Biomaterial Database

Molecular cloning of a cDNA for human alpha-L-fucosidase. 1985

H Fukushima, and J R de Wet, and J S O'Brien

A lambda gt11 human hepatoma cDNA expression library was screened with antibodies to human alpha-L-fucosidase, a lysosomal enzyme whose activity is deficient in the human autosomal recessive disease fucosidosis. Three positive clones were identified after screening 9 X 10(6) plaques. One of these was sequenced and found to be spurious, probably representing an out-of-frame cDNA that gave rise to amino acid sequences of unknown length that crossreacted with alpha-L-fucosidase. A second clone, lambda AF3, was isolated which, after establishment in Escherichia coli BNN103, gave rise to a fusion protein of Mr 154,000 containing a human fragment of Mr 40,000 that represented 80% of the mature processed enzyme (Mr 50,000). Southern blot analysis of mouse and human chromosomal DNA confirmed the human origin of insert AF3. The nucleotide sequence of AF3 was determined and colinearity was established between 270 nucleotides and 90 amino acids in alpha-L-fucosidase. AF3 was found to contain 1058 base pairs and to code for 347 amino acids of alpha-L-fucosidase. Four potential glycosylation sites were identified. The frequency of lambda AF3 in the hepatoma library was 0.0018%.

UI	MeSH Term	Description	Entries
D008113	Liver Neoplasms	Tumors or cancer of the LIVER.	Cancer of Liver,Hepatic Cancer,Liver Cancer,Cancer of the Liver,Cancer, Hepatocellular,Hepatic Neoplasms,Hepatocellular Cancer,Neoplasms, Hepatic,Neoplasms, Liver,Cancer, Hepatic,Cancer, Liver,Cancers, Hepatic,Cancers, Hepatocellular,Cancers, Liver,Hepatic Cancers,Hepatic Neoplasm,Hepatocellular Cancers,Liver Cancers,Liver Neoplasm,Neoplasm, Hepatic,Neoplasm, Liver
D003001	Cloning, Molecular	The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.	Molecular Cloning
D004247	DNA	A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).	DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA
D005644	alpha-L-Fucosidase	An enzyme that catalyzes the hydrolysis of an alpha L-fucoside to yield an alcohol and L-fucose. Deficiency of this enzyme can cause FUCOSIDOSIS. EC 3.2.1.51.	Fucosidase,alpha-Fucosidase,alpha Fucosidase,alpha L Fucosidase
D005645	Fucosidosis	An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)	Fucosidase Deficiency Disease,Alpha-Fucosidase Deficiency,Deficiency Disease, alpha-Fucosidase,Deficiency Disease, alpha-L-Fucosidase,Fucosidase Deficiency,Fucosidosis Type 1,Fucosidosis Type I,Fucosidosis Type II,Fucosidosis, Infantile,Fucosidosis, Juvenile,alpha-Fucosidase Deficiency Disease,alpha-L-Fucosidase Deficiency,alpha-L-Fucosidase Deficiency Disease,Deficiency Disease, Fucosidase,Deficiency Disease, alpha Fucosidase,Deficiency Disease, alpha L Fucosidase,Deficiency Diseases, Fucosidase,Deficiency Diseases, alpha-Fucosidase,Deficiency Diseases, alpha-L-Fucosidase,Disease, Fucosidase Deficiency,Disease, alpha-Fucosidase Deficiency,Disease, alpha-L-Fucosidase Deficiency,Diseases, Fucosidase Deficiency,Diseases, alpha-Fucosidase Deficiency,Diseases, alpha-L-Fucosidase Deficiency,Fucosidase Deficiency Diseases,Fucosidosis Type 1s,Infantile Fucosidosis,Juvenile Fucosidosis,Type 1, Fucosidosis,Type 1s, Fucosidosis,alpha Fucosidase Deficiency Disease,alpha L Fucosidase Deficiency Disease,alpha-Fucosidase Deficiency Diseases,alpha-L-Fucosidase Deficiency Diseases
D006528	Carcinoma, Hepatocellular	A primary malignant neoplasm of epithelial liver cells. It ranges from a well-differentiated tumor with EPITHELIAL CELLS indistinguishable from normal HEPATOCYTES to a poorly differentiated neoplasm. The cells may be uniform or markedly pleomorphic, or form GIANT CELLS. Several classification schemes have been suggested.	Hepatocellular Carcinoma,Hepatoma,Liver Cancer, Adult,Liver Cell Carcinoma,Liver Cell Carcinoma, Adult,Adult Liver Cancer,Adult Liver Cancers,Cancer, Adult Liver,Cancers, Adult Liver,Carcinoma, Liver Cell,Carcinomas, Hepatocellular,Carcinomas, Liver Cell,Cell Carcinoma, Liver,Cell Carcinomas, Liver,Hepatocellular Carcinomas,Hepatomas,Liver Cancers, Adult,Liver Cell Carcinomas
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000595	Amino Acid Sequence	The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.	Protein Structure, Primary,Amino Acid Sequences,Sequence, Amino Acid,Sequences, Amino Acid,Primary Protein Structure,Primary Protein Structures,Protein Structures, Primary,Structure, Primary Protein,Structures, Primary Protein
D000911	Antibodies, Monoclonal	Antibodies produced by a single clone of cells.	Monoclonal Antibodies,Monoclonal Antibody,Antibody, Monoclonal
D001483	Base Sequence	The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.	DNA Sequence,Nucleotide Sequence,RNA Sequence,DNA Sequences,Base Sequences,Nucleotide Sequences,RNA Sequences,Sequence, Base,Sequence, DNA,Sequence, Nucleotide,Sequence, RNA,Sequences, Base,Sequences, DNA,Sequences, Nucleotide,Sequences, RNA