| *164015 | ||||||||||||||||||
| MATRIN 3; MATR3 | ||||||||||||||||||
| HGNC Approved Gene Symbol: MATR3 | ||||||||||||||||||
| Cytogenetic location: 5q31.2 Genomic coordinates (GRCh37): 5:138,609,440 - 138,667,365 (from NCBI) | ||||||||||||||||||
| Gene Phenotype Relationships | ||||||||||||||||||
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| Cloning | ||||||||||||||||||
| Stuurman et al. (1990) showed that nuclear matrins, a group of proteins in the nuclear matrix, are present in cultured cells from a variety of tissues and are probably common to mammalian cells. Stuurman et al. (1990) differentiated 2 nuclear matrix fractions: the peripheral nuclear matrix (matrix proteins that remain insoluble after reduction), and the internal nuclear matrix (matrix proteins released by reduction). Nakayasu and Berezney (1991) identified several novel nuclear matrins from a rat liver nuclear matrix and characterized them by peptide maps, polyclonal antibodies generated against the individual matrins, and indirect immunofluorescence microscopy. They designated the proteins matrins 3, 4, D-G, 12, and 13. Belgrader et al. (1991) cloned a full-length rat insulinoma cDNA that encodes an acidic internal matrix protein designated matrin-3. The deduced 845-amino acid protein has a calculated molecular mass of approximately 95 kD. Its primary structure consists of 33% charged residues and is generally hydrophilic. Like the lamins (see 150330), matrin-3 has a positively charged N terminus that contains a large number of amino acids with free hydroxyl groups. A highly acidic domain near the C terminus, in which 32% of the amino acids are acidic, is a characteristic found in other nuclear proteins. Nagase et al. (1998) cloned and sequenced matrin-3, which they called KIAA0723, from human brain cDNA libraries. The deduced protein contains 847 amino acids. | ||||||||||||||||||
| Mapping | ||||||||||||||||||
| The International Radiation Hybrid Mapping Consortium mapped the MATR3 gene to chromosome 5 (WI-15469). Using genomic sequence analysis, Senderek et al. (2009) mapped the MATR3 gene to chromosome 5q31. | ||||||||||||||||||
| Molecular Genetics | ||||||||||||||||||
| In 2 unrelated families with a form of distal myopathy that included vocal cord and pharyngeal weakness (MPD2; 606070), Senderek et al. (2009) identified the same missense mutation in the MATR3 gene (S85C; 164015.0001). | ||||||||||||||||||
| ALLELIC VARIANTS (Selected Examples): | ||||||||||||||||||
| Table View | ||||||||||||||||||
| .0001 MYOPATHY, DISTAL, 2 | ||||||||||||||||||
| MATR3, SER85CYS [dbSNP:rs121434591] | ||||||||||||||||||
| In affected members of a North American family originally reported by Feit et al. (1998) and in an unrelated Bulgarian family with distal myopathy with vocal cord and pharyngeal weakness (MPD2; 606070), Senderek et al. (2009) identified heterozygosity for a C-to-G transversion at nucleotide 254 in exon 2 of the MATR3 gene that resulted in a change from serine to cysteine at codon 85 (S85C). | ||||||||||||||||||
| REFERENCES | ||||||||||||||||||
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