Alternative titles; symbols
HGNC Approved Gene Symbol: RBM6
Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38) : 3:49,940,150-50,077,249 (from NCBI)
Gure et al. (1998) identified RBM6, which they called NY-LU-12, by immunoscreening a recombinant lung cancer cDNA expression library with autologous patient serum. They cloned the full-length cDNA from normal testis mRNA through a combination of 5-prime RACE and direct PCR. In addition to the dominant transcript, they identified 3 minor forms that contain additional exon(s). The deduced 1,123-amino acid major protein contains 20 inexact 6-amino acid repeats close to the N terminus; 2 RNA-binding domains; 2 zinc finger motifs; a bipartite nuclear localization signal; and a 4-residue nuclear localization pattern. They noted that all of the predicted functional domains in RBM6 are also present in RBM5 (606884), with which it shares 30% identity. Northern blot analysis detected several RBM6 transcripts, ranging from approximately 3 to 4.4 kb, in all tissues examined. Highest expression was in liver, with intermediate expression in placenta, lung, skeletal muscle, and kidney. Southern blot analysis showed no evidence of homozygous deletion of RBM6 in tumor cell lines, the gene being partially deleted in only 1 of 9 lung cancer cell lines.
Drabkin et al. (1999) isolated a cDNA encoding RBM6, which they called DEF3, by positional cloning from a small cell lung carcinoma homozygous deletion region on chromosome 3p21.3. The human and mouse RBM6 proteins share 89% amino acid identity. Northern blot analysis indicated highest expression in heart, intermediate levels in brain, placenta, liver, skeletal muscle, and pancreas, and low expression in lung and kidney. In hematopoietic tissues, highest expression was in lymph node and thymus, with lower expression in bone marrow. Two bands were observed in peripheral blood leukocytes and fetal liver. Northern blot analysis showed constitutive expression of mouse Rbm6 during embryogenesis, as well as expression in all adult mouse tissues examined.
Timmer et al. (1999) identified a YAC clone corresponding to chromosome 3p21.3 that is deleted in the small cell lung cancer cell line GLC20. They isolated and cloned RBM6 by direct hybridization of this YAC clone to a lung cDNA library. Northern blot analysis identified RBM6 transcripts of 4.7, 3.9, and 2.1 kb in all tissues tested. Although RBM6 maps to the critical region homozygously deleted in a small cell lung carcinoma cell line, the authors found that the 5-prime end crosses the telomeric breakpoint of the deletion. Northern and Southern analyses of a number of lung cancer cell lines revealed no patterns of aberrant RBM6 expression.
Drabkin et al. (1999) found that recombinant proteins containing the RNA recognition motifs of RBM5 or RBM6 specifically bind poly(G) RNA homopolymers in vitro.
Timmer et al. (1999) determined that the RBM6 gene contains 20 exons.
Timmer et al. (1999) identified the RBM5 gene within a YAC clone corresponding to chromosome 3p21.3. By FISH, Heng et al. (2000) mapped the mouse gene to chromosome 9F1-F2.
Drabkin, H. A., West, J. D., Hotfilder, M., Heng, Y. M., Erickson, P., Calvo, R., Dalmau, J., Gemmill, R. M., Sablitzky, F. DEF-3(g16/NY-LU-12), an RNA binding protein from the 3p21.3 homozygous deletion region in SCLC. Oncogene 18: 2589-2597, 1999. [PubMed: 10353602] [Full Text: https://doi.org/10.1038/sj.onc.1202601]
Gure, A. O., Altorki, N. K., Stockert, E., Scanlan, M. J., Old, L. J., Chen, Y.-T. Human lung cancer antigens recognized by autologous antibodies: definition of a novel cDNA derived from the tumor suppressor gene locus on chromosome 3p21.3. Cancer Res. 58: 1034-1041, 1998. [PubMed: 9500467]
Heng, Y. M., Fox, M., Sablitzky, F. Assignment of the murine def-3 gene (Rbm6) to chromosome 9F1-F2 and its pseudogenes Rbm6-ps1 and Rbm6-ps2 to chromosome 1 by in situ hybridisation. Cytogenet. Cell. Genet. 89: 238-239, 2000. [PubMed: 10965133] [Full Text: https://doi.org/10.1159/000015623]
Timmer, T., Terpstra, P., van den Berg, A., Veldhuis, P. M. J. F., Elst, A. T., Voutsinas, G., Hulsbeek, M. M. F., Draaijers, T. G., Looman, M. W. G., Kok, K., Naylor, S. L., Buys, C. H. C. M. A comparison of genomic structures and expression patterns of two closely related flanking genes in a critical lung cancer region at 3p21.3. Europ. J. Hum. Genet. 7: 478-486, 1999. [PubMed: 10352938] [Full Text: https://doi.org/10.1038/sj.ejhg.5200334]