A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease
| Autor: | Hitoshi Sakuraba, Toshie Tanaka, Kohji Itoh, Yoshikazu Kuroki, Yoko Nadaoka |
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| Rok vydání: | 1995 |
| Předmět: |
Nonsense mutation
DNA Mutational Analysis Molecular Sequence Data Biophysics Fluorescent Antibody Technique G(M2) Ganglioside Biology medicine.disease_cause Biochemistry Protein Structure Secondary Conserved sequence Consanguinity Japan Complementary DNA medicine Missense mutation Humans Cysteine Codon Molecular Biology Gene Conserved Sequence Genetics Mutation Ganglioside Base Sequence Infant Sandhoff Disease Cell Biology Fibroblasts Molecular biology beta-N-Acetylhexosaminidases genomic DNA Tyrosine Female |
| Zdroj: | Biochemical and biophysical research communications. 212(2) |
| ISSN: | 0006-291X |
| Popis: | A novel missense mutation (1565G--A) was identified in the cDNA and genomic DNA coding for the beta-hexosaminidase beta-subunit of a Japanese patient with infantile Sandhoff disease. The patient was homozygous for this mutation, which should result in a cysteine-to-tyrosine substitution at codon 522. Computer-assisted analysis of this amino acid substitution predicted alteration in the secondary structure in the region of a highly conserved sequence. An immunofluorescence study revealed the accumulation of GM2 ganglioside in cultured fibroblasts from the patient with this mutation. |
| Databáze: | OpenAIRE |
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