OMIM Result

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ABSENT IN MELANOMA 1; AIM1

Gene map locus 6q21

TEXT

AIM1 (absent in melanoma-1) is a novel 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.

By fluorescence in situ hybridization, Ray et al. (1996) localized the human AIM1 gene to 6q21 within the putative chromosome 6 tumor suppressor region for human melanoma. Upon characterization of the AIM1 gene and its major transcripts, Ray et al. (1997) unexpectedly found that AIM1 belongs to the beta-gamma-crystallin superfamily (see 123610). All known 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 remarkable 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.

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.

REFERENCES

1. 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 ID : 8700511
2. 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 ID : 9096375
3. 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 ID : 9716656
4. 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 ID : 2300817

CONTRIBUTORS

Victor A. McKusick - updated : 9/18/1998
Victor A. McKusick - updated : 6/5/1997

CREATION DATE

Victor A. McKusick : 5/13/1997

EDIT HISTORY

carol : 12/3/2003
alopez : 8/19/1999
alopez : 8/19/1999
dkim : 9/23/1998
terry : 9/18/1998
mark : 6/13/1997
terry : 6/5/1997
mark : 5/14/1997
jenny : 5/13/1997