Investigators: Galina N Filippova PhD, Daniel G Miller MD PhD
Category: Research - Basic
Facioscapulohumeral muscular dystrophy (FSHD) is caused by incomplete repression of the D4Z4 macrosatellite repeat array on the disease-permissive chromosome 4q that results in aberrant expression of DUX4, the candidate FSHD gene imbedded within the D4Z4 repeat. Previously, we have shown that multiple sense and antisense transcripts as well as small RNAs are expressed from D4Z4 units. We hypothesize that small RNAs generated from D4Z4 long non-coding sense and/or antisense transcripts are involved in heterochromatin formation by recruiting chromatin modifiers to the D4Z4 target regions and leading to increased repressive chromatin modifications and DNA methylation that result in DUX4 epigenetic silencing. Here we propose to identify these RNAs by deep sequencing of small RNA populations in cells from FSHD-affected and unaffected people.
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