PT - JOURNAL ARTICLE AU - B J Skelly AU - D R Sargan AU - M E Herrtage AU - B G Winchester TI - The molecular defect underlying canine fucosidosis. AID - 10.1136/jmg.33.4.284 DP - 1996 Apr 01 TA - Journal of Medical Genetics PG - 284--288 VI - 33 IP - 4 4099 - http://jmg.bmj.com/content/33/4/284.short 4100 - http://jmg.bmj.com/content/33/4/284.full SO - J Med Genet1996 Apr 01; 33 AB - Fucosidosis is a lysosomal storage disease which affects humans and English springer spaniel dogs. The disease is recessively inherited in both species and results from a deficiency of the enzyme alpha-L-fucosidase. We have recently cloned and sequenced the canine fucosidase gene (EMBL sequence admission number X92448 (cDNA) and X92671-X92678 (individual exonic data)). The gene spans 12 kb and consists of eight exons. SSCP based mutation analysis of affected animals was carried out on the coding region of this gene both with exonic primers, and intronic primer pairs for each exon. A 14 base pair deletion of the cDNA was identified at the 3' end of exon 1 in fucosidosis affected animals. Surprisingly, PCR based genomic cloning of DNA from these animals showed an identical deletion in this DNA, ending at the start of intron 1. This change causes a frameshift and, in consequence, 25 novel codons are transcribed in exon 2 before the first of two adjacent premature stop codons is encountered.