Alternative titles; symbols
HGNC Approved Gene Symbol: BCAS1
Cytogenetic location: 20q13.2 Genomic coordinates (GRCh38): 20:53,943,541-54,070,594 (from NCBI)
Collins et al. (1998) studied the region of amplification on chromosome 20q13 that had been demonstrated by comparative genomic hybridization studies to contain copy-number gains in breast cancer and in several other forms of cancer. Analysis of a 1-Mb region of recurrent amplification produced evidence for 5 genes, of which 2, ZNF217 (602967) and NABC1, emerged as strong candidate oncogenes. NABC1 was predicted to encode a 585-amino acid protein and was overexpressed in most, but not all, breast cancer cell lines in which it was amplified.
Lauriat et al. (2008) stated that exon 7 of mouse Bcas1 is included only in a brain-specific transcript. Using probes that targeted the equivalent exon in human BCAS1 for qualitative RT-PCR, they detected expression in human prefrontal cortex. Expression of the transcript containing the equivalent of mouse exon 7, as well as the more broadly expressed transcript lacking it, increased with age between fetal and adult (up to 46 years of age) prefrontal cortex samples. In hippocampus, expression of both BCAS1 variants was highly variable between individuals, and there was no significant difference in expression across age groups.
Quaking (QKI; 609590) proteins bind RNA and regulate RNA splicing, intracellular localization, stability, and translation. Using microarray analysis and RT-PCR, Lauriat et al. (2008) found that expression of the exon 7-containing brain-specific Bcas1 variant was decreased 4-fold in brains of qk(e5) mice, which show decreased expression of all 3 Qki isoforms. The Bcas1 transcript lacking exon 7 was detected by RT-PCR in qk(e5) brain, but not in wildtype mouse brain. Lauriat et al. (2008) proposed that QKI may regulate brain-specific BCAS1 splicing.
By genomic sequence analysis, Collins et al. (1998) mapped the BCAS1 gene to chromosome 20q13.2.
Collins, C., Rommens, J. M., Kowbel, D., Godfrey, T., Tanner, M., Hwang, S., Polikoff, D., Nonet, G., Cochran, J., Myambo, K., Jay, K. E., Froula, J., and 16 others. Positional cloning of ZNF217 and NABC1: genes amplified at 20q13.2 and overexpressed in breast carcinoma. Proc. Nat. Acad. Sci. 95: 8703-8708, 1998. [PubMed: 9671742] [Full Text: https://doi.org/10.1073/pnas.95.15.8703]
Lauriat, T. L., Shiue, L., Haroutunian, V., Verbitsky, M., Ares, M., Jr., Ospina, L., McInnes, L. A. Developmental expression profile of quaking, a candidate gene for schizophrenia, and its target genes in human prefrontal cortex and hippocampus shows regional specificity. J. Neurosci. Res. 86: 785-796, 2008. [PubMed: 17918747] [Full Text: https://doi.org/10.1002/jnr.21534]