Human Molecular Genetics, Vol 6, 717-726, Copyright © 1997 by Oxford University Press
O Nilssen, T Berg, HM Riise, U Ramachandran, G Evjen, GM Hansen, D Malm, L Tranebjaerg and OK Tollersrud
a-Mannosidosis (MIM 248500) is an autosomal recessive lysosomal storage
disorder resulting from deficient activity of lysosomal alpha- mannosidase
(LAMAN) (EC 3.2.1.24). The disease is characterized by massive
intracellular accumulation of mannose-rich oligosaccharides with resulting
mental retardation, hearing loss, immune deficiency and skeletal changes.
We report here the purification and characterization of human placenta
LAMAN. The enzyme is synthesized as a single-chain precursor which is
processed into three glycopeptides of 70, 42 and 15 kDa. The 70 kDa peptide
is further partially proteolysed into three more peptides that are joined
by disulfide bridges. The laman cDNA sequence was assembled from
overlapping fragments obtained by PCR on human fibroblast and human lung
cDNA. The deduced amino acid sequence contains a putative signal peptide of
48 amino acids followed by a polypeptide sequence of 962 amino acids.
Northern blot analyses revealed a single transcript of approximately 3.5 kb
present in all tissues examined but at varying levels. Two affected
siblings of Palestinian origin were homozygous for a mutation that causes a
His-- >Leu replacement at a position which is conserved among class 2
alpha- mannosidases from several species.
ARTICLES
alpha-Mannosidosis: functional cloning of the lysosomal alpha- mannosidase cDNA and identification of a mutation in two affected siblings
Department of Medical Genetics, University Hospital and University of Tromso, Norway. oivindn@fagmed.uit.no
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