DOI: 10.1111/j.1471-4159.1988.tb01836.x. A Point Mutation in the Coding Sequence of the β‐Hexosaminidase α Gene Results in Defective Processing of the Enzyme Protein in an Unusual GM2‐Gangliosidosis Variant

A Point Mutation in the Coding Sequence of the β‐Hexosaminidase α Gene Results in Defective Processing of the Enzyme Protein in an Unusual GM2‐Gangliosidosis Variant

10.1111/j.1471-4159.1988.tb01836.x

Crossref journal-article

Wiley

Journal of Neurochemistry (311)

Abstract

Abstract: cDNA clones were isolated from cultured fibro‐blasts of a patient previously reported as having GM2‐gangliosidosis due to defective processing of the precursor β‐hexosaminidase α chain. Sequence analysis of a clone containing the entire protein coding sequence showed a single nucleotide substitution, from G to A, at nucleotide residue no. 1444, which resulted in a change in amino acid residue no. 482, from the normal glutamic acid to lysine. This transversion was confirmed in two other cDNAs from the same unamplified library. The results collectively indicate that the change from the strongly negative to strongly positive charge at amino acid residue no. 482 is responsible for the defective processing of the enzyme in this patient.

Bibliography

Nakano, T., Muscillo, M., Ohno, K., Hoffman, A. J., & Suzuki, K. (1988). A Point Mutation in the Coding Sequence of the Î²âHexosaminidase Î± Gene Results in Defective Processing of the Enzyme Protein in an Unusual GM2âGangliosidosis Variant. Journal of Neurochemistry, 51(3), 984â987. Portico.

Authors 5

Takeshi Nakano (first)
Michele Muscillo (additional)
Kousaku Ohno (additional)
Andrew J. Hoffman (additional)
Kunihiko Suzuki (additional)

References 17 Referenced 35

10.1073/pnas.69.6.1408
10.1073/pnas.80.13.3963
{'key': 'e_1_2_2_4_1', 'first-page': '448', 'article-title': 'MSEQ: a microcomputer‐based approach to the analysis, display, and prediction of protein structure', 'volume': '4', 'author': 'Black S. D.', 'year': '1986', 'journal-title': 'BioTechniques'} / BioTechniques / MSEQ: a microcomputer‐based approach to the analysis, display, and prediction of protein structure by Black S. D. (1986)
10.1146/annurev.bi.47.070178.001343
{'key': 'e_1_2_2_6_1', 'volume-title': 'The UCSD Molecular Modeling System Reference Manual', 'author': 'Dempsey S.', 'year': '1986'} / The UCSD Molecular Modeling System Reference Manual by Dempsey S. (1986)
10.1073/pnas.77.10.5794
10.1016/0378-1119(83)90230-5
10.1016/0022-2836(82)90515-0
10.1073/pnas.82.23.7830
10.1111/j.1471-4159.1988.tb13266.x
10.1073/pnas.79.20.6360
10.1016/S0021-9258(17)43301-1 / J. Biol. Chem / Association of α‐and β‐subunits during the biosynthesis of β‐hexosaminidase in cultured human fibroblasts by Proia R. L. (1984)
10.1016/0022-2836(77)90052-3
{'key': 'e_1_2_2_15_1', 'volume-title': 'The Metabolic Basis of Inherited Disease', 'author': 'Sandhoff K.', 'year': '1988'} / The Metabolic Basis of Inherited Disease by Sandhoff K. (1988)
10.1073/pnas.74.12.5463
10.1002/jcc.540020311
{'key': 'e_1_2_2_18_1', 'first-page': '537', 'article-title': 'A shortened β‐hexosaminidase α chain in an Italian patient with infantile Tay‐Sachs disease', 'volume': '40', 'author': 'Zokaeem G.', 'year': '1987', 'journal-title': 'Am. J. Hum. Genet'} / Am. J. Hum. Genet / A shortened β‐hexosaminidase α chain in an Italian patient with infantile Tay‐Sachs disease by Zokaeem G. (1987)

Dates

Type	When
Created	18 years, 10 months ago (Oct. 5, 2006, 6:15 p.m.)
Deposited	1 year, 10 months ago (Oct. 22, 2023, 12:06 a.m.)
Indexed	1 year, 10 months ago (Oct. 25, 2023, 1:52 a.m.)
Issued	37 years ago (Sept. 1, 1988)
Published	37 years ago (Sept. 1, 1988)
Published Online	18 years, 11 months ago (Oct. 5, 2006)
Published Print	37 years ago (Sept. 1, 1988)

Funders 0

None

BibTeX

@article{Nakano_1988, title={A Point Mutation in the Coding Sequence of the β‐Hexosaminidase α Gene Results in Defective Processing of the Enzyme Protein in an Unusual GM2‐Gangliosidosis Variant}, volume={51}, ISSN={1471-4159}, url={http://dx.doi.org/10.1111/j.1471-4159.1988.tb01836.x}, DOI={10.1111/j.1471-4159.1988.tb01836.x}, number={3}, journal={Journal of Neurochemistry}, publisher={Wiley}, author={Nakano, Takeshi and Muscillo, Michele and Ohno, Kousaku and Hoffman, Andrew J. and Suzuki, Kunihiko}, year={1988}, month=sep, pages={984–987} }

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