{"product_id":"an-rna-regulates-the-epigenetic-switch-at-the-basis-of-fshd-von-daphne-s-cabianca","title":"An RNA regulates the epigenetic switch at the basis of FSHD","description":"\u003cp\u003eFSHD is an autosomal dominant disease associated with contraction of D4Z4 repeats, mapping to 4q35. By an unknown mechanism, D4Z4 deletion causes an epigenetic switch leading to de-repression of 4q35 genes.  Repression by D4Z4 displays similarities with Polycomb-mediated silencing. Polycomb (PcG) and Trithorax (TrxG) group proteins work as counteractors in the epigenetic regulation of gene expression.   Transcription of PcG-binding regions can regulate PcG activity. Intriguingly, it is shown here that D4Z4 generates a chromatin-bound RNA selectively in FSHD patients and upon 4q35 de-repression. This transcript is specifically 4q35-associated and is required for 4q35 gene de-repression. Interestingly, the identified RNA promotes the recruitment of the TrxG protein Ash1L to the FSHD locus. Notably, Ash1L is necessary for 4q35 gene de-repression.  These results suggest that the RNA functions by recruiting Ash1L to counteract PcG silencing at D4Z4 leading to 4q35 gene de-repression in FSHD. This work provides a nexus for revealing the epigenetic basis of FSHD etiology. Moreover, this study gives insights into the biological function of repetitive elements.\u003c\/p\u003e\u003cdiv class=\"aw-variant-hidden-subtitle-div\" id=\"aw-variant-subtitle-9783846528129\"\u003e\u003ch3\u003eA Polycomb\/Trithorax Epigenetic Switch in Muscular Dystrophy\u003c\/h3\u003e\u003c\/div\u003e","brand":"Autorenwelt Shop","offers":[{"title":"Softcover - 9783846528129","offer_id":39487814074461,"sku":"9783846528129","price":49.0,"currency_code":"EUR","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0940\/0622\/files\/09a3c3b5-e12d-45bf-885c-4b79a1876779.jpg?v=1773296922","url":"https:\/\/shop.autorenwelt.de\/products\/an-rna-regulates-the-epigenetic-switch-at-the-basis-of-fshd-von-daphne-s-cabianca","provider":"Autorenwelt Shop","version":"1.0","type":"link"}