title: Characterization of the murine beta-hexosaminidase (HEXB) gene.
abstract: The murine HEXB gene, encoding the beta-subunit of the lysosomal hydrolase, beta-hexosaminidase, was isolated from a mouse cosmid library as a single cosmid clone. The entire gene spans 22 kb, considerably less than the 40 kb spanned by its human counterpart. It is highly homologous to the human gene. The 14 intron-exon junctions are entirely conserved, although the intron sequences diverge rapidly. Upstream of the coding region, a 1.3 kb segment was sequenced and shown to function as a promoter when fused with a reporter gene and expressed in monkey COS-7 cells. A short sequence (100 bp), near the start of the coding region, exhibits strong homology to the human HEXB promoter. Analysis of the tissue distribution of the HEXB mRNA in 129/Sv male mice revealed up to 28-fold tissue-specific variations in transcript levels. The kidney and the epididymis had the highest mRNA levels consistent with past surveys of enzyme activity.
authors.affiliation: McGill University-Montreal Children's Hospital Research Institute, Canada.
authors.forename: B L
authors.initials: BL
authors.lastname: Triggs-Raine
authors.forename: G
authors.initials: G
authors.lastname: Benoit
authors.forename: T J
authors.initials: TJ
authors.lastname: Salo
authors.forename: J M
authors.initials: JM
authors.lastname: Trasler
authors.forename: R A
authors.initials: RA
authors.lastname: Gravel
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002460:Cell Line; D003360:Cosmids; D005091:Exons; D000882:Haplorhini; D054819:Hexosaminidase B; D007438:Introns; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D012333:RNA, Messenger / Q000032:analysis; D012497:Sandhoff Disease / Q000235:genetics; D016415:Sequence Alignment; D001619:beta-N-Acetylhexosaminidases / Q000235:genetics*
chemical_list: D012333:RNA, Messenger; D054819:Hexosaminidase B; D001619:beta-N-Acetylhexosaminidases