Journal article
Loss of p53 Causes Stochastic Aberrant X-Chromosome Inactivation and Female-Specific Neural Tube Defects
ARD Delbridge, AJ Kueh, F Ke, NM Zamudio, F El-Saafin, N Jansz, GY Wang, M Iminitoff, T Beck, S Haupt, Y Hu, RE May, L Whitehead, L Tai, W Chiang, MJ Herold, Y Haupt, GK Smyth, T Thomas, ME Blewitt Show all
Cell Reports | CELL PRESS | Published : 2019
Abstract
The molecular mechanisms underlying the female bias of neural tube defects are currently unclear. Delbridge et al. present evidence that p53 is required for normal Xist expression and X chromosome inactivation and show in two models that partial failure of X chromosome inactivation is associated with female-biased neural tube defects.
Grants
Awarded by Leukemia and Lymphoma Society
Funding Acknowledgements
We thank Drs. C. Scott, T. Jacks, A. Villunger, T. Kaufmann, D. C. S. Huang, S.J. Korsmeyer, C. Thompson, J.M. Adams, and P. Bouillet for gifts of mice; Moshe Oren, Antonio Constanzo, and Giovanni Blandino for provision of reagents; K. Humphries, K. Walker, E. Lanera, J. Mansheim, G. Siciliano, S. O'Connor, K. Trueman, G. Dabrowski, and K. Vella for expert animal care; and B. Helbert, H. Ierino, K. Mackwell, and C. Young for mouse genotyping. C. Scott was responsible for the initial mating of the Bim<SUP>-/-</SUP> and p53<SUP>-/-</SUP> strains and generously bequeathed this colony. This work was supported by grants and fellowships from the Cancer Council of Victoria (A.R.D.D., Sydney Parker Smith Postdoctoral Research Fellowship), the National Health and Medical Research Council (program grant no. 1016701; SPRF Fellowship 1020363 to A. S.; SRF Fellowships 575512 and 1081421 to A.K.V.; PRF Fellowship 1058892 and program grant 1054618 to G. K. S.; project grants 1051078 and 1084504), the Leukemia and Lymphoma Society (SCOR grant no. 7001-13), the estate of Anthony (Toni) Redstone OAM, Australian Postgraduate Awards (A.R.D.D., N.J., and F.E.-S.), The Bellberry-Viertel Senior Medical Research Fellowship (M.E.B.) and Cancer Therapeutics CRC Top-up Scholarship (A.R.D.D.), the Peter MacCallum Cancer Foundation (S. H.) and NHMRC 1123057, and National Breast Cancer Foundation IN-16-042 (Y. Haupt). This work was made possible by operational infrastructure grants through the Australian Government IRISS and the Victorian State Government OIS.