title: Genomic structure of the human lysosomal alpha-mannosidase gene (MANB).
abstract: Lysosomal alpha-mannosidase (LAMAN) (EC 3.2.1.24) is an exoglycosidase involved in the ordered degradation of N-linked oligosaccharides. Lack of LAMAN activity leads to the lysosomal storage disorder alpha-mannosidosis (MIM No. 248500). We determined the genomic organization of the human lysosomal alpha-mannosidase gene (laman; HGMW-approved symbol MANB) by using oligonucleotide primers designed from the human laman cDNA sequence as part of a PCR-based strategy. The gene spanned 21.5 kb and contained 24 exons. By primer extension analysis, the major transcription initiation sites were mapped to positions -309, -196, and -191 relative to the first in-frame ATG. No CAAT or TATA sequences could be identified within 134 bp upstream of the transcription initiation sites, but the 5' flanking region contained several GC-rich regions with putative binding sites for the transcription factors SP-1, AP-2, and ETF.
authors.affiliation: Department of Medical Biochemistry, Institute of Medical Biology, University of Tromsø, Norway. hildefr@fagmed.uit.no
authors.forename: H M
authors.initials: HM
authors.lastname: Riise
authors.forename: T
authors.initials: T
authors.lastname: Berg
authors.forename: O
authors.initials: O
authors.lastname: Nilssen
authors.forename: G
authors.initials: G
authors.lastname: Romeo
authors.forename: O K
authors.initials: OK
authors.lastname: Tollersrud
authors.forename: I
authors.initials: I
authors.lastname: Ceccherini
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D017931:DNA Primers / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons; D015894:Genome, Human; D006801:Humans; D007438:Introns; D008247:Lysosomes / Q000201:enzymology*; D008361:Mannosidases / Q000235:genetics*; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012091:Repetitive Sequences, Nucleic Acid; D043323:alpha-Mannosidase
chemical_list: D017931:DNA Primers; D018076:DNA, Complementary; D008361:Mannosidases; D043323:alpha-Mannosidase