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A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant

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dc.contributor.authorBhattacharyya, R.
dc.contributor.authorGliddon, B.
dc.contributor.authorBeccari, T.
dc.contributor.authorHopwood, J.
dc.contributor.authorStanley, P.
dc.date.issued2001
dc.description.abstractSanfilippo syndrome type III A (Mucopolysaccharidosis (MPS) III A) is a rare, autosomal recessive, lysosomal storage disease, characterized by the accumulation of heparan sulfate and the loss of function of lysosomal heparan N-sulfatase activity. The disease leads to devastating mental and physical consequences and a mouse model that can be used to explore gene therapy and enzyme or cell replacement therapies is needed. We have previously identified a mouse with low sulfamidase activity and symptoms and pathologies typical of MPS III A (Bhaumik, M., Muller, V. J., Rozaklis, T., Johnson, L., Dobrenis, K., Bhattacharyya, R., Wurzelmann, S., Finamore, P., Hopwood, J. J., Walkley, S. U., and Stanley, P. [1999] A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome). Glycobiology 9, 1389--1396). We now show that the sulfamidase gene of the MPS III A mouse carries a novel mutation (G91A) that gives an amino acid change (D31N) likely to interfere with the coordination of a divalent metal ion in the active site of this sulfatase. This spontaneous mouse mutant is an excellent model for MPS III A in humans as this disease often arises due to a missense mutation in lysosomal sulfamidase.
dc.identifier.citationGlycobiology, 2001; 11(1):99-103
dc.identifier.doi10.1093/glycob/11.1.99
dc.identifier.issn0959-6658
dc.identifier.issn1460-2423
dc.identifier.urihttp://hdl.handle.net/2440/7303
dc.language.isoen
dc.publisherOxford Univ Press Inc
dc.source.urihttps://doi.org/10.1093/glycob/11.1.99
dc.subjectCHO Cells
dc.subjectLysosomes
dc.subjectAnimals
dc.subjectMice, Inbred C57BL
dc.subjectMice
dc.subjectMucopolysaccharidosis III
dc.subjectDisease Models, Animal
dc.subjectHydrolases
dc.subjectDNA, Complementary
dc.subjectDNA Primers
dc.subjectAmino Acid Sequence
dc.subjectBase Sequence
dc.subjectSequence Homology, Amino Acid
dc.subjectMutation, Missense
dc.subjectMolecular Sequence Data
dc.subjectCricetinae
dc.titleA novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant
dc.typeJournal article
pubs.publication-statusPublished

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