Yamasaki K, Joh K, Ohta T, Masuzaki H, Ishimaru T, Mukai T et al.. Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a. Hum Mol Genet 12: 837-847

Brain Science Institute (BSI), RIKEN, Вако, Saitama, Japan
Human Molecular Genetics (Impact Factor: 6.39). 05/2003; 12(8):837-47. DOI: 10.1093/hmg/ddg106
Source: PubMed


The human UBE3A gene shows brain-specific partial imprinting, and lack of a maternally inherited allele causes Angelman syndrome (AS), which is characterized by neurobehavioral anomalies. In several AS model mice, imprinted Ube3a expression is detected predominantly in the hippocampus, cerebellar Purkinje cells and the olfactory bulb. Therefore, imprinting of mouse Ube3a is thought to be region-specific with different levels of silencing of the paternal Ube3a allele in different brain regions. To determine cell types of imprinted Ube3a expression, we analyzed its imprinting status in embryonic brain cells by using primary cortical cell cultures. RT-PCR and immunofluorescence were performed to determine the allelic expression of the gene. The Ube3a gene encodes two RNA transcripts in the brain, sense and antisense. The sense transcript was expressed maternally in neurons but biallelically in glial cells in the embryonic brain, whereas the antisense transcript was expressed only in neurons and only from the paternal allele. Our data present evidence of brain cell type-specific imprinting, i.e. neuron-specific imprinting of Ube3a in primary brain cell cultures. Reciprocal imprinting of sense and antisense transcripts present only in neurons suggests that the neuron-specific imprinting mechanism is related to the lineage determination of neural stem cells.

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Available from: Keiichiro Joh, Dec 20, 2013
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    • "The vast majority of individuals afflicted with AS has deletions in the long arm of chromosome 15 within the 15q11–13 region encoding for the UBe3a gene [71] [72]. UBe3a is genomically imprinted, causing the paternal allele to be epigenetically silenced selectively in neurons [73] [74] [75] [76] [77] [78] [79]. "
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    • "The parental imprint of some loci, such as UBE3A, can be detected in only some tissues [Yamasaki et al., 2003]. DNA extracted from whole blood may not necessarily capture LRRTM1 imprinting strongly, as this is primarily a gene with neuronal functions. "
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