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Type: Journal article
Title: Cloning and Expression of the Gene Involved in Sanfilippo B Syndrome (Mucopolysaccharidosis III B)
Author: Weber, B.
Blanch, L.
Clements, P.
Scott, H.
Hopwood, J.
Citation: Human Molecular Genetics, 1996; 5(6):771-777
Issue Date: 1996
ISSN: 0964-6906
Abstract: Sanfilippo B syndrome is caused by a deficiency of alpha-N-acetylglucosaminidase, a lysosomal enzyme involved in the degradation of heparan sulphate. Accumulation of the substrate in lysosomes results in degeneration of the central nervous system with progressive dementia often combined with hyperactivity and aggressive behaviour. In order to clone the deficient gene, we purified the enzyme from human placenta and obtained amino acid sequence information. Alignment of one of the CNBr generated internal peptides to sequence from the database revealed the chromosomal location of the gene in the 5' upstream flanking region of the gene for 17-beta-hydroxysteroid-dehydrogenase at 17q21.1. The available DNA sequence was used to clone the cDNA coding for alpha-N-acetylglucosaminidase and analyse its gene structure. The gene is fully contained in the 5' upstream flanking region of the gene for 17-beta-hydroxysteroid-dehydrogenase and interrupted by five introns. The cDNA clone has a length of 2575 bp and encodes a protein of 743 amino acids. Chinese hamster ovary cells transfected with the cDNA construct show alpha-N-acetylglucosaminidase activity about 17-fold over background. This will allow correction studies with NAG deficient Sanfilippo B cell lines and facilitate the development of enzyme replacement therapy for these patients.
Keywords: CHO Cells
Mucopolysaccharidosis III
Recombinant Fusion Proteins
DNA, Complementary
Cloning, Molecular
Gene Expression
Amino Acid Sequence
Base Sequence
Molecular Sequence Data
DOI: 10.1093/hmg/5.6.771
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Appears in Collections:Aurora harvest
Paediatrics publications

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