{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nStudies on the Prader‐Willi/Angelman region have elucidated a sophisticated network of imprinting control mechanisms that regulate a cluster of developmentally critical genes. Research has demonstrated that an imprinting center located near the SNRPN promoter region is essential for the coordination of imprinted gene expression, with deletions or epigenetic alterations in this locus leading to syndromes such as Prader–Willi. Detailed analyses in mice have revealed that while mutations in SNRPN alone may be insufficient to cause the full syndrome, disruptions in the broader imprinted domain (including regulatory sequences, methylation‐sensitive regions, and upstream exons) critically affect gene expression and neural development. In particular, these studies have shown dynamic, development‐ and tissue‐specific changes in methylation patterns that are necessary for appropriate neuronal migration, neurite outgrowth, and dendritic spine formation, underscoring the role of regulated imprinting in brain development and function."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn contrast to the extensively characterized imprinting mechanisms in the PWS/AS region, recent genome‐wide association studies have identified a locus on chromosome 18q11.2 that is associated with high serum triglyceride levels in Mexicans. Within this associated region, TMEM241 emerges as one of five candidate genes and is hypothesized to be regulated by lead single‐nucleotide polymorphisms or their proxies. Although the precise biological function of TMEM241 remains to be fully elucidated, its linkage to this metabolic phenotype implicates it as a potentially important contributor to lipid homeostasis and metabolic regulation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "T Yang, T E Adamson, J L Resnick, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A mouse model for Prader-Willi syndrome imprinting-centre mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (1998)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng0598-25"}], "href": "https://doi.org/10.1038/ng0598-25"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "9590284"}], "href": "https://pubmed.ncbi.nlm.nih.gov/9590284"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "R Shemer, Y Birger, A D Riggs, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Transcription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1002422"}], "href": "https://doi.org/10.1371/journal.pgen.1002422"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22242001"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22242001"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Xing-Wei Liang, Jia-Qiao Zhu, Yi-Liang Miao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Loss of methylation imprint of Snrpn in postovulatory aging mouse oocyte."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2008.03.105"}], "href": "https://doi.org/10.1016/j.bbrc.2008.03.105"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18381202"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18381202"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Ke-Ren Cheng, Xiang-Wei Fu, Rui-Na Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Effect of oocyte vitrification on deoxyribonucleic acid methylation of H19, Peg3, and Snrpn differentially methylated regions in mouse blastocysts."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Fertil Steril (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.fertnstert.2014.06.037"}], "href": "https://doi.org/10.1016/j.fertnstert.2014.06.037"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25064401"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25064401"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Huiping Li, Pingping Zhao, Qiong Xu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The autism-related gene SNRPN regulates cortical and spine development via controlling nuclear receptor Nr4a1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/srep29878"}], "href": "https://doi.org/10.1038/srep29878"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27430727"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27430727"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Ting-Fen Tsai, Ken-Shiung Chen, John S Weber, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Evidence for translational regulation of the imprinted Snurf-Snrpn locus in mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/11.14.1659"}], "href": "https://doi.org/10.1093/hmg/11.14.1659"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12075010"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12075010"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Kazumi Miyazaki, Christophe K Mapendano, Tomokazu Fuchigami, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Developmentally dynamic changes of DNA methylation in the mouse Snurf/Snrpn gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gene (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.gene.2008.11.019"}], "href": "https://doi.org/10.1016/j.gene.2008.11.019"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19095049"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19095049"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Hye Jeong Lee, Na Young Choi, Seung-Won Lee, et al. 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