{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Although neither study set out to characterize EOLA2 directly, insights from two recent large‐scale analyses allow us to speculate on its potential function. In one study, a systematic next‐generation sequencing analysis of X‐inactivation in human lymphoblasts identified numerous “escape” genes—that is, X‐linked genes that evade the usual silencing observed in female mammals (1). Among these newly defined escapees, candidate genes like EOLA2 may contribute to the phenotypic variability observed in polyX conditions, including mental retardation, by virtue of their “active” status even in otherwise inactivated chromosomal regions. In a complementary study, candidate genes for human preimplantation development were assessed by comparing gene expression profiles from the oocyte to early embryo stages (2). The dynamic regulation of these genes immediately after fertilization—including a subset that shows discordant expression profiles between human and mouse—points to roles in the maternal–to–zygotic transition and potentially in early embryogenesis. Given that proper dosage compensation and precise temporal activation of regulatory networks are critical in early development, it is plausible that EOLA2 functions as a regulatory factor that may bridge the mechanisms of X‐chromosome inactivation escape with those governing early embryonic gene expression. Combined, these studies implicate EOLA2 as a gene whose escape from silencing could not only influence X‐linked gene dosage in females but might also be important for the early events of human development, with further implications for fertility and possibly related disease processes (1,2)."}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Yuchao Zhang, Atahualpa Castillo-Morales, Min Jiang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genes that escape X-inactivation in humans have high intraspecific variability in expression, are associated with mental impairment but are not slow evolving."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Evol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/molbev/mst148"}], "href": "https://doi.org/10.1093/molbev/mst148"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24023392"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24023392"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Elo Madissoon, Virpi Töhönen, Liselotte Vesterlund, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Differences in gene expression between mouse and human for dynamically regulated genes in early embryo."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0102949"}], "href": "https://doi.org/10.1371/journal.pone.0102949"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25089626"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25089626"}]}]}]}