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β-己糖胺酶α基因编码序列中的一个点突变导致一种罕见的GM2-神经节苷脂贮积症变异型中该酶蛋白的加工缺陷。

A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant.

作者信息

Nakano T, Muscillo M, Ohno K, Hoffman A J, Suzuki K

机构信息

Biological Sciences Research Center, University of North Carolina School of Medicine, Chapel Hill 27599-7250.

出版信息

J Neurochem. 1988 Sep;51(3):984-7. doi: 10.1111/j.1471-4159.1988.tb01836.x.

DOI:10.1111/j.1471-4159.1988.tb01836.x
PMID:2970528
Abstract

cDNA clones were isolated from cultured fibroblasts of a patient previously reported as having GM2-gangliosidosis due to defective processing of the precursor beta-hexosaminidase alpha 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.

摘要

从一名先前报道因前体β-己糖胺酶α链加工缺陷而患有GM2神经节苷脂沉积症患者的培养成纤维细胞中分离出了cDNA克隆。对一个包含完整蛋白质编码序列的克隆进行序列分析，发现在核苷酸残基编号1444处有一个单核苷酸替换，从G变为A，这导致氨基酸残基编号482处发生变化，从正常的谷氨酸变为赖氨酸。在来自同一未扩增文库的另外两个cDNA中证实了这种颠换。这些结果共同表明，氨基酸残基编号482处从强负电荷到强正电荷的变化是该患者酶加工缺陷的原因。

相似文献

1
A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant.β-己糖胺酶α基因编码序列中的一个点突变导致一种罕见的GM2-神经节苷脂贮积症变异型中该酶蛋白的加工缺陷。
J Neurochem. 1988 Sep;51(3):984-7. doi: 10.1111/j.1471-4159.1988.tb01836.x.
2
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引用本文的文献

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Mol Biol Cell. 2016 Dec 1;27(24):3813-3827. doi: 10.1091/mbc.E16-01-0012. Epub 2016 Sep 28.
2
Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease.人β-己糖胺酶B的晶体结构：理解桑德霍夫病和泰-萨克斯病的分子基础
J Mol Biol. 2003 Apr 11;327(5):1093-109. doi: 10.1016/s0022-2836(03)00216-x.
3
beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease.
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Am J Hum Genet. 1993 Aug;53(2):497-508.
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A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant).
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