CLONING AND SEQUENCE-ANALYSIS OF CAPRINE N-ACETYLGLUCOSAMINE 6-SULFATASE CDNA

[摘要] Mucopolysaccharidosis IIID results from the deficiency of N-acetylglucosamine 6-sulfatase activity. A Nubian goat with this lysosomal storage disease has been identified. As a first step in developing this animal model for testing treatment methods, we cloned and sequenced the caprine N-acetylglucosamine 6-sulfatase cDNA coding region. Overall there is 88% nucleotide homology between the goat and human sequence and 94% homology of the deduced amino acid sequence. The human and two ruminant species differ by the presence of an imperfect trinucleotide (CCG) repeat in the ruminant signal sequence.

[发布日期] 1995-06-09

[关键词] CAPRINE;N-ACETYLGLUCOSAMINE 6-SULFATASE;CDNA;MUCOPOLYSACCHARIDOSIS IIID;COMPARATIVE GENOMICS;TRINUCLEOTIDE REPEAT;(HUMAN)