Research / Scientific departments / Developmental Biology / Units and groups / Mouse molecular genetics

Mouse Molecular Genetics (URA CNRS 2578)

Philip Avner
pavner@pasteur.fr

From epigenetics and X-inactivation to multigenic inheritance and diabetes

Our research into epigenetics is centred around studies on the early regulation of X-inactivation. Approaches involve the genetic dissection of the Xic (X-inactivation centre) using targeted mutagenesis and transgenesis approaches, as well as the study of chromatin modifications associated with the onset of X-inactivation and the accumulation of Xist RNA which result in transcriptional silencing of the entire chromosome.
avner-fig1 avner-fig2
Other studies on epigenetic regulatory mechanisms concern the Nap1l2 gene and are aimed at understanding its role in neurogenesis and in the programming of neural stem cells.
Multigenic inheritance is explored through our studies on type 1 diabetes in the mouse.
For more information, see http://www.pasteur.fr/recherche/unites/Gmm/index-en.html

References

- Morey, C, Navarro, P., Debrand, E., Avner, P., Rougeulle, C. and Clerc, P. (2004) The region 3’ to Xist mediates the counting function of X chromosome inactivation and targets H3 Lys-4 dimethylation to within the Xist gene. EMBO J. 23:594-604
- Rougeulle, C., Chaumeil J., Sarma, K., Sinkai, Y., Allis, D. Reinberg, D., Avner, P. and Heard. E. (2004) Differential histone H3 Lys-9 and Lys-27 methylation profiles on the X chromosome. Mol. Cell. Biol. 24 : 5475-5484
- Sousa-Nunes, R., Rana, A., Kettleborough, R., Brickman, J.M., Clements, M., Forrest, A., Grimmond, S., Avner, P., Smith, J.C., Dunwoodie, S.L. and Beddington, R.S. (2003) Characteristing embryonic gene expression patterns in the mouse using non-redundant sequence-based selection. Genome Research, 13 : 2609-2620.