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Gene Review:

Sp100 - nuclear antigen Sp100

Mus musculus

Synonyms: A430075G10Rik, Nuclear autoantigen Sp-100, Nuclear dot-associated Sp100 protein, Speckled 100 kDa

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Disease relevance of Sp100

In this study we present data which show that infection of HEp2 cells with influenza A virus, transformation of glial cells with SV40 DNA, and stimulation of PBL with mitogens affect the expression of the Sp100 autoantigen [1].
About 30% of patients suffering from the chronic autoimmune liver disease primary biliary cirrhosis produce autoantibodies against Sp100, a protein migrating in SDS-PAGE at a position corresponding to 100 kDa and located on discrete dot-shaped nuclear structures [1].

High impact information on Sp100

By in situ hybridization, the Sp100 gene was mapped to locus 2q37, the syntenic region of the HSR on mouse chromosome 1 [2].
The human Sp100 cDNA has recently been cloned and the deduced amino acid sequence was found to contain similarities to several transcriptional regulatory proteins; the biologic function of the Sp100 protein, however, is still unknown [1].
It is a chimeric M. musculus gene that arose by fusion of Csprs and the 5' part of Sp100 [3].
In the species Mus caroli, Sp100 consists of 17 exons that are distributed over a range of 52 kb [4].
The human and murine Sp100 promoters are very similar, and both harbor an interferon-stimulated response element [4].

Biological context of Sp100

M. caroli represents the ancestral genomic organization of the cluster source components Sp100, Csprs and Ifi75: they are located close to each other in the same chromosome band (1D) [3].

Other interactions of Sp100

We identified and analyzed the genes Sp100, Csprs, and Ifi75 in two members of the genus Mus, M. musculus and M. caroli [5].
Thus, Sp100-rs arose relatively late in the evolution of the genus Mus, whereas Sp100 existed in the common ancestor of the human and the mouse [6].

Analytical, diagnostic and therapeutic context of Sp100

Replacement of the murine Sp100 gene by a defective copy is now feasible and should shed light on its function in an animal model [4].
As measured by an immunoblot-based ELISA the amount of Sp100 protein in INF-beta-treated cells (1000 IU/ml, 18 h) was eight to nine times higher than in untreated cells [1].

References

IFN enhance expression of Sp100, an autoantigen in primary biliary cirrhosis. Guldner, H.H., Szostecki, C., Grötzinger, T., Will, H. J. Immunol. (1992) [Pubmed]
A highly amplified mouse gene is homologous to the human interferon-responsive Sp100 gene encoding an autoantigen associated with nuclear dots. Grötzinger, T., Jensen, K., Guldner, H.H., Sternsdorf, T., Szostecki, C., Schwab, M., Savelyeva, L., Reich, B., Will, H. Mol. Cell. Biol. (1996) [Pubmed]
Evolution of a 6-200 Mb long-range repeat cluster in the genus Mus. Traut, W., Rahn, I.M., Winking, H., Kunze, B., Weichehan, D. Chromosoma (2001) [Pubmed]
Structure and expression of the murine Sp100 nuclear dot gene. Weichenhan, D., Kunze, B., Zacker, S., Traut, W., Winking, H. Genomics (1997) [Pubmed]
Source and component genes of a 6-200 Mb gene cluster in the house mouse. Weichenhan, D., Kunze, B., Winking, H., van Geel, M., Osoegawa, K., de Jong, P.J., Traut, W. Mamm. Genome (2001) [Pubmed]
Evolution by fusion and amplification: the murine Sp100-rs gene cluster. Weichenhan, D., Kunze, B., Traut, W., Winking, H. Cytogenet. Cell Genet. (1998) [Pubmed]

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