{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nNPAP1, formerly known as C15orf2, is located in the imprinted Prader–Willi syndrome region on human chromosome 15 and exhibits a complex, tissue‐specific expression pattern. In studies of the PWS region, NPAP1/C15orf2 has been shown to display biallelic expression in tissues such as testis and kidney yet monoallelic expression in fetal brain, suggesting a potential role in neurodevelopment and dosage-sensitive processes. Structural genomic investigations have also implicated microdeletions in the 15q region as risk factors for idiopathic generalized epilepsies, highlighting that perturbations in imprinted genes within this locus—including NPAP1—may contribute to a broad spectrum of neuropsychiatric phenotypes."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nFunctional studies have demonstrated that NPAP1 encodes a protein that localizes at the inner surface of the nuclear envelope, where it colocalizes with nuclear pore complexes and nuclear lamins. Overexpression of NPAP1 can induce invaginations of the nuclear envelope, underscoring its involvement in nuclear architecture and potentially in the regulation of nucleo‐cytoplasmic transport. These findings establish NPAP1 as a bona fide component of the nuclear pore or its associated molecular networks."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nEvolutionary analyses further reveal that NPAP1 is a primate‐specific retrogene that appears to have originated from the retrotransposition of the ancestral nucleoporin gene POM121. Its absence in rodents coupled with strong positive Darwinian selection in primates signals a potentially critical, perhaps uniquely primate, role in neurodevelopment and cellular function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Karin Buiting, Hülya Nazlican, Danuta Galetzka, et al. "}, {"type": "b", "children": [{"type": "t", "text": "C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genomics (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ygeno.2006.12.008"}], "href": "https://doi.org/10.1016/j.ygeno.2006.12.008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17337158"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17337158"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Carolien G F de Kovel, Holger Trucks, Ingo Helbig, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awp262"}], "href": "https://doi.org/10.1093/brain/awp262"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19843651"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19843651"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Michaela Wawrzik, Unga Arifa Unmehopa, Dick Frans Swaab, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selection."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurogenetics (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10048-009-0231-z"}], "href": "https://doi.org/10.1007/s10048-009-0231-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20020165"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20020165"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Lisa C Neumann, Yolanda Markaki, Emil Mladenov, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/dds228"}], "href": "https://doi.org/10.1093/hmg/dds228"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22694955"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22694955"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Lisa C Neumann, Nathalie Feiner, Axel Meyer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genome Biol Evol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/gbe/evu019"}], "href": "https://doi.org/10.1093/gbe/evu019"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24482533"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24482533"}]}]}]}