| First Author | Zhou Y | Year | 2012 |
| Journal | Invest Ophthalmol Vis Sci | Volume | 53 |
| Issue | 4 | Pages | 1821-9 |
| PubMed ID | 22408009 | Mgi Jnum | J:196723 |
| Mgi Id | MGI:5489819 | Doi | 10.1167/iovs.12-9481 |
| Citation | Zhou Y, et al. (2012) Genomic profiling reveals Pitx2 controls expression of mature extraocular muscle contraction-related genes. Invest Ophthalmol Vis Sci 53(4):1821-9 |
| abstractText | PURPOSE: To assess the influence of the Pitx2 transcription factor on the global gene expression profile of extraocular muscle (EOM) of mice. METHODS: Mice with a conditional knockout of Pitx2, designated Pitx2(Deltaflox/Deltaflox) and their control littermates Pitx2(flox/flox), were used. RNA was isolated from EOM obtained at 3, 6, and 12 weeks of age and processed for microarray-based profiling. Pairwise comparisons were performed between mice of the same age and differentially expressed gene lists were generated. Select genes from the profile were validated using real-time quantitative polymerase chain reaction and protein immunoblot. Ultrastructural analysis was performed to evaluate EOM sarcomeric structure. RESULTS: The number of differentially expressed genes was relatively small. Eleven upregulated and 23 downregulated transcripts were identified common to all three age groups in the Pitx2-deficient extraocular muscle compared with littermate controls. These fell into a range of categories including muscle-specific structural genes, transcription factors, and ion channels. The differentially expressed genes were primarily related to muscle contraction. We verified by protein and ultrastructural analysis that myomesin 2 was expressed in the Pitx2-deficient mice, and this was associated with development of M lines evident in their orbital region. CONCLUSIONS: The global transcript expression analysis uncovered that Pitx2 primarily regulates a relatively select number of genes associated with muscle contraction. Pitx2 loss led to the development of M line structures, a feature more typical of other skeletal muscle. |
