{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n FMR1‐AS1 is an antisense long noncoding RNA originating from the FMR1 gene locus that appears to be intricately linked with the transcriptional status of FMR1. Two independent studies have shown that this transcript is processed—being spliced, polyadenylated, and exported to the cytoplasm—and demonstrates expression patterns that mirror those of FMR1, with upregulation in premutation alleles and silencing in full mutation conditions"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ";."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Notably, FMR1‐AS1 exhibits alternative splicing specific to the premutation state, suggesting that it may contribute to the phenotypic variability observed in FMR1‐related disorders. In addition, evidence implicates the involvement of regulatory proteins such as CTCF in maintaining the active chromatin conformation necessary for both FMR1 and FMR1‐AS1 expression; depletion of such factors leads to chromatin changes and a concomitant decrease in FMR1‐AS1 levels. Collectively, these data indicate that FMR1‐AS1 may act as a regulatory RNA involved in modulating FMR1 expression and possibly influencing the cellular pathways that determine disease phenotypes in fragile X–associated conditions.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Paula D Ladd, Leslie E Smith, Natalia A Rabaia, et al. "}, {"type": "b", "children": [{"type": "t", "text": "An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddm293"}], "href": "https://doi.org/10.1093/hmg/ddm293"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17921506"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17921506"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Stella Lanni, Martina Goracci, Loredana Borrelli, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Role of CTCF protein in regulating FMR1 locus transcription."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1003601"}], "href": "https://doi.org/10.1371/journal.pgen.1003601"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23874213"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23874213"}]}]}]}