Alternative titles; symbols
HGNC Approved Gene Symbol: BCL2L2
Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:23,306,833-23,311,751 (from NCBI)
Using degenerate PCR, Gibson et al. (1996) cloned human BCLW, a novel homolog of BCL2 (151430), a prototypic mammalian regulator of cell death. Several other homologs of BCL2 are known, including BCLX (600039), BAX (600040), and BAK (600516). The BCLW gene encodes a 193-amino acid polypeptide. Gibson et al. (1996) also isolated the mouse Bclw gene; its amino acid sequence is 99% identical to that of the human gene. Mouse Bclw is expressed as a 3.7-kb mRNA in a variety of tissues, with highest expression in brain, colon, and salivary gland. In mouse hematopoietic cell lines, Bclw is expressed in myeloid cells and to a lesser extent in lymphoid cells. Like Bcl2, expressed Bclw promoted cell survival under a variety of cytotoxic conditions.
Gibson et al. (1996) used fluorescence in situ hybridization to map the BCLW gene to human chromosome 14q11.2-q12.
To identify genes required for mammalian spermatogenesis, Ross et al. (1998) screened lines of mutant mice created using a retroviral gene-trap system for male infertility. The authors found that the gene mutated in ROSA41 mice is Bclw, a death-protecting member of the Bcl2 family. Homozygous ROSA41 male mice exhibited sterility associated with progressive testicular degeneration. Germ cell defects were first observed at 19 days postnatal. Spermatogenesis was blocked during late spermiogenesis in young adults. Gradual depletion of all stages of germ cells resulted in a Sertoli-cell-only phenotype by approximately 6 months of age. Subsequently, almost all Sertoli cells were lost from the seminiferous tubules, and the Leydig cell population was reduced. The mutant allele of Bclw in ROSA41 did not produce a Bclw polypeptide. Expression of Bclw in the testis appeared to be restricted to elongating spermatids and Sertoli cells.
Gibson, L., Holmgreen, S. P., Huang, D. C. S., Bernard, O., Copeland, N. G., Jenkins, N. A., Sutherland, G. R., Baker, E., Adams, J. M., Cory, S. bcl-w, a novel member of the bcl-2 family, promotes cell survival. Oncogene 13: 665-675, 1996. [PubMed: 8761287]
Ross, A. J., Waymire, K. G., Moss, J. E., Parlow, A. F., Skinner, M. K., Russell, L. D., MacGregor, G. R. Testicular degeneration in Bclw-deficient mice. Nature Genet. 18: 251-256, 1998. [PubMed: 9500547] [Full Text: https://doi.org/10.1038/ng0398-251]