Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase

Area of Science:

• Molecular Biology
• Genetics
• Biochemistry

Background:

• Human glucocerebrosidase is an enzyme crucial for cellular function.
• Defects in glucocerebrosidase are associated with genetic disorders.

Purpose of the Study:

• To isolate and determine the complete nucleotide sequence of human glucocerebrosidase cDNA.
• To identify key features of the encoded protein, including glycosylation sites and leader sequence.

Main Methods:

• Isolation of complementary DNA (cDNA) clones from a human hepatoma library using lambda gt11.
• Determination of the complete nucleotide sequence of the cDNA insert.
• Analysis of the deduced amino acid sequence for functional motifs.

Main Results:

• The complete nucleotide sequence of the 1805-base pair human glucocerebrosidase cDNA was determined.
• The cDNA encodes a 516-amino acid protein with a calculated molecular weight of 57,000.
• Potential N-linked glycosylation sites and leader polypeptide features were identified.

Conclusions:

• The determined cDNA sequence provides the complete genetic information for human glucocerebrosidase.
• The identified features of the protein sequence are consistent with its function and cellular processing.
• This foundational data aids in understanding glucocerebrosidase-related diseases.