Alternative titles; symbols
HGNC Approved Gene Symbol: CRYBG1
Cytogenetic location: 6q21 Genomic coordinates (GRCh38) : 6:106,360,717-106,572,017 (from NCBI)
Upon characterization of the AIM1 gene and its major transcripts, Ray et al. (1997) found that AIM1 belongs to the beta-gamma-crystallin superfamily (see 123610). All members of this superfamily contain 2 or 4 characteristic motifs arranged in 1 or 2 symmetrical domains. AIM1, in contrast, contains 12 beta-gamma motifs, suggesting a 6-domain structure resembling a trimer of beta- or gamma-crystallin subunits. The structure of the AIM1 gene shows similarity to the beta-crystallin genes, with homologous introns delineating equivalent protein structural units. Ray et al. (1997) noted that AIM1 was the first mammalian member of the beta-gamma superfamily with a primarily non-lens role. Other parts of the predicted AIM1 protein sequence have weak similarity with filament or actin-binding proteins. The authors suggested that AIM1 is a good candidate for the putative suppressor of malignant melanoma on chromosome 6 (Trent et al., 1990), possibly exerting its effects through interactions with the cytoskeleton.
By fluorescence in situ hybridization, Ray et al. (1996) localized the AIM1 gene to chromosome 6q21, within the putative chromosome 6 tumor suppressor region for human melanoma.
Teichmann et al. (1998) determined that the Aim1 gene is located on mouse chromosome 10 in a conserved linkage group with genes localized to human 6q21.
AIM1 is a gene whose expression is altered in association with tumor suppression in a model of human melanoma (Trent et al., 1990). Chromosome banding analysis of human malignant melanoma documented nonrandom alteration in chromosome 6. To determine the relevance of chromosome 6 abnormalities in melanoma, Trent et al. (1990) directly introduced a normal chromosome 6 into melanoma cell lines. The resulting (+6) microcell hybrids were significantly altered in their phenotypic properties in culture and lost their ability to form tumors in nude mice. The loss of the chromosome 6 from melanoma microcell hybrids resulted in reversion to tumorigenicity of these cells in mice.
Ray, M. E., Su, Y. A., Meltzer, P. S., Trent, J. M. Isolation and characterization of genes associated with chromosome-6 mediated tumor suppression in human malignant melanoma. Oncogene 12: 2527-2533, 1996. [PubMed: 8700511]
Ray, M. E., Wistow, G., Su, Y. A., Meltzer, P. S., Trent, J. M. AIM1, a novel non-lens member of the beta-gamma-crystallin superfamily, is associated with the control of tumorigenicity in human malignant melanoma. Proc. Nat. Acad. Sci. 94: 3229-3234, 1997. [PubMed: 9096375] [Full Text: https://doi.org/10.1073/pnas.94.7.3229]
Teichmann, U., Ray, M. E., Ellison, J., Graham, C., Wistow, G., Meltzer, P. S., Trent, J. M., Pavan, W. J. Cloning and tissue expression of the mouse ortholog of AIM1, a beta-gamma-crystallin superfamily member. Mammalian Genome 9: 715-720, 1998. [PubMed: 9716656] [Full Text: https://doi.org/10.1007/s003359900852]
Trent, J. M., Stanbridge, E. J., McBride, H. L., Meese, E. U., Casey, G., Araujo, D. E., Witkowski, C. M., Nagle, R. B. Tumorigenicity in human melanoma cell lines controlled by introduction of human chromosome 6. Science 247: 568-571, 1990. [PubMed: 2300817] [Full Text: https://doi.org/10.1126/science.2300817]