Article
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.
Human molecular genetics - 15 Apr 2013
Godler David E, Inaba Yoshimi, Shi Elva Z, Skinner Cindy, Bui Quang M, Francis David, Amor David J, Hopper John L, Loesch Danuta Z, Hagerman Randi J, Schwartz Charles E, Slater Howard R
Abstract excerpt
Methylation of the fragile X-related epigenetic element 2 (FREE2) located on the exon 1/intron 1 boundary of the FMR1 gene is related to FMRP expression and cognitive impairment in full mutation (FM; CGG>200) individuals. We examined the relationship between age, the size of the FMR1 CGG expansion and the methylation output ratio (MOR) at 12 CpG sites proximal to the exon 1/intron 1 boundary using FREE2 MALDI-TOF...
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