White R A, Pasztor L M, Richardson P M, Zon L I
Section of Medical Genetics and Molecular Medicine, Children's Mercy Hospital, UMKC School of Medicine, Kansas City, MO. USA.
Cytogenet Cell Genet. 2000;89(3-4):272-5. doi: 10.1159/000015632.
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.
TBC1D1是一个相关蛋白家族的创始成员，与tre-2/UPS6、BUB2和cdc16具有同源性，并含有180 - 220个氨基酸的tbc盒基序。该蛋白家族被认为在细胞分化和调节细胞生长中发挥作用。我们着手在小鼠和人类中定位TBC1D1基因。对两个独立的小鼠重组近交系中TBC1D1限制性片段长度多态性（RFLP）进行分离分析，结果显示小鼠Tbc1d1与5号染色体上的Pgm1紧密连锁。利用来自啮齿动物 - 人类体细胞系的基因组DNA进行Southern印迹分析，将人类TBC1D1基因定位到人类染色体4p15.1→4q21。在含有人类染色体4或该染色体4p15.1→4q21区域的体细胞系中观察到一个人类特异性基因组片段。TBC1D1定位于包含小鼠Pgm1直系同源基因的区域，这为小鼠和人类之间这个保守同线性的长区域增加了另一个基因座。
