Hara T, Yamauchi M, Takahashi E, Hoshino M, Aoki K, Ayusawa D, Kawakita M
Department of Pure and Applied Sciences, College of Arts and Sciences, University of Tokyo, Japan.
Somat Cell Mol Genet. 1993 Nov;19(6):571-5. doi: 10.1007/BF01233383.
We have cloned a segment of the human gene encoding UDP-galactose translocator by genetic complementation of its defective mutant in mouse FM3A cells. Chromosome mapping using fluorescent in situ hybridization revealed that the cloned gene hybridized to the Xp11.23-11.23 region of the X chromosome. This region is shared by the locus of Wiskott-Aldrich syndrome, an X-linked recessive immunodeficiency disorder, characterized by defective sugar chains on cell surface components. Genetic and phenotypic similarities suggest a possible link between UDP-galactose translocator and the Wiskott-Aldrich syndrome (WAS).
我们通过对小鼠FM3A细胞中其缺陷突变体进行遗传互补，克隆了一段编码UDP-半乳糖转运体的人类基因片段。利用荧光原位杂交进行染色体定位分析表明，克隆的基因与X染色体的Xp11.23 - 11.23区域杂交。Wiskott-Aldrich综合征（一种X连锁隐性免疫缺陷疾病，其特征为细胞表面成分上的糖链存在缺陷）的基因座也位于该区域。遗传和表型上的相似性表明UDP-半乳糖转运体与Wiskott-Aldrich综合征（WAS）之间可能存在联系。
