-1845.
4. Luzi P, Rafi M A, Wenger D A. Structure and organization of the human galactocerebrosidase (GALC) gene. Genomics. 26:1995;407-409.
5. Sakai N, Inui K, Fujii N, Fukushima H, Nishimoto J, Yanagihara I, Isegawa Y, Iwamatsu A, Okada S. Krabbe disease: Isolation and characterization of a full-length cDNA for human galactocerebrosidase. Biochem Biophys Res Commun. 198:1994;485-491.
6. Rafi M A, Luzi P, Chen Y Q, Wenger D A. A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease. Hum Mol Genet. 4:1995;1285-1289.
7. Tatsumi N, Inui K, Sakai N, Fukushima H, Nishimoto J, Yanagihara I, Nishigaki T, Tsukamoto H, Fu L, Taniiki M, Okada S. Molecular defects in Krabbe disease. Hum Mol Genet. 4:1995;1865-1868.
8. Rafi M A, Luzi P, Zlotogora J, Wenger D A. Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. Hum Genet. 97:1996;304-308.
9. De Gasperi R, Gama Sosa M A, Sarorato E L, Battistini S, MacFarlane H, Gusella J F, Krivit W, Kolodny E H. Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy. Am J Hum Genet. 59:1996;1233-1242.
10. Luzi P, Rafi M A, Wenger D A. Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease. Ann Neurol. 40:1996;116-119.
11. Wenger D A, Rafi M A, Luzi P. Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications. Hum Mutat. 10:1997;268-279.
12. Sakai N, Inui K, Tatsumi N, Fukushima H, Nishigaki T, Taniike M, Nishimoto J, Tsukamoto H, Yanagihara, Ozono K, Okada S. Molecular cloning and expression of cDNA for murine galactocerebrosidase and mutation analysis of the twitcher mouse, a model of Krabbe's disease. J Neurochem. 66:1996;1118-1124.
13. Victoria T, Rafi M A, Wenger D A. Cloning of the GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn terriers. Genomics. 33:1996;457-462.
14. Luzi P, Rafi M A, Victoria T, Baskin G B, Wenger D A. Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate. Genomics. 42:1997;319-324.
15. Coetzee T, Li X, Fujita N, Marcus J, Suzuki K, Francke U, Popko B. Molecular cloning, chromosomal mapping, and characterization of the mouse UDP-galactose:ceramide galactosyltransferase gene. Genomics. 35:1996;215-222.
16. Bosio A, Binczek E, Stoffel W. Molecular cloning and characterization of the mouse CGT gene encoding UDP-galactose ceramide-galactosyltransferase (cerebroside synthetase). Genomics. 35:1996;223-226.
17. Kobayashi T, Shinnoh N, Goto I, Kuroiwa Y. Hydrolysis of galactosylceramide is catalyzed by two genetically distinct acid β-galactosidases. J Biol Chem. 269:1985;14982-14987.
18. Quinn M, Hantzopoulos P, Fidanza V, Calhoun D H. A genomic clone containing the promoter for the gene encoding the human lysosomal enzyme, α-galactosidase A. Gene. 58:1987;177-188.
19. Wang A M, Desnick R J. Structural organization and complete sequence of the human α-N. Genomics. 10:1991;133-142.
20. Shipley J M, Miller R D, Wu B M, Grubb J H, Christensen S G, Kyle J W, Sly W S. Analysis of the 5′ flanking region of the human β-glucuronidase gene. Genomics. 10:1991;1009-1018.
21. Morreau H, Bonten E, Zhou X Y, d'Azzo A. Organization of the gene encoding human lysosomal β-galactosidase. DNA Cell Biol. 10:1991;495-504.
22. Modaressi S, Rupp K, von Figura K, Peters C. Structure of the arylsulfatase B gene. Biol Chem Hoppe-Seyler. 374:1993;327-335.
23. Norflus F, Yamanaka S, Proia R L. Promoters for the human β-hexosaminidase genes, HEXA and HEXB. DNA Cell Biol. 15:1996;89-97.
24. Riise H MF, Berg T, Nilssen O, Romeo G, Tollersrud O K, Ceccherini I. Genomic structure of the human lysosomal α-mannosidase gene (MANB). Genomics. 42:1997;200-207.
25. Chen Y Q, Wenger D A. Galactocerebrosidase from human urine: purification and partial characterization. Biochim Biophys Acta. 1170:1993;53-61.
26. Sanger F, Nickelson J, Coulson A R. DNA sequencing with chain termination. Proc Natl Acad Sci USA. 74:1977;5463-5467.
27. Lowry O H, Rosenbrough N J, Farr A L, Randall R. Protein measurement with the Folin phenol reagent. J Biol Chem. 193:1951;265-275.
28. Kozak M. The scanning model for translation: An update. J Cell Biol. 108:1989;229-241.