Alternative titles; symbols
HGNC Approved Gene Symbol: EXOSC10
Cytogenetic location: 1p36.22 Genomic coordinates (GRCh38) : 1:11,066,618-11,099,869 (from NCBI)
Antinucleolar antibodies are found in patients with scleroderma or polymyositis or in patients with overlap of these 2 syndromes. The 2 most prominent proteins in this PMSCL autoantigen complex, PMSCL1 (606180) and PMSCL2, are detected as 75- and 100-kD molecules, respectively. By screening a thymocyte cDNA library with PMSCL sera, followed by 5-prime RACE, Ge et al. (1992) obtained a cDNA encoding PMSCL2. The deduced 860-amino acid protein contains 2 potential N-glycosylation sites and multiple potential phosphorylation sites. Northern blot analysis revealed expression of a 2.7-kb transcript. Immunoblot analysis confirmed the identity of native and recombinant 100-kD PMSCL2 proteins.
Using affinity-purified anti-100-kD antibodies to screen a HeLa cell cDNA library, followed by probing a placenta cDNA library, Bluthner and Bautz (1992) isolated a cDNA encoding PMSCL2. Sequence analysis predicted that the 885-amino acid protein contains a stretch of amino acids also found in serine/threonine kinases. Epitope mapping indicated a major epitope is localized between residues 153 and 324. Immunofluorescence microscopy using rabbit antisera raised against the recombinant protein demonstrated nucleolar localization.
Gross (2014) mapped the EXOSC10 gene to chromosome 1p36.22 based on an alignment of the EXOSC10 sequence (GenBank BC039901) with the genomic sequence (GRCh37).
Bluthner, M., Bautz, F. A. Cloning and characterization of the cDNA coding for a polymyositis-scleroderma overlap syndrome-related nucleolar 100-kD protein. J. Exp. Med. 176: 973-980, 1992. [PubMed: 1383382] [Full Text: https://doi.org/10.1084/jem.176.4.973]
Ge, Q., Frank, M. B., O'Brien, C., Targoff, I. N. Cloning of a complementary DNA coding for the 100-kD antigenic protein of the PM-Scl autoantigen. J. Clin. Invest. 90: 559-570, 1992. [PubMed: 1644924] [Full Text: https://doi.org/10.1172/JCI115895]
Gross, M. B. Personal Communication. Balimore, Md. 6/25/2014.