ASSIGNMENT OF LIPA, ASSOCIATED WITH HUMAN ACID LIPASE DEFICIENCY, TO HUMAN CHROMOSOME-10 AND COMPARATIVE ASSIGNMENT TO MOUSE CHROMOSOME-19
ASSIGNMENT OF LIPA, ASSOCIATED WITH HUMAN ACID LIPASE DEFICIENCY, TO HUMAN CHROMOSOME-10 AND COMPARATIVE ASSIGNMENT TO MOUSE CHROMOSOME-19
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DOI：
10.1007/bf01538859
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发表时间：
1981-01-01
期刊：
影响因子：
--
通讯作者：
SHOWS, TB
中科院分区：
文献类型：
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作者：
KOCH, G;LALLEY, PA;SHOWS, TB
本文对人-中国仓鼠和小鼠-中国仓鼠体细胞杂种的溶酶体酸性脂肪酶（LIP）进行了遗传学研究。人成纤维细胞提取物的醋酸纤维素电泳表明，LIP活性由3种同工酶组成。在Wolman病（WD）、胆固醇酯沉积病（CESD）和I细胞病（ICD）中观察到LIP活性缺乏;这种缺乏仅与1种LIP同工酶LIPA相关。人LIPA和人10号染色体之间的一致分离被证明，其酶标记谷氨酸草酰乙酸转氨酶-1（GOT1）在细胞杂交克隆中。与WD和CESD相关的不同突变先前被证明是在分配给人类染色体10的结构基因中，并且参与LIPA加工的不同基因在ICD中被改变。几种类型的基因产物显然参与LIPA的最终表达。在小鼠-中国仓鼠杂交克隆中，小鼠Lip-1（与人LIPA同源）被分配到19号染色体。以前，小鼠Got-1被分配到19号染色体。LIPA-GOT 1连接基团在80 × 104期间保持完整。106年的进化将人类和老鼠分开。
The genetics of lysosomal acid lipase (LIP) was investigated in human-Chinese hamster and mouse-Chinese hamster somatic cell hybrids. Cellulose acetate electrophoresis of human fibroblast extracts demonstrated that LIP activity consists of 3 isozymes. A deficiency of LIP activity was observed in Wolman''s disease (WD), cholesterol ester storage disease (CESD) and I-cell disease (ICD); this deficiency was associated with only 1 LIP isozyme, LIPA. Concordant segregation between human LIPA and human chromosome 10 was demonstrated and its enzyme marker glutamate oxaloacetate transaminase-1 (GOT1) in cell hybrid clones. The different mutations associated with WD and CESD were previously shown to be in the structural gene assigned to human chromosome 10 and a different gene, involved in the processing of LIPA, is altered in ICD. Several types of gene products apparently are involved in the final expression of LIPA. In mouse-Chinese hamster hybrid clones, mouse Lip-1 (homologous to human LIPA) was assigned to chromosome 19. Previously, mouse Got-1 was assigned to chromosome 19. The LIPA-GOT1 linkage group has remained intact during the 80 .times. 106 yr of evolution that separates humans and mice.