Identification of genes that are differentially expressed in extraocular and limb muscle.

The extraocular muscles (EOM) are anatomically and physiologically distinct from other striated muscles in mammals. Among other differences, they can be driven to generate individual twitch contractions at an extremely high frequency and are resistant to [Ca(2+)]-induced myonecrosis. While EOM are preferentially targeted in some neuromuscular diseases such as myasthenia gravis and congenital fibrosis of the extraocular muscles, they are enigmatically spared in Duchenne's muscular dystrophy, despite the widespread damage seen in all other skeletal muscle groups during the course of this disease. To address the molecular mechanisms that specify the EOM-phenotype, we characterized the transcriptional profile of genes expressed in rat EOM versus limb muscle using a differential display strategy. Ninety-five putative differentially expressed cDNA tags were cloned, from which fourteen were confirmed as being differentially expressed by RNA slot blot and Northern blot analysis. Ten of these cDNAs were homologous to known human or murine genes and ESTs, while four genes that were upregulated in EOM were novel, and have been named expressed in ocular muscle (eom) 1-4. The identification of these differentially expressed genes may provide mechanistic clues toward understanding the unique patho-physiological phenotype of EOM.