Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty
David E Godler, Yoshimi Inaba, Elva Z Shi, Cindy Skinner, Quang M Bui, David Francis, David J Amor, John L Hopper, Danuta Z Loesch, Randi J Hagerman, Charles E Schwartz, Howard R Slater
Human Molecular Genetics | OXFORD UNIV PRESS | Published : 2013
Awarded by NHMRC
Awarded by National Institute of Child Health and Human Development, USA
D.E.G. is an inventor on a patent related to the technology described in this article. R.J.H. has received grant funding from Roche, Novartis, Seaside Therapeutics, Forest and Curemark for treatment studies in fragile X syndrome or autism. She has also consulted with Novartis regarding treatment of fragile X syndrome. The other authors declare that they have no conflicts of interest.This work was supported by the Victorian Government's Operational Infrastructure Support Program, NHMRC development grant (No 1017263 to H. R. S. and D. E. G.), E. W. Al Thrasher Award, USA (to H. R. S. and D. E. G.), Martin & E. H. Flack Trust, Australia (to H. R. S. and D. E. G.), National Institute of Child Health and Human Development grant, USA (HD36071 to D.Z.L. and R.J.H.) and in part by a grant from the South Carolina Department of Disabilities and Special Needs (SCDDSN). This study was also supported by NHMRC project grant (No 104299 to H. R. S. and D.E.G.).