Genomic Structure of the Human Lysosomal α-Mannosidase Gene (MANB)

• Published in: Genomics (San Diego, Calif.) Calif.), 1997-06, Vol.42 (2), p.200-207
• Main Authors: Riise, Hilde Monica Frostad, Berg, Thomas, Nilssen, Øivind, Romeo, Giovanni, Tollersrud, Ole Kristian, Ceccherini, Isabella
• Format: Article
• Language: English
• Subjects: alpha-Mannosidase; Base Sequence; Biological and medical sciences; Chromosome Mapping; DNA Primers - genetics; DNA, Complementary - genetics; Exons; Fundamental and applied biological sciences. Psychology; Genes. Genome; Genome, Human; Humans; Introns; Lysosomes - enzymology; Mannosidases - genetics; Molecular and cellular biology; Molecular genetics; Molecular Sequence Data; Polymerase Chain Reaction; Repetitive Sequences, Nucleic Acid
• ISSN: 0888-7543; 1089-8646
• DOI: 10.1006/geno.1997.4668

Lysosomal α-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 α-mannosidosis (MIM No. 248500). We determined the genomic organization of the human lysosomal α-mannosidase gene (laman;HGMW-approved symbol MANB) by using oligonucleotide primers designed from the humanlamancDNA 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.