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PMID: 2268276 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Characterization of the human lysosomal alpha-glucosidase gene.

The Biochemical journal ·Vol. 272 ·No. 2 ·1990-12-01 ·Pages 493-7

Hoefsloot LH, Hoogeveen-Westerveld M, Reuser AJ, Oostra BA

Abstract

The gene coding for human lysosomal alpha-glucosidase was cloned and its structure was determined. The gene is approx. 20 kb long, and contains 20 exons. The first exon is non-coding. The coding sequence of the putative catalytic site domain is interrupted in the middle by an intron of 101 bp. This intron is not conserved in the highly similar region of the human and rabbit isomaltase genes. The promoter region was defined by a CAT assay and the start of the mRNA was determined by primer extension. The promoter has features characteristic of a 'housekeeping' gene. The GC content is high (80%) and distinct TATA and CCAAT motifs are lacking. Two potential binding sites for the AP-2 transcription factor are present. Four potential Sp-1 binding sites are located downstream of the 5' end of the mRNA.

MeSH Terms
Animals Base Sequence Binding Sites Chloramphenicol O-Acetyltransferase/genetics,metabolism DNA/blood,genetics,isolation & purification Exons Fibroblasts/enzymology Gene Library Genes Humans Introns Liver/enzymology Lysosomes/enzymology Molecular Sequence Data Oligonucleotide Probes Polymerase Chain Reaction Promoter Regions, Genetic Rabbits Recombinant Fusion Proteins/metabolism Restriction Mapping alpha-Glucosidases/genetics,metabolism
Chemicals
Oligonucleotide Probes Recombinant Fusion Proteins DNA Chloramphenicol O-Acetyltransferase alpha-Glucosidases
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Hoefsloot L H
MGC-Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands.
Hoogeveen-Westerveld M
Reuser A J
Oostra B A
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Article Info
Journal
The Biochemical journal
Abbr.
Biochem J
ISSN
0264-6021
DOI
10.1042/bj2720493
Published
1990-12-01
Pages
493-7
Language
English
Region
England
NLM ID
2984726R
PMCID
PMC1149727
Subset
IM
Databases
GENBANK
X55079, X55080, X55081, X55082, X55083, X55084, X55085, X55086, X55087, X55088
External Links
PubMed source DOI: 10.1042/bj2720493 PMC Full Text View journal details
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