PMID: 9434153Jan 20, 1998Paper

Human galactocerebrosidase gene: promoter analysis of the 5'-flanking region and structural organization

Biochimica Et Biophysica Acta
N SakaiS Okada

Abstract

Galactocerebrosidase (GALC; EC 3.2.1.46) is a lysosomal enzyme which hydrolyzes several galactolipids and the deficiency of GALC is responsible for Krabbe disease. Recently, we cloned cDNAs for human and murine GALC. In this study we characterized the genomic organization and the promoter of the human gene. The gene was about 60 kb in length and consisted of 17 exons as reported by Luzi et al. DNA sequence analysis showed that the 5'-flanking region of the first exon was GC-rich and had not typical TATA-box but ten GC-box-like sequences within a 200 bp sequence upstream from the initiation codon. Another inframe ATG, which has better Kozak consensus sequence, was found at 48 bp upstream to the first ATG reported]. Promoter analysis using a luciferase assay in COS 7 cells showed that the -149 to -112 nucleotide (from the initiation codon A) region has dominant promoter activity. In this region three GC-box-like sequence and one YY1 binding site were detected. Primer extension revealed several transcription start sites within the region of -146 to -103 nucleotide. In this study we firstly demonstrated that the YY1 binding site and subsequent GC-box-like sequences could be a promoter in a housekeeping gene.

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Citations

Jan 26, 2012·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·A MalandriniA Federico
Feb 22, 2001·Pediatric Neurology·E M Kaye
Mar 23, 2005·Molecular Genetics and Metabolism·Xing-Li MengYoshikatsu Eto
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
Apr 5, 2018·Journal of Human Genetics·Kaori Irahara-MiyanaNorio Sakai
Mar 22, 2006·Expert Opinion on Therapeutic Targets·Chi-Chung WangPan-Chyr Yang
Jan 5, 1999·Genome Research·J C JiangS M Jazwinski
Sep 18, 2016·Journal of Neuroscience Research·Norio Sakai, Takanobu Otomo
Oct 17, 2018·Human Genome Variation·Kaori Irahara-MiyanaNorio Sakai

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