Monitoring for epigenetic modifications at the FMR1 locus

Abstract

The vast majority of fragile X affected patients do not transcribe FMR1 due to a CGG repeat expansion in the 5′-untranslated region of the FMR1 gene. When the CGGs considerably expand, it elicits abnormal DNA methylation and histone modifications, which are responsible for FMR1 transcriptional silencing. In this chapter, we describe in detail two commonly used protocols for monitoring the epigenetic state of the FMR1 gene that bypass the difficulty in directly analyzing the CGGs. One protocol is for accurately measuring DNA methylation levels and the other is for profiling histone modifications.