编码TBC1D1的基因与tre2 /USP6致癌基因、BUB2和cdc16同源,定位于小鼠的5号染色体和人类的4号染色体。

R A White, L M Pasztor, P M Richardson, L I Zon
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引用次数: 12

摘要

TBC1D1是一个与tre2 /UPS6、BUB2和cdc16同源的相关蛋白家族的创始成员,含有180-220个氨基酸的tbc盒基序。该蛋白家族被认为在分化和调节细胞生长中起作用。我们开始绘制小鼠和人类的TBC1D1基因图谱。对两个独立小鼠RI(重组自交系)中TBC1D1 RFLP的分离分析表明,小鼠TBC1D1与5号染色体上的Pgm1紧密相连。通过对鼠类-人体细胞系基因组dna的Southern blot分析,将人TBC1D1基因定位到人染色体4p15.1- >4q21上。在含有人类4号染色体或染色体4p15.1- >4q21区域的体细胞系中观察到人类特异性的基因组片段。TBC1D1映射到含有小鼠Pgm1同源物的区域,在小鼠和人类之间的这个长区域中添加了另一个基因座。
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The gene encoding TBC1D1 with homology to the tre-2/USP6 oncogene, BUB2, and cdc16 maps to mouse chromosome 5 and human chromosome 4.

TBC1D1 is the founding member of a family of related proteins with homology to tre-2/UPS6, BUB2, and cdc16 and containing the tbc box motif of 180-220 amino acids. This protein family is thought to have a role in differentiation and in regulating cell growth. We set out to map the TBC1D1 gene in mouse and human. Segregation analysis of a TBC1D1 RFLP in two independent mouse RI (recombinant inbred) lines reveals that mouse Tbc1d1 is closely linked to Pgm1 on chromosome 5. The human TBC1D1 gene was assigned to human chromosome 4p15.1-->4q21 using Southern blot analyses of genomic DNAs from rodent-human somatic cell lines. A human-specific genomic fragment was observed in the somatic cell lines containing human chromosome 4 or the 4p15.1-->4q21 region of the chromosome. TBC1D1 maps to the region containing the ortholog of mouse Pgm1 adding another locus to this long region of conserved synteny between mouse and man.

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