| First Author | Werler S | Year | 2011 |
| Journal | Acta Paediatr | Volume | 100 |
| Issue | 6 | Pages | 885-91 |
| PubMed ID | 21241365 | Mgi Jnum | J:178289 |
| Mgi Id | MGI:5297951 | Doi | 10.1111/j.1651-2227.2010.02112.x |
| Citation | Werler S, et al. (2011) Expression of selected genes escaping from X inactivation in the 41, XX(Y)* mouse model for Klinefelter's syndrome. Acta Paediatr 100(6):885-91 |
| abstractText | AIM: We hypothesized that patients with Klinefelter's syndrome (KS) not only undergo X inactivation, but also that genes escape from inactivation. Their transcripts would constitute a significant difference, as male metabolism is not adapted to a 'female-like' gene dosage. We evaluated the expression of selected X-linked genes in our 41, XX(Y)* male mice to determine whether these genes escape inactivation and whether tissue-specific differences occur. METHODS: Correct X inactivation was identified by Xist expression. Relative expression of X-linked genes was examined in liver, kidney and brain tissue by real-time PCR in adult XX(Y)* and XY* males and XX females. RESULTS: Expression of genes known to escape X inactivation was analysed. Relative mRNA levels of Pgk1 (control, X inactivated), and the genes Eif2s3x, Kdm5c, Ddx3x and Kdm6a escaping from X inactivation were quantified from liver, kidney and brain. Pgk1 mRNA expression showed no difference, confirming correct X inactivation. In kidney and liver, XX(Y)* males resembled the female expression pattern in all four candidate genes and were distinguishable from XY* males. Contrastingly, in brain tissue XX(Y)* males expressed all four genes higher than male and female controls. CONCLUSION: Altered expression of genes escaping X inactivation probably contributes directly to the XX(Y)* phenotype. |
