Cloning and sequence analysis of a cDNA encoding the alpha-subunit of mouse beta-N-acetylhexosaminidase and comparison with the human enzyme.
cDNAs encoding the mouse beta-N-acetylhexosaminidase alpha-subunit were isolated from a mouse testis library. The longest of these (1.7 kb) was sequenced and showed 83% similarity with the human alpha-subunit cDNA sequence. The 5' end of the coding sequence was obtained from a genomic DNA clone. Alignment of the human and mouse sequences showed that all three putative N-glycosylation sites are conserved, but that the mouse alpha-subunit has an additional site towards the C-terminus. All eight cysteines in the human sequence are conserved in the mouse. There are an additional two cysteines in the mouse alpha-subunit signal peptide. All amino acids affected in Tay-Sachs-disease mutations are conserved in the mouse.
Beccari
T
T
Dipartimento di Medicina Sperimentale e Scienze Biochimiche, Universita di Perugia, Italy.
Hoade
J
J
Orlacchio
A
A
Stirling
J L
JL
D000595:Amino Acid Sequence; D000818:Animals; D015152:Blotting, Northern; D003001:Cloning, Molecular; D004247:DNA; D006801:Humans; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D012313:RNA / Q000378:metabolism; D015183:Restriction Mapping; D016415:Sequence Alignment; D013661:Tay-Sachs Disease / Q000235:genetics; D013737:Testis / Q000378:metabolism; D001619:beta-N-Acetylhexosaminidases / Q000235:genetics*
D012313:RNA; D004247:DNA; D001619:beta-N-Acetylhexosaminidases