Alternative titles; symbols
HGNC Approved Gene Symbol: NBEAP1
Cytogenetic location: 15q11.2 Genomic coordinates (GRCh38): 15:20,669,468-20,756,151 (from NCBI)
Dyomin et al. (1997) reported the cloning of the t(14;15)(q32;q11-13) breakpoint from a patient with diffuse large cell lymphoma (DLCL) and the isolation of a new gene, which they designated BCL8, at 15q11-q13 that is potentially involved the pathogenesis of DLCL. A probe derived from the BCL8 locus detected a transcript in human testis and prostate, whereas no expression was found in spleen, thymus, or blood leukocytes. Analysis of the BCL8 cDNA clones isolated from human testis cDNA library showed that the BCL8 gene generates a major transcript of 2.6 kb and a less prominent 4.5-kb species due to differential polyadenylation.
By RT-PCR analysis of RNA extracted from frozen DLCL samples and lymphoma cell lines, Dyomin et al. (1997) detected BCL8 expression in all patients carrying 15q11-q13 abnormalities and in a fraction of randomly selected DLCL patients. These results suggested that the BCL8 gene is not normally expressed in lymphoid tissues, but that its expression can be activated by chromosomal translocation or by other mechanisms in DLCL. Ectopic expression of BCL8 in a significant proportion of DLCL suggests an important role for this gene in the molecular pathogenesis of B-cell lymphoma.
Dyomin et al. (1997) identified the BCL8 gene on chromosome 15q11-q13.
Dyomin et al. (1997) stated that diffuse large cell lymphomas make up approximately 50% of non-Hodgkin lymphomas and show significant variability in terms of their pathologic manifestation, response to therapy, and prognosis. DLCLs are also heterogeneous with respect to karyotypic abnormalities and underlying molecular lesions. The normal pattern of expression of 3 genes is altered by a specific chromosomal translocation in DLCL, namely, myc (190080), BCL2 (151430), and BCL6 (109565), occurring in approximately 10%, 20%, and 25% of DLCL, respectively, as detected by either cytogenetic or molecular methods. One of the remaining subsets of DLCL cases, found in 3 to 4% of cases, shows a rearrangement involving 15q11-q13. A notable feature of this site is the promiscuity of the rearrangement. In addition to translocations involving the immunoglobulin sites 14q32 and 22q11, it exhibits translocations with multiple other sites such as 9p13, 1p32, 7p13, 12q24, and 15q22. Translocations involving 15q11-q13 have been noted also in nonlymphoid tumors. The 15q11-q13 region is implicated in genomic imprinting and contains putative genes for the imprinting-related disorders, Prader-Willi syndrome (176270) and Angelman syndrome (105830). Another unusual feature of the region is the presence of orphan, presumably nonfunctional, copies of V (147070) and D segments of the IgH gene.
Dyomin, V. G., Rao, P. H., Dalla-Favera, R., Chaganti, R. S. K. BCL8, a novel gene involved in translocations affecting band 15q11-13 in diffuse large-cell lymphoma. Proc. Nat. Acad. Sci. 94: 5728-5732, 1997. [PubMed: 9159141] [Full Text: https://doi.org/10.1073/pnas.94.11.5728]