HGNC Approved Gene Symbol: DSC1
Cytogenetic location: 18q12.1 Genomic coordinates (GRCh38): 18:31,129,236-31,162,856 (from NCBI)
The desmosome is a complex adhesive structure that plays a fundamental role in maintaining the strength and integrity of epithelial tissues. Central to this role are transmembrane glycoproteins that mediate cell-cell adhesion at the extracellular surface and interact with the cytoskeleton (via components of the desmosomal plaque), thus linking the intermediate filament networks of adjacent cells. Desmosomal glycoproteins comprise 2 distinct groups, the desmogleins and the desmocollins, both of which are members of the cadherin superfamily of Ca(2+)-dependent cell adhesion molecules (summary by King et al., 1993).
Using specific antibodies against the components of desmosomes, Cowin et al. (1984) identified 2 glycoproteins bound to the cell surface. The glycoproteins of 115 kD and 100 kD were named desmocollins to denote that they are involved in the adhesive function of the desmosomes.
King et al. (1993) isolated a human DSC1 cDNA clone encoding alternatively spliced desmocollin proteins of 760 (variant a) and 706 (variant b) residues. DSC1 shares 53% amino acid sequence identity with the previously isolated type 3 desmocollin (DSC3; 600271); the N and C termini of the mature proteins are more highly conserved. DSC1 is expressed in the more differentiated layers of the epidermis, whereas DSC3 is expressed in the basal layers of the epidermis.
Troyanovsky et al. (1993) stated that both DSC1 and DSC2 (125645) in the human occur in 2 alternatively spliced forms (variants a and b) that have different cytoplasmic domains reflecting different interactions with components of the desmosomal plaque.
Using a panel of somatic cell hybrids, King et al. (1993) assigned the DSC1 gene to chromosome 18, where the DSC2 gene and the 3 desmoglein genes (DSG1, 125670; DSG2, 125671; DSG3, 169615) had previously been mapped.
Cowin, P., Mattey, D., Garrod, D. Identification of desmosomal surface components (desmocollins) and inhibition of desmosome formation by specific FAB-prime. J. Cell Sci. 70: 41-60, 1984. [PubMed: 6389579] [Full Text: https://doi.org/10.1242/jcs.70.1.41]
King, I. A., Arnemann, J., Spurr, N. K., Buxton, R. S. Cloning of the cDNA (DSC1) coding for human type 1 desmocollin and its assignment to chromosome 18. Genomics 18: 185-194, 1993. [PubMed: 8288219] [Full Text: https://doi.org/10.1006/geno.1993.1453]
Troyanovsky, S. M., Eshkind, L. G., Troyanovsky, R. B., Leube, R. E., Franke, W. W. Contributions of cytoplasmic domains of desmosomal cadherins to desmosome assembly and intermediate filament anchorage. Cell 72: 561-574, 1993. [PubMed: 7679953] [Full Text: https://doi.org/10.1016/0092-8674(93)90075-2]