RGD Reference Report - Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. - Rat Genome Database

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Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.

Authors: Kaul, R  Gao, GP  Balamurugan, K  Matalon, R 
Citation: Kaul R, etal., Nat Genet. 1993 Oct;5(2):118-23.
RGD ID: 1599291
Pubmed: (View Article at PubMed) PMID:8252036
DOI: Full-text: DOI:10.1038/ng1093-118

Canavan disease, an autosomal recessive leukodystrophy, is caused by deficiency of aspartoacylase and accumulation of N-acetylaspartic acid in brain. We have cloned the human aspartoacylase (ASP) cDNA spanning 1,435 basepairs, and show that the isolated cDNA expresses aspartoacylase activity in bacteria. Furthermore, an A to C base change, at nucleotide 854, has been found in 85% of the 34 Canavan alleles tested so far. This base change results in a missense Glu285Ala mutation that is predicted to be part of the catalytic domain of aspartoacylase. The data suggest that the catalytic centre of aspartoacylase involves a triad of Ser, His and Glu residues. Our findings have implications for diagnosis and screening of Canavan disease.

Annotation

Disease Annotations    
Canavan disease  (IAGP,ISO)

Objects Annotated

Genes (Rattus norvegicus)
Aspa  (aspartoacylase)

Genes (Mus musculus)
Aspa  (aspartoacylase)

Genes (Homo sapiens)
ASPA  (aspartoacylase)


Additional Information