BAK,a BCL2 homolog, promotes
cell death and counteracts the protection from apoptosis provided by BCL2.
General function
Cell death/survival, Apoptosis
Comment
Cellular localization
Cytoplasmic, Mitochondrial
Comment
Ovarian function
Oogenesis
Comment
Expression regulated by
Comment
Ovarian localization
Oocyte
Comment
Stanton JL, et al 2002 reported the gene expression profiling of human GV oocytes based on an analysis of a
profile obtained by serial analysis of gene expression (SAGE).
A gene expression profile of the human GV oocyte has recently been established
by Serial Analysis of Gene Expression (SAGE). A significant number of the
genes identified in this profile had not previously been associated with
mammalian oocytes. We sought to confirm gene matches by RT-PCR amplification
of candidate transcripts using mouse eggs. Attention focused on receptors,
proteins involved in apoptosis, and cytoskeletal proteins. Two receptors found
in the human catalogue, CCR6 and PAR3, were not found in mouse eggs, whereas
myosin light chain, LLGL, beta -actin, 5HT receptor, bad, bak, DFF45, and
Caspase homologue (cash) were. Individual SAGEtags can match more than one
gene and, in some cases, more than ten. Examination of transcript sequences
that generate multiple gene assignments identified a common denominator of
short interspersed elements or Alu sequences. For reasons which are, as yet,
unclear, the human GV oocyte SAGE catalogue contains relatively high
abundances of SAGEtags in Alu sequences. This may reflect normal expression of
Alu-containing. genes in eggs or upregulated expression of Alu elements
following stress. The degeneracy of gene matches in SAGE generated by Alu
sequences makes independent confirmation of candidate genes essential.
Follicle stages
Comment
Phenotypes
Mutations
1 mutations
Species: mouse
Mutation name: None
type: null mutation fertility: fertile Comment: Proapoptotic Bcl2 family members have been proposed to play a central role in regulating apoptosis, yet mice lacking Bax display limited
phenotypic abnormalities. Lindsten et al. (2000) found that Bak -/- mice were developmentally normal and reproductively fit and failed to develop
any age-related disorders. However, when Bak-deficient mice were mated to Bax-deficient mice to create mice lacking both genes, the majority of
Bax-/- Bak-/- animals died perinatally, with fewer than 10% surviving into adulthood. Bax-/- Bak-/- mice displayed multiple developmental
defects, including persistence of interdigital webs, an imperforate vaginal canal, and accumulation of excess cells within both the central nervous
and hematopoietic systems. Thus, the authors concluded that Bax and Bak have overlapping roles in the regulation of apoptosis during mammalian
development and tissue homeostasis.