{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n A recent study on autosomal‐dominant retinitis pigmentosa (adRP) identified eight distinct complex structural variants (SVs) in affected families by mapping SV breakpoints to a genomic region extending from YPEL2 to LINC01476."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Although the investigation primarily focused on the formation of neo–topologically associating domains (neo‐TADs) that result in aberrant interactions between retinal enhancers and the GDPD1 gene—leading to increased retinal expression and a likely dominant gain‐of‐function—the study did not assign a direct regulatory or functional role to LINC01476. Rather, LINC01476 serves as a genomic landmark delineating part of the affected region. Its location at the boundary where SV breakpoints occur suggests that, when disrupted, the integrity of chromatin organization and local topological domains may be compromised. This disruption underlies the misregulation of nearby genes essential for retinal integrity. In summary, while LINC01476 itself does not appear to enact a distinct functional role in retinal biology, its placement within the RP17 locus is critical in maintaining the normal chromatin architecture, and its involvement in SV breakpoints implicates the region in disease pathogenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Suzanne E de Bruijn, Alessia Fiorentino, Daniele Ottaviani, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2020.09.002"}], "href": "https://doi.org/10.1016/j.ajhg.2020.09.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33022222"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33022222"}]}]}]}