Mapping of the human BAX gene to chromosome 19q13.3-q13.4 and isolation of a novel alternatively spliced transcript, BAX{delta}
- Harvard Medical School, Boston, MA (United States)
- Hospital d`Enfants, Marseille (France)
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. 10 refs., 1 fig., 1 tab.
- OSTI ID:
- 209943
- Journal Information:
- Genomics, Vol. 26, Issue 3; Other Information: PBD: 10 Apr 1995
- Country of Publication:
- United States
- Language:
- English
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