, Volume 127, Issue 2, pp 247–259 | Cite as

Spatial organization of chromosome territories in the interphase nucleus of trisomy 21 cells

  • Stephan Kemeny
  • Christophe Tatout
  • Gaelle Salaun
  • Céline Pebrel-Richard
  • Carole Goumy
  • Natasha Ollier
  • Eugenie Maurin
  • Bruno Pereira
  • Philippe Vago
  • Laetitia GouasEmail author
Original Article


In the interphase cell nucleus, chromosomes adopt a conserved and non-random arrangement in subnuclear domains called chromosome territories (CTs). Whereas chromosome translocation can affect CT organization in tumor cell nuclei, little is known about how aneuploidies can impact CT organization. Here, we performed 3D-FISH on control and trisomic 21 nuclei to track the patterning of chromosome territories, focusing on the radial distribution of trisomic HSA21 as well as 11 disomic chromosomes. We have established an experimental design based on cultured chorionic villus cells which keep their original mesenchymal features including a characteristic ellipsoid nuclear morphology and a radial CT distribution that correlates with chromosome size. Our study suggests that in trisomy 21 nuclei, the extra HSA21 induces a shift of HSA1 and HSA3 CTs out toward a more peripheral position in nuclear space and a higher compaction of HSA1 and HSA17 CTs. We posit that the presence of a supernumerary chromosome 21 alters chromosome compaction and results in displacement of other chromosome territories from their usual nuclear position.


Chromosome territory Nuclear architecture Radial arrangement Trisomy 21 3D-FISH 



The authors thank C. Vachias and P. Pouchin of the Imagerie Confocale de Clermont-Ferrand platform (ICCF) for their technical help in confocal analysis. We also thank A.T.T (Auvergne Traduction Technique) for proofreading the manuscript. This research did not receive any specific grants from funding agencies in the public, commercial, or not-for-profit sectors.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

All biological samples came from a collection declared with the French Ministry of Research and Higher Education (#CODECOH: DC2008-558). Analysis of human samples was performed in accordance with French Bioethics Law (#2011-814). This study is compliant with the principles of the Declaration of Helsinki. This article does not contain any studies with human participants or animals performed by any of the authors.


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2017

Authors and Affiliations

  • Stephan Kemeny
    • 1
    • 2
  • Christophe Tatout
    • 3
  • Gaelle Salaun
    • 1
    • 2
  • Céline Pebrel-Richard
    • 1
    • 2
  • Carole Goumy
    • 1
    • 2
  • Natasha Ollier
    • 1
    • 2
  • Eugenie Maurin
    • 1
    • 2
  • Bruno Pereira
    • 4
  • Philippe Vago
    • 1
    • 2
  • Laetitia Gouas
    • 1
    • 2
    Email author
  1. 1.ERTICA EA 4677Université Clermont AuvergneClermont-FerrandFrance
  2. 2.Service de Cytogénétique MédicaleCHU Estaing, Cytogénétique MédicaleClermont-FerrandFrance
  3. 3.Université Clermont Auvergne, UMR CNRS 6293, INSERM U 1103Laboratoire de Génétique Reproduction et DéveloppementClermont-FerrandFrance
  4. 4.CHU Clermont-FerrandDélégation à la Recherche Clinique et à l’InnovationClermont-FerrandFrance

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