Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.
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Kaul R, Gao GP, Balamurugan K, Matalon R
Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.
Nat Genet. 1993 Oct;5(2):118-23.
- PubMed ID
- 8252036 [ View in PubMed]
- Abstract
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.