{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n The analyses of C11orf72 across these studies indicate that this gene is a recently evolved, human‐specific open reading frame. In one study, C11orf72 (also known as FLJ90834) was predicted to encode a protein that appears to be unique to humans, as its DNA sequence is absent from other primate species. Detailed expression studies in multiple normal and cancerous tissues revealed no detectable transcriptional activity, and its promoter region—located near the housekeeping gene NDUFV1—is highly methylated. When expressed as fluorescent fusion proteins in human cell lines, the C11orf72 protein exhibited diffuse intracellular distribution without any cytotoxic or promitotic effects, suggesting that it lacks robust functional activity in cellular growth or viability (3)."}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In a separate analysis examining the genetic determinants of cord blood IgE levels—a marker for early allergic sensitization—C11orf72 was identified among several genes (including IL13, IL17A, and ADAM33) significantly associated with neonatal IgE elevation. Although the functional role of C11orf72 remains unestablished, its inclusion in this genetic association study suggests that it may contribute, directly or indirectly, to the complex gene‐gene interactions underlying early immune predisposition. This finding, combined with its apparent lack of overt cellular activity in controlled systems, implies that C11orf72 might be a byproduct of human genomic evolution whose involvement in immune pathways awaits further clarification (1,3,4)."}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Notably, while another study focused on Machado–Joseph disease (a distinct neurodegenerative condition) did not address C11orf72, its inclusion here underscores the broader context of investigating human-specific genes in disease-associated settings (2). Collectively, these findings support the concept that new protein-coding genes can arise through simple mutational events in the human genome, yet their functional significance—especially in complex pathways such as immune regulation—remains to be fully elucidated.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n (1)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ", (2)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ", (3)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ", (4)."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Jen-Chieh Chang, Ho-Chang Kuo, Te-Yao Hsu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Different genetic associations of the IgE production among fetus, infancy and childhood."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0070362"}], "href": "https://doi.org/10.1371/journal.pone.0070362"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23936416"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23936416"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Fulya Akçimen, Sandra Martins, Calwing Liao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Aging (Albany NY) (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.18632/aging.102825"}], "href": "https://doi.org/10.18632/aging.102825"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32205469"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32205469"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "K K Baskaev, R V Kholodenko, G V Malakhova, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Experimental analysis of human specific protein coding open reading frame c11orf72]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Bioorg Khim (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1134/s1068162013020039"}], "href": "https://doi.org/10.1134/s1068162013020039"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23964515"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23964515"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "K D Yang, J-C Chang, H Chuang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Gene-gene and gene-environment interactions on IgE production in prenatal stage."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Allergy (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1398-9995.2009.02260.x"}], "href": "https://doi.org/10.1111/j.1398-9995.2009.02260.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19968631"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19968631"}]}]}]}