GENE-MAPPING AND LEADER POLYPEPTIDE SEQUENCE OF HUMAN GLUCOCEREBROSIDASE - IMPLICATIONS FOR GAUCHER DISEASE
GENE-MAPPING AND LEADER POLYPEPTIDE SEQUENCE OF HUMAN GLUCOCEREBROSIDASE - IMPLICATIONS FOR GAUCHER DISEASE
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DOI：
10.1073/pnas.82.20.7101
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发表时间：
1985-01-01
影响因子：
11.1
通讯作者：
BARRANGER, JA
中科院分区：
文献类型：
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作者：
GINNS, EI;CHOUDARY, PV;BARRANGER, JA
对中国仓鼠-人类体细胞杂交体中的免疫交叉反应物质的分析允许分配葡糖脑苷脂酶（葡糖神经酰胺酶; β-葡糖基神经酰胺酶）的结构基因。D-葡糖基-N-酰基鞘氨醇葡糖水解酶，EC 3.2.1.45）与染色体1带q21-q32连接。放射性标记的人葡糖脑苷脂酶cDNA与高分辨率人染色体的原位杂交表明，编码葡糖脑苷脂酶的单个位点位于1 q21上，邻近1号染色体（1 qh）的一个丰富的结构异型性区域。我们还确定了一个疏水性的前导多肽编码的这个位点，允许一个更完整的描述的酶的生物合成。这些结果表明，在戈谢病的类型特异性蛋白质多态性的结果在这个单一的基因座，其分离可能是连锁可见的染色体异形突变的突变。
Analysis of immunologic cross-reacting material in Chinese hamster-human somatic cell hybrids allowed assignment of the structural gene for glucocerebrosidase (glucosylceramidase; .beta.-D-glucosyl-N-acylsphingosine glucohydrolase, EC 3.2.1.45) to chromosome 1 bands q21-q32. In situ hybridization of a radiolabeled human glucocerebrosidase cDNA to high resolution human chromosomes demonstrated that a single locus encoding glucocerebrosidase is on 1q21, adjacent to a region of chromosome 1 (1qh) abundant in structural heteromorphisms. We also have identified a hydrophobic leader polypeptide encoded by this locus, permitting a more complete description of the biosynthesis of the enzyme. These results suggest that the type-specific protein polymorphisms in Gaucher disease result from mutations at this single locus, whose segregation might be followed by linkage to visible chromosomal heteromorphisms.