Premium
Deletion of exon 8 causes glycosylasparaginase deficiency in an African American aspartylglucosaminuria (AGU) patient
Author(s) -
Fisher Krishna J.,
Aronson Nathan N.
Publication year - 1991
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/0014-5793(91)81028-7
Subject(s) - exon , transversion , intron , mutation , rna splicing , frameshift mutation , microbiology and biotechnology , splice , splice site mutation , biology , gene , genetics , chemistry , alternative splicing , rna
We have indentified a T‐to‐ T transversion at the splice donor site of intron 8 in the glycosylasparaginase gene from an African American aspartylglucosaminuria (AGU) patient, This mutation causes abnormal splicing of glycosylasparaginase pre‐mRNA by joining exon 7 to 9 and excluding 134 bp exon 8. The effect of the mutation is compounded by a frame shift that occurs after the deletion site resulting in premature translational termination. The truncated AGU protein was neither catalytically active nor processed into mature α and β subunits. Both this and a previously characterized Finnish AGU mutation appear to affect folding of the single‐chain precursor of glycosylasparaginase and thereby prevent transport of the enzyme to lysosomes.