Human Molecular Genetics, Vol 7, 75-83, Copyright © 1998 by Oxford University Press
AH Alkhayat, SA Kraemer, JR Leipprandt, M Macek, WJ Kleijer and KH Friderici
Human beta-mannosidosis is an autosomal recessive, lysosomal storage
disease caused by a deficiency of the enzyme beta-mannosidase. Unlike the
severe clinical manifestation of the disease in ruminants, in which it
leads to neonatal death, the human disease phenotype is generally milder.
In addition, the phenotypic manifestation among the reported cases of human
beta-mannosidosis is variable, even among members of the same family. To
understand the molecular basis of the human disease and the mechanisms for
such clinical variability, we sequenced the entire coding region of the
human beta-mannosidase gene using a combination of cDNA library screening,
RT-PCR and 5' rapid amplification of cDNA ends (RACE). The composite cDNA
is 3293 nt, consisting of an 87 nt 5'- untranslated region, 2640 nt coding
region and 566 nt 3'-untranslated region. The gene was localized to human
chromosome 4q22-25. Analysis of a multiple tissue northern blot
demonstrated a single 3.7 kb transcript. Mutation analysis of a Czech gypsy
family with two siblings differently affected with beta-mannosidosis
demonstrated a homozygous A- ->G transition 2 bp upstream of a splice
acceptor site. The associated cryptic splice site activation and exon
skipping caused by this mutation resulted in two abnormally spliced mutant
mRNA species in both siblings.
ARTICLES
Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis
Department of Pathology, Michigan State University, East Lansing, MI 48824, USA.
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