Bibliographic Citation
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| Title | Lysosomal {beta}-mannosidase: cDNA cloning and characterization |
| Creator/Author | Chen, H. ; Leipprandt, J.R. ; Traviss, C.E. [Michigan State Univ., East Lansing, MI (United States)] [and others] |
| Publication Date | 1994 Sep 01 |
| OSTI Identifier | OSTI ID: 133824 |
| Report Number(s) | CONF-941009-- |
| Other Number(s) | Journal ID: AJHGAG; ISSN 0002-9297; TRN: TRN: 95:005313-0557 |
| Resource Type | Journal Article |
| Resource Relation | Journal Name: American Journal of Human Genetics; Journal Volume: 55; Journal Issue: Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994 |
| Subject | 55 BIOLOGY AND MEDICINE, BASIC STUDIES; GENES; DNA-CLONING; TRANSCRIPTION; HUMAN CHROMOSOMES; GENETIC MAPPING; MANNOSE; SOMATIC CELLS; HYBRIDIZATION; GOATS; NERVOUS SYSTEM DISEASES; CATTLE; OLIGONUCLEOTIDES; AMINO ACIDS; DNA SEQUENCING; PHENOTYPE; PROBES; DNA HYBRIDIZATION; FLUORESCENCE; OLIGOSACCHARIDES; GLYCOPROTEINS; PEPTIDES |
| Description/Abstract | Lysosomal {beta}-mannosidase is an exoglycosidase that cleaves the single {beta}-linked mannose residue from the non-reducing end of all N-linked glycoprotein oligosaccharides. Deficiency of this enzyme results in {beta}-mannosidosis, a severe neurodegenerative disease in goats and cattle. The human cases described have a milder, highly variable presentation. Study of the molecular pathology of this disease in ruminants and humans and development of the animal model for gene therapy studies required cloning of the gene for {beta}-mannosidase has been cloned. {beta}-Mannosidase cDNA were obtained from a bovine thyroid cDNA library by screening with mixed oligonucleotides derived from peptide sequences resulting from microsequencing of bovine {beta}-mannosidase peptides. A total of six independent positive clones were identified from 5 x 10{sup 5} plaques, covering about 80% of the C-terminal region. The missing 5{prime} region was obtained using 5{prime} RACE. The full-length construct contains 3852-bp nucleotides, encoding 879 amino acids. The initiation codon is followed by 17 amino acids containing the characteristics of a typical signal peptide sequence. The deduced amino acid sequence is colinear with all peptide sequences determined by protein microsequencing. Northern blot analysis demonstrated a 4.2 kb single transcript in various tissues from both normal and affected goats and calves. The mRNA level was decreased in affected {beta}-mannosidosis animals. The gene encoding {beta}-mannosidase was localized on human chromosome 4 by Southern analysis of rodent/human somatic cell hybrids. The mutation in bovine {beta}-mannosidosis has been identified. This is the first report of cloning of the {beta}-mannosidase gene. |
| Country of Publication | United States |
| Language | English |
| Format | Medium: X; Size: pp. A130.744 |
| System Entry Date | 2008 Feb 04 |
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Last Updated: 11/19/2009