Genomic imprinting does not reduce the dosage of UBE3A in neurons View Full Text


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Article Info

DATE

2017-05-15

AUTHORS

Paul R. Hillman, Sarah G. B. Christian, Ryan Doan, Noah D. Cohen, Kranti Konganti, Kory Douglas, Xu Wang, Paul B. Samollow, Scott V. Dindot

ABSTRACT

BackgroundThe ubiquitin protein E3A ligase gene (UBE3A) gene is imprinted with maternal-specific expression in neurons and biallelically expressed in all other cell types. Both loss-of-function and gain-of-function mutations affecting the dosage of UBE3A are associated with several neurodevelopmental syndromes and psychological conditions, suggesting that UBE3A is dosage-sensitive in the brain. The observation that loss of imprinting increases the dosage of UBE3A in brain further suggests that inactivation of the paternal UBE3A allele evolved as a dosage-regulating mechanism. To test this hypothesis, we examined UBE3A transcript and protein levels among cells, tissues, and species with different imprinting states of UBE3A.ResultsOverall, we found no correlation between the imprinting status and dosage of UBE3A. Importantly, we found that maternal Ube3a protein levels increase in step with decreasing paternal Ube3a protein levels during neurogenesis in mouse, fully compensating for loss of expression of the paternal Ube3a allele in neurons.ConclusionsBased on our findings, we propose that imprinting of UBE3A does not function to reduce the dosage of UBE3A in neurons but rather to regulate some other, as yet unknown, aspect of gene expression or protein function. More... »

PAGES

27

References to SciGraph publications

  • 1997-09. The Angelman syndrome candidate gene, UBE3AIE6-AP, is imprinted in brain in NATURE GENETICS
  • 2014-01-08. Non-conflict theories for the evolution of genomic imprinting in HEREDITY
  • 2015-04-13. Genetic conflict reflected in tissue-specific maps of genomic imprinting in human and mouse in NATURE GENETICS
  • 2001-07. The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice in NATURE GENETICS
  • 2012-10-09. Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts in MOLECULAR PSYCHIATRY
  • 2010-10-08. A phylogenetic approach to test for evidence of parental conflict or gene duplications associated with protein-encoding imprinted orthologous genes in placental mammals in MAMMALIAN GENOME
  • 2003-05. What good is genomic imprinting: the function of parent-specific gene expression in NATURE REVIEWS GENETICS
  • 2010-06-09. Functional impact of global rare copy number variation in autism spectrum disorders in NATURE
  • 2009-04-28. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes in NATURE
  • 2008-05-25. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster in NATURE GENETICS
  • 2015-12-22. Meta-analysis of RNA-seq expression data across species, tissues and studies in GENOME BIOLOGY
  • 2015-04-13. A coding-independent function of an alternative Ube3a transcript during neuronal development in NATURE NEUROSCIENCE
  • 2011-12-12. Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples in MOLECULAR AUTISM
  • 1997-01. UBE3A/E6-AP mutations cause Angelman syndrome in NATURE GENETICS
  • 2008-06-05. Analyzing real-time PCR data by the comparative CT method in NATURE PROTOCOLS
  • 2015-09-15. Differential genomic imprinting regulates paracrine and autocrine roles of IGF2 in mouse adult neurogenesis in NATURE COMMUNICATIONS
  • 2008-05-29. Evolution of the CDKN1C-KCNQ1 imprinted domain in BMC ECOLOGY AND EVOLUTION
  • 1997-01. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome in NATURE GENETICS
  • 2014-09-23. Differential regulation of non-protein coding RNAs from Prader-Willi Syndrome locus in SCIENTIFIC REPORTS
  • 2011-09-14. Mouse genomic variation and its effect on phenotypes and gene regulation in NATURE
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    http://scigraph.springernature.com/pub.10.1186/s13072-017-0134-4

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    http://dx.doi.org/10.1186/s13072-017-0134-4

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    https://app.dimensions.ai/details/publication/pub.1085379309

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/28515788


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    38 schema:description BackgroundThe ubiquitin protein E3A ligase gene (UBE3A) gene is imprinted with maternal-specific expression in neurons and biallelically expressed in all other cell types. Both loss-of-function and gain-of-function mutations affecting the dosage of UBE3A are associated with several neurodevelopmental syndromes and psychological conditions, suggesting that UBE3A is dosage-sensitive in the brain. The observation that loss of imprinting increases the dosage of UBE3A in brain further suggests that inactivation of the paternal UBE3A allele evolved as a dosage-regulating mechanism. To test this hypothesis, we examined UBE3A transcript and protein levels among cells, tissues, and species with different imprinting states of UBE3A.ResultsOverall, we found no correlation between the imprinting status and dosage of UBE3A. Importantly, we found that maternal Ube3a protein levels increase in step with decreasing paternal Ube3a protein levels during neurogenesis in mouse, fully compensating for loss of expression of the paternal Ube3a allele in neurons.ConclusionsBased on our findings, we propose that imprinting of UBE3A does not function to reduce the dosage of UBE3A in neurons but rather to regulate some other, as yet unknown, aspect of gene expression or protein function.
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