Aspartoacylase gene, protein, and methods of screening for mutat

Details Aspartoacylase gene, protein, and methods of screening for mutat Aspartoacylase gene, protein, and methods of screening for mutat

1994-09-09

1997-10-21

Jones, W. Gary

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435 912, 435 691, 4352404, 4352523, 4352542, 4351723, 435 914, 536 241, 536 31, 536 243, 536 2433, C12Q 168, C12P 1934, C07H 2102, C07H 2104

Patent

active

056796358

ABSTRACT:
Canavan disease, an autosomal recessive leukodystrophy, is caused by deficiency of aspartoacylase and accumulation of N-acetylaspartic acid in brain. Human aspartoacylase (ASP) cDNA spanning 1,435 bp has been cloned and expressed in E. coli. A base change, a854>c, has been found in 85% of the 34 Canavan alleles tested so far, which results in a missense glu285>ala mutation that is predicted to be part of the catalytic domain of aspartoacylase. Several additional mutations have also been identified. The invention therefore provides nucleic acid sequences, genes, polypeptides, antibodies, vectors containing the gene, host cells transformed with vectors containing the gene, animal models for the disease, methods for expressing the polypeptide, genetic screening methods and kits, diagnostic methods and kits, methods of treating Canavan disease and methods of genetic therapy for the disease.

REFERENCES:
Rothwell et al, Understanding Genetics; A Molecular Approach (Wiley-Liss) 1993, pp. 264-269.

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