PMID: 9441867Jan 27, 1998Paper

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

Biochemical and Molecular Medicine
P LuziD A Wenger

Abstract

Galactocerebrosidase (GALC) is the lysosomal enzyme deficient in human and certain animal species with globoid cell leukodystrophy (GLD) or Krabbe disease. It catalyzes the hydrolysis of specific galactolipids including galactosylceramide and psychosine. The GALC protein is found in very low amounts in all tissues, which delayed its purification and the subsequent cloning of its cDNA and gene. We previously published the exon-intron organization of the human gene, but did not functionally analyze the 5' flanking region. We now provide a description of this GC-rich region which includes one potential YY1 element and one potential SP1 binding site. There are 13 GGC trinucleotides within the first 150 bp preceding the initiation codon. The 5' end of intron 1 contains six potential Sp1 binding sites, one AP1 binding site, and eight AP2 binding sites. A construct containing nucleotides -176 to -24 had the strongest promoter activity using a vector containing the chloramphenicol acetyltransferase reporter gene. We also provide evidence for the presence of inhibitory sequences located immediately upstream of the promoter region, and within the first 234 nucleotides of intron 1. These elements together with a suboptimal nucleotide at p...Continue Reading

References

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Citations

Apr 2, 2005·British Journal of Haematology·Philipp S GoerttlerHeike L Pahl
Aug 17, 1999·Biochemical Pharmacology·L H Naylor
Jun 2, 2000·Molecular Genetics and Metabolism·D A WengerE Costantino-Ceccarini
Apr 27, 2005·Molecular Therapy : the Journal of the American Society of Gene Therapy·Mohammad A RafiDavid A Wenger
Dec 22, 1999·International Journal of Cancer. Journal International Du Cancer·T GöröghJ A Werner

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