References
- Solter D. Differential imprinting and expression of maternal and paternal genomes. Annu Rev Genet. 1988;22(1):127–146.
- Surani MA. Genomic imprinting: developmental significance and molecular mechanism. Curr Opin Genet Dev. 1991;1(2):241–246.
- Soellner L, Begemann M, Mackay DJ, et al. Recent advances in imprinting disorders. Clin Genet. 2017;91(1):3–13.
- Scheffner M, Nuber U, Huibregtse JM. Protein ubiquitination involving an E1-E2-E3 enzyme ubiquitin thioester cascade. Nature. 1995;373(6509):81–83.
- Vu TH, Hoffman AR. Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. Nat Genet. 1997;17(1):12–13.
- Rougeulle C, Glatt H, Lalande M. The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. Nat Genet. 1997;17(1):14–15.
- Albrecht U, Sutcliffe JS, Cattanach BM, et al. Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. Nat Genet. 1997;17(1):75–78.
- Miura K, Kishino T, Li E, et al. Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice. Neurobiol Dis. 2002;9(2):149–159.
- Jiang YH, Armstrong D, Albrecht U, et al. Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron. 1998;21(4):799–811.
- Judson MC, Sosa-Pagan JO, Del Cid WA, et al. Allelic specificity of Ube3a expression in the mouse brain during postnatal development. J Comp Neurol. 2014;52(8):1874–1896.
- Yamasaki K, Joh K, Ohta T, et al. Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a. Hum Mol Genet. 2003;12(8):837–847.
- Landers M, Bancescu DL, Le Meur E, et al. Regulation of the large (approximately 1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn. Nucleic Acids Res. 2004;32(11):3480–3492.
- Landers M, Calciano MA, Colosi D, et al. Maternal disruption of Ube3a leads to increased expression of Ube3a-ATS in trans. Nucleic Acids Res. 2005;33(13):3976–3984.
- Chamberlain SJ, Lalande M. Angelman syndrome, a genomic imprinting disorder of the brain. J Neurosci. 2010;30(30):9958–9963.
- Meng L, Person RE, Beaudet AL. Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a. Hum Mol Genet. 2012;21(13):3001–3012.
- Meng L, Person RE, Huang W, et al. Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model. PLoS Genet. 2013;9(12):e1004039.
- Huang HS, Allen JA, Mabb AM, et al. Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons. Nature. 2011;481(7380):185–189. .
- Meng L, Ward AJ, Chun S, et al. Towards a therapy for Angelman syndrome by targeting a long non-coding RNA. Nature. 2015;518:409–412.
- Chamberlain SJ, Brannan CI. The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a. Genomics. 2001;73(3):316–322.
- Hindson BJ, Ness KD, Masquelier DA, et al. High-throughput droplet digital PCR system for absolute quantitation of DNA copy number. Anal Chem. 2011;83(22):8604–8610.
- Petersen M, Nielsen CB, Nielsen KE, et al. The conformations of locked nucleic acids (LNA). J Mol Recognit. 2000;13(1):44–53.
- Jensen GA, Singh SK, Kumar R, et al. A comparison of the solution structures of an LNA:DNA duplex and the unmodified DNA:DNA duplex. J Chem Soc Perkin Trans. 2001;2(7):1224–1232.
- Johnson MP, Haupt LM, Griffiths LR. Locked nucleic acid (LNA) single nucleotide polymorphism (SNP) genotype analysis and validation using real-time PCR. Nucleic Acids Res. 2004;32(6):e55.
- Ugozzoli LA, Latorra D, Puckett R, et al. Real-time genotyping with oligonucleotide probes containing locked nucleic acids. Anal Biochem. 2004;324(1):143–152.
- Frésard L, Leroux S, Servin B, et al. Transcriptome-wide investigation of genomic imprinting in chicken. Nucleic Acids Res. 2014;42(6):3768–3782. .
- Tafaj O, Hann S, Ayturk U, et al. Mice maintain predominantly maternal Gαs expression throughout life in brown fat tissue (BAT), but not other tissues. Bone. 2017;103:177–187.
- Whale AS, Huggett JF, Tzonev S. Fundamentals of multiplexing with digital PCR. Biomol Detect Quantif. 2016;10:15–23.
- Nakagaki A, Hirano S, Urakawa A, et al. Transgenic mice with a tandem duplication of the Necdin gene overexpress Necdin. Mamm Genome. 2018;29(9–10):680–689.
- Sutcliffe JS, Jiang YH, Galijaard RJ, et al. The E6-Ap ubiquitin-proteinLigase (UBE3A) gene is localized within a narrowed angelman syndrome critical region. Genome Res. 1997;7(4):368–377.
- Kishino T, Wagstaff J. Genomic organization of the UBE3A/E6-AP gene and related pseudogenes. Genomics. 1998;47(1):101–107.
- Jones KA, Han JE, DeBruyne JP, et al. Persistent neuronal Ube3a expression in the suprachiasmatic nucleus of Angelman syndrome model mice. Sci Rep. 2016;6(1):28238.
- McCoy ES, Taylor-Blake B, Aita M, et al. Enhanced nociception in angelman syndrome model mice. J Neurosci. 2017;37(42):10230–10239.
- Moison C, Arimondo PB, Guieysse-Peugeot AL. Commercial reverse transcriptase as source of false-positive strand-specific RNA detection in human cells. Biochimie. 2011;93(10):1731–1737.
- Chamberlain SJ, Chen PF, Ng KY, et al. Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader- Willi syndromes. Proc Natl Acad Sci U S A. 2010;107(41):17668–17673.
- Hsiao JS, Germain ND, Wilderman A, et al. A bipartite boundary element restricts UBE3A imprinting to mature neurons. Proc Natl Acad Sci U S A. 2019;116(6):2181–2186.