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小鼠β-甘露糖苷酶:cDNA克隆、表达及染色体定位

Mouse beta-mannosidase: cDNA cloning, expression, and chromosomal localization.

作者信息

Beccari T, Bibi L, Stinchi S, Stirling J L, Orlacchio A

机构信息

Dipartimento di Scienze Biochimiche e Biotecnologie Molecolari, Università degli Studi di Perugia, Italy.

出版信息

Biosci Rep. 2001 Jun;21(3):315-23. doi: 10.1023/a:1013286216030.

Abstract

Beta-mannosidase is an exoglycosidase involved in the degradation of N-linked oligosaccharides moieties of glycoproteins. Lack of beta-mannosidase activity leads to the lysosomal disorder beta-mannosidosis (MIM 248510). We have isolated and sequenced the gene encoding the mouse beta-mannosidase. Comparison of the deduced amino acid sequence of mouse, human, bovine, and goat beta-mannosidase showed 64%, identity, reflecting a high degree of evolutionary conservation. Analysis of a multiple tissue northern blotting revealed a major transcript of about 3.7 kb in all tissues examined. The northern analysis also demonstrates that there is differential tissue mRNA expression. The mouse beta-mannosidase gene (Bmn) was mapped to the distal end of Chromosome (Chr) 3, in a region that is homologous with a segment of human Chr 4 containing the orthologous human gene.

摘要

β-甘露糖苷酶是一种外切糖苷酶,参与糖蛋白N-连接寡糖部分的降解。缺乏β-甘露糖苷酶活性会导致溶酶体疾病β-甘露糖苷贮积症(MIM 248510)。我们已经分离并测序了编码小鼠β-甘露糖苷酶的基因。对小鼠、人类、牛和山羊β-甘露糖苷酶推导的氨基酸序列进行比较,结果显示同一性为64%,这反映出高度的进化保守性。对多组织Northern印迹分析显示,在所有检测的组织中都有一个约3.7 kb的主要转录本。Northern分析还表明存在组织mRNA表达差异。小鼠β-甘露糖苷酶基因(Bmn)被定位到3号染色体(Chr)的远端,该区域与包含直系同源人类基因的人类4号染色体的一段区域同源。

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