Apte S S, Mattei M G, Olsen B R
Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA.
Genomics. 1995 Apr 10;26(3):592-4. doi: 10.1016/0888-7543(95)80180-t.
The BAX gene is a member of the Bcl-2 gene family; it encodes a 21-kDa protein whose association with Bcl-2 is believed to play a critical role in regulating apoptosis. Through analysis of human-hamster somatic cell hybrid DNA and by in situ hybridization to metaphase chromosomes, we have determined that the human BAX gene is located in the q13.3-q13.4 region of human chromosome 19. We have also isolated a BAX cDNA clone in which that part of the mRNA encoded by exon 3 is absent. The skipping of exon 3 and the resultant splicing of exons 2 and 4 maintains the original reading frame and predicts the existence of an interstitially truncated form of the major Bax protein (Bax alpha), termed Bax delta. Unlike two previously described variant forms of Bax alpha (Bax beta and Bax tau), Bax delta retains the functionally critical C-terminal membrane anchor region as well as the Bcl-2 homology 1 and 2 (BH1 and BH2) domains.
BAX基因是Bcl-2基因家族的成员；它编码一种21 kDa的蛋白质，据信该蛋白质与Bcl-2的结合在调节细胞凋亡中起关键作用。通过对人-仓鼠体细胞杂种DNA的分析以及对中期染色体的原位杂交，我们确定人类BAX基因位于人类19号染色体的q13.3-q13.4区域。我们还分离出了一个BAX cDNA克隆，其中外显子3编码的mRNA部分缺失。外显子3的跳跃以及外显子2和4的拼接维持了原始阅读框，并预测存在主要Bax蛋白（Baxα）的中间截短形式，称为Baxδ。与之前描述的两种Baxα变体形式（Baxβ和Baxτ）不同，Baxδ保留了功能关键的C端膜锚定区域以及Bcl-2同源性1和2（BH1和BH2）结构域。
