TY - JOUR
T1 - Genomic structure of the human lysosomal α-mannosidase gene (MANB)
AU - Riise, Hilde Monica Frostad
AU - Berg, Thomas
AU - Nilssen, Øivind
AU - Romeo, Giovanni
AU - Tollersrud, Ole Kristian
AU - Ceccherini, Isabella
PY - 1997/6/1
Y1 - 1997/6/1
N2 - 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 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.
AB - 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 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.
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U2 - 10.1006/geno.1997.4668
DO - 10.1006/geno.1997.4668
M3 - Article
C2 - 9192839
AN - SCOPUS:0031172071
VL - 42
SP - 200
EP - 207
JO - Genomics
JF - Genomics
SN - 0888-7543
IS - 2
ER -