{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n FAM230A is a member of a long intergenic non‐coding RNA (lincRNA) gene family that appears to be involved in modulating key cellular processes through its participation in gene fusion events. In one study, a balanced t(9;22)(p21;q11.2) translocation in a patient with melanoma, DNA repair deficiency, and features of DiGeorge syndrome led to the creation of a chimeric transcript comprising portions of the tumor suppressor p14ARF and FAM230A."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " The resulting fusion transcript exerted a dominant negative effect on p14ARF, impairing its normal function in DNA repair and influencing the expression of TBX1—a gene important for inner ear development and implicated in DiGeorge syndrome. Such findings suggest that FAM230A, while itself part of a broader family of lincRNA genes formed by sequence duplication events in regions prone to genomic instability"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ", may contribute to disease states by acting in translocation-induced chimeric events that disrupt normal gene dosage and function. This novel role of FAM230A emphasizes how alterations in non‐coding RNA genes can impact tumor suppression and developmental pathways.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Xiaohui Tan, Sarah L Anzick, Sikandar G Khan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.22354"}], "href": "https://doi.org/10.1002/humu.22354"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23661601"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23661601"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Nicholas Delihas "}, {"type": "b", "children": [{"type": "t", "text": "A family of long intergenic non-coding RNA genes in human chromosomal region 22q11.2 carry a DNA translocation breakpoint/AT-rich sequence."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0195702"}], "href": "https://doi.org/10.1371/journal.pone.0195702"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29668722"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29668722"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Nicholas Delihas "}, {"type": "b", "children": [{"type": "t", "text": "Formation of human long intergenic non-coding RNA genes, pseudogenes, and protein genes: Ancestral sequences are key players."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0230236"}], "href": "https://doi.org/10.1371/journal.pone.0230236"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32214344"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32214344"}]}]}]}