---
_id: '9188'
abstract:
- lang: eng
  text: Genomic imprinting is an epigenetic mechanism that results in parental allele-specific
    expression of ~1% of all genes in mouse and human. Imprinted genes are key developmental
    regulators and play pivotal roles in many biological processes such as nutrient
    transfer from the mother to offspring and neuronal development. Imprinted genes
    are also involved in human disease, including neurodevelopmental disorders, and
    often occur in clusters that are regulated by a common imprint control region
    (ICR). In extra-embryonic tissues ICRs can act over large distances, with the
    largest surrounding Igf2r spanning over 10 million base-pairs. Besides classical
    imprinted expression that shows near exclusive maternal or paternal expression,
    widespread biased imprinted expression has been identified mainly in brain. In
    this review we discuss recent developments mapping cell type specific imprinted
    expression in extra-embryonic tissues and neocortex in the mouse. We highlight
    the advantages of using an inducible uniparental chromosome disomy (UPD) system
    to generate cells carrying either two maternal or two paternal copies of a specific
    chromosome to analyze the functional consequences of genomic imprinting. Mosaic
    Analysis with Double Markers (MADM) allows fluorescent labeling and concomitant
    induction of UPD sparsely in specific cell types, and thus to over-express or
    suppress all imprinted genes on that chromosome. To illustrate the utility of
    this technique, we explain how MADM-induced UPD revealed new insights about the
    function of the well-studied Cdkn1c imprinted gene, and how MADM-induced UPDs
    led to identification of highly cell type specific phenotypes related to perturbed
    imprinted expression in the mouse neocortex. Finally, we give an outlook on how
    MADM could be used to probe cell type specific imprinted expression in other tissues
    in mouse, particularly in extra-embryonic tissues.
acknowledgement: We thank Melissa Stouffer for critically reading the manuscript.
  This work was supported by IST Austria institutional funds; NÖ Forschung und Bildung
  n[f + b] life science call grant (C13-002) to S.H. and the European Research Council
  (ERC) under the European Union's Horizon 2020 research and innovation program (grant
  agreement 725780 LinPro) to S.H.
article_number: '104986'
article_processing_charge: Yes (via OA deal)
article_type: original
author:
- first_name: Florian
  full_name: Pauler, Florian
  id: 48EA0138-F248-11E8-B48F-1D18A9856A87
  last_name: Pauler
- first_name: Quanah
  full_name: Hudson, Quanah
  last_name: Hudson
- first_name: Susanne
  full_name: Laukoter, Susanne
  id: 2D6B7A9A-F248-11E8-B48F-1D18A9856A87
  last_name: Laukoter
- first_name: Simon
  full_name: Hippenmeyer, Simon
  id: 37B36620-F248-11E8-B48F-1D18A9856A87
  last_name: Hippenmeyer
  orcid: 0000-0003-2279-1061
citation:
  ama: Pauler F, Hudson Q, Laukoter S, Hippenmeyer S. Inducible uniparental chromosome
    disomy to probe genomic imprinting at single-cell level in brain and beyond. <i>Neurochemistry
    International</i>. 2021;145(5). doi:<a href="https://doi.org/10.1016/j.neuint.2021.104986">10.1016/j.neuint.2021.104986</a>
  apa: Pauler, F., Hudson, Q., Laukoter, S., &#38; Hippenmeyer, S. (2021). Inducible
    uniparental chromosome disomy to probe genomic imprinting at single-cell level
    in brain and beyond. <i>Neurochemistry International</i>. Elsevier. <a href="https://doi.org/10.1016/j.neuint.2021.104986">https://doi.org/10.1016/j.neuint.2021.104986</a>
  chicago: Pauler, Florian, Quanah Hudson, Susanne Laukoter, and Simon Hippenmeyer.
    “Inducible Uniparental Chromosome Disomy to Probe Genomic Imprinting at Single-Cell
    Level in Brain and Beyond.” <i>Neurochemistry International</i>. Elsevier, 2021.
    <a href="https://doi.org/10.1016/j.neuint.2021.104986">https://doi.org/10.1016/j.neuint.2021.104986</a>.
  ieee: F. Pauler, Q. Hudson, S. Laukoter, and S. Hippenmeyer, “Inducible uniparental
    chromosome disomy to probe genomic imprinting at single-cell level in brain and
    beyond,” <i>Neurochemistry International</i>, vol. 145, no. 5. Elsevier, 2021.
  ista: Pauler F, Hudson Q, Laukoter S, Hippenmeyer S. 2021. Inducible uniparental
    chromosome disomy to probe genomic imprinting at single-cell level in brain and
    beyond. Neurochemistry International. 145(5), 104986.
  mla: Pauler, Florian, et al. “Inducible Uniparental Chromosome Disomy to Probe Genomic
    Imprinting at Single-Cell Level in Brain and Beyond.” <i>Neurochemistry International</i>,
    vol. 145, no. 5, 104986, Elsevier, 2021, doi:<a href="https://doi.org/10.1016/j.neuint.2021.104986">10.1016/j.neuint.2021.104986</a>.
  short: F. Pauler, Q. Hudson, S. Laukoter, S. Hippenmeyer, Neurochemistry International
    145 (2021).
date_created: 2021-02-23T12:31:43Z
date_published: 2021-05-01T00:00:00Z
date_updated: 2023-08-07T13:48:26Z
day: '01'
ddc:
- '570'
department:
- _id: SiHi
doi: 10.1016/j.neuint.2021.104986
ec_funded: 1
external_id:
  isi:
  - '000635575000005'
  pmid:
  - '33600873'
file:
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  creator: kschuh
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  date_updated: 2021-08-11T12:30:38Z
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has_accepted_license: '1'
intvolume: '       145'
isi: 1
issue: '5'
keyword:
- Cell Biology
- Cellular and Molecular Neuroscience
language:
- iso: eng
month: '05'
oa: 1
oa_version: Published Version
pmid: 1
project:
- _id: 260018B0-B435-11E9-9278-68D0E5697425
  call_identifier: H2020
  grant_number: '725780'
  name: Principles of Neural Stem Cell Lineage Progression in Cerebral Cortex Development
- _id: 25D92700-B435-11E9-9278-68D0E5697425
  grant_number: LS13-002
  name: Mapping Cell-Type Specificity of the Genomic Imprintome in the Brain
publication: Neurochemistry International
publication_identifier:
  issn:
  - 0197-0186
publication_status: published
publisher: Elsevier
quality_controlled: '1'
scopus_import: '1'
status: public
title: Inducible uniparental chromosome disomy to probe genomic imprinting at single-cell
  level in brain and beyond
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  legal_code_url: https://creativecommons.org/licenses/by-nc-nd/4.0/legalcode
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...
---
_id: '3462'
article_processing_charge: No
article_type: original
author:
- first_name: Thorsten
  full_name: Melcher, Thorsten
  last_name: Melcher
- first_name: Jörg
  full_name: Geiger, Jörg
  last_name: Geiger
- first_name: Peter M
  full_name: Jonas, Peter M
  id: 353C1B58-F248-11E8-B48F-1D18A9856A87
  last_name: Jonas
  orcid: 0000-0001-5001-4804
- first_name: Hannah
  full_name: Monyer, Hannah
  last_name: Monyer
citation:
  ama: Melcher T, Geiger J, Jonas PM, Monyer H. Analysis of molecular determinants
    in native AMPA receptors. <i>Neurochemistry International</i>. 1996;28(2):141-144.
    doi:<a href="https://doi.org/10.1016/0197-0186(95)00077-1">10.1016/0197-0186(95)00077-1</a>
  apa: Melcher, T., Geiger, J., Jonas, P. M., &#38; Monyer, H. (1996). Analysis of
    molecular determinants in native AMPA receptors. <i>Neurochemistry International</i>.
    Elsevier. <a href="https://doi.org/10.1016/0197-0186(95)00077-1">https://doi.org/10.1016/0197-0186(95)00077-1</a>
  chicago: Melcher, Thorsten, Jörg Geiger, Peter M Jonas, and Hannah Monyer. “Analysis
    of Molecular Determinants in Native AMPA Receptors.” <i>Neurochemistry International</i>.
    Elsevier, 1996. <a href="https://doi.org/10.1016/0197-0186(95)00077-1">https://doi.org/10.1016/0197-0186(95)00077-1</a>.
  ieee: T. Melcher, J. Geiger, P. M. Jonas, and H. Monyer, “Analysis of molecular
    determinants in native AMPA receptors,” <i>Neurochemistry International</i>, vol.
    28, no. 2. Elsevier, pp. 141–144, 1996.
  ista: Melcher T, Geiger J, Jonas PM, Monyer H. 1996. Analysis of molecular determinants
    in native AMPA receptors. Neurochemistry International. 28(2), 141–144.
  mla: Melcher, Thorsten, et al. “Analysis of Molecular Determinants in Native AMPA
    Receptors.” <i>Neurochemistry International</i>, vol. 28, no. 2, Elsevier, 1996,
    pp. 141–44, doi:<a href="https://doi.org/10.1016/0197-0186(95)00077-1">10.1016/0197-0186(95)00077-1</a>.
  short: T. Melcher, J. Geiger, P.M. Jonas, H. Monyer, Neurochemistry International
    28 (1996) 141–144.
date_created: 2018-12-11T12:03:27Z
date_published: 1996-02-01T00:00:00Z
date_updated: 2022-08-11T09:42:29Z
day: '01'
doi: 10.1016/0197-0186(95)00077-1
extern: '1'
external_id:
  pmid:
  - '8719701 '
intvolume: '        28'
issue: '2'
language:
- iso: eng
month: '02'
oa_version: None
page: 141 - 144
pmid: 1
publication: Neurochemistry International
publication_identifier:
  issn:
  - 0197-0186
publication_status: published
publisher: Elsevier
publist_id: '2925'
quality_controlled: '1'
scopus_import: '1'
status: public
title: Analysis of molecular determinants in native AMPA receptors
type: journal_article
user_id: ea97e931-d5af-11eb-85d4-e6957dddbf17
volume: 28
year: '1996'
...