Published in
Oxford University Press (OUP), Human Molecular Genetics, 8(19), p. 1618-1632
DOI: 10.1093/hmg/ddq037
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Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.
,
Annette Kimball Taylor,
Freya Gehling,
Randi Jenssen Hagerman,
Trent Burgess,
Devika Ganesamoorthy,
Debbie Hennerich,
Lavinia Gordon,
Andrew Evans,
K. H. Choo,
Howard Robert Slater
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Abstract
The fragile X syndrome (FXS) is caused by silencing of the fragile X mental retardation gene (FMR1) and the absence of its product, fragile X mental retardation protein (FMRP), resulting from CpG island methylation associated with large CGG repeat expansions (more than 200) termed full mutation (FM). We have identified a number of novel epigenetic markers for FXS using matrix-assisted laser desorption/ionization-time of flight mass spectrometry (MALDI-TOF MS), naming the most informative fragile X-related epigenetic element 1 (FREE1) and 2 (FREE2). Methylation of both regions was correlated with that of the FMR1 CpG island detected using Southern blot (FREE1 R = 0.97; P