Skip to main content

Expression of selected genes escaping from X inactivation in the 41, XXY* mouse model for Klinefelter’s syndrome

Buy Article:

$51.00 plus tax (Refund Policy)

Abstract:

Abstract 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, XXY* 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 XXY* 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, XXY* males resembled the female expression pattern in all four candidate genes and were distinguishable from XY* males. Contrastingly, in brain tissue XXY* males expressed all four genes higher than male and female controls. Conclusion: 

Altered expression of genes escaping X inactivation probably contributes directly to the XXY* phenotype.

Keywords: Escapees; Gene expression; Klinefelter’s syndrome; X inactivation; XXY* mouse

Document Type: Research Article

DOI: https://doi.org/10.1111/j.1651-2227.2010.02112.x

Publication date: 2011-06-01

  • Access Key
  • Free content
  • Partial Free content
  • New content
  • Open access content
  • Partial Open access content
  • Subscribed content
  • Partial Subscribed content
  • Free trial content
Cookie Policy
X
Cookie Policy
Ingenta Connect website makes use of cookies so as to keep track of data that you have filled in. I am Happy with this Find out more