PMID:9531611

Citation	Meijerink, JP, Mensink, EJ, Wang, K, Sedlak, TW, Slöetjes, AW, de Witte, T, Waksman, G and Korsmeyer, SJ (1998) Hematopoietic malignancies demonstrate loss-of-function mutations of BAX. Blood 91:2991-7
Abstract	The BCL-2 gene family regulates the susceptibility to apoptotic cell death in many cell types during embryonic development and normal tissue homeostasis. Deregulated expression of anti-apoptotic BCL-2 can be a primary aberration that promotes malignancy and also confers resistance to chemotherapeutic agents. Recently, studies of Bax-deficient mice have indicated that the pro-apoptotic BAX molecule can function as a tumor suppressor. Consequently, we examined human hematopoietic malignancies and found that approximately 21% of lines possessed mutations in BAX, perhaps most commonly in the acute lymphoblastic leukemia subset. Approximately half were nucleotide insertions or deletions within a deoxyguanosine (G8) tract, resulting in a proximal frame shift and loss of immunodetectable BAX protein. Other BAX mutants bore single amino acid substitutions within BH1 or BH3 domains, demonstrated altered patterns of protein dimerization, and had lost death-promoting activity. Thus, mutations in the pro-apoptotic molecule BAX that confer resistance to apoptosis are also found in malignancies.
Links	PubMed
Keywords	Animals; Apoptosis/genetics; Hematologic Neoplasms/genetics; Hematologic Neoplasms/pathology; Humans; Mice; Mutation; Protein Conformation; Proto-Oncogene Proteins/chemistry; Proto-Oncogene Proteins/genetics; Proto-Oncogene Proteins c-bcl-2/genetics; Tumor Cells, Cultured; bcl-2-Associated X Protein
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Annotations

Gene product	Qualifier	GO Term	Evidence Code	with/from	Aspect	Extension	Notes	Status
HUMAN:BAX		GO:0006915: apoptosis	ECO:0000315:		P		Figures 2 and 3.	complete CACAO 3542
HUMAN:BAX	involved_in	GO:0006915: apoptotic process	ECO:0000315: mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete

References

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