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  Distribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7

Ebert, G., Steininger, A., Weissmann, R., Boldt, V., Lind-Thomsen, A., Grune, J., et al. (2014). Distribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7. BMC Genomics, 15, 15:537-15:537. doi:10.1186/1471-2164-15-537.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0025-0BB6-5 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0025-0BB7-3
Genre: Journal Article

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© 2014 Ebert et al.; licensee BioMed Central Ltd
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 Creators:
Ebert, Grit1, Author              
Steininger, Anne1, Author              
Weissmann, Robert2, Author              
Boldt, Vivien1, Author              
Lind-Thomsen, Allan, Author
Grune, Jana, Author
Badelt, Stefan, Author
Hessler, Melanie, Author
Peiser, Matthias, Author
Hitzler, Manuel, Author
Jensen, Lars R., Author
Müller, Ines, Author
Hu, Hao3, Author              
Arndt, Peter F.4, Author              
Kuss, Andreas W., Author
Tebel, Katrin1, Author              
Ullmann, Reinhard1, Author              
Affiliations:
1Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              
2Independent Junior Research Groups (OWL), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433554              
3Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
4Evolutionary Genomics (Peter Arndt), Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479638              

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Free keywords: Higher order chromatin organisation, Segmental duplication, Williams-Beuren syndrome, Chromosome evolution, Hi-C
 Abstract: BACKGROUND: Segmental duplications (SDs) are not evenly distributed along chromosomes. The reasons for this biased susceptibility to SD insertion are poorly understood. Accumulation of SDs is associated with increased genomic instability, which can lead to structural variants and genomic disorders such as the Williams-Beuren syndrome. Despite these adverse effects, SDs have become fixed in the human genome. Focusing on chromosome 7, which is particularly rich in interstitial SDs, we have investigated the distribution of SDs in the context of evolution and the three dimensional organisation of the chromosome in order to gain insights into the mutual relationship of SDs and chromatin topology. RESULTS: Intrachromosomal SDs preferentially accumulate in those segments of chromosome 7 that are homologous to marmoset chromosome 2. Although this formerly compact segment has been re-distributed to three different sites during primate evolution, we can show by means of public data on long distance chromatin interactions that these three intervals, and consequently the paralogous SDs mapping to them, have retained their spatial proximity in the nucleus. Focusing on SD clusters implicated in the aetiology of the Williams-Beuren syndrome locus we demonstrate by cross-species comparison that these SDs have inserted at the borders of a topological domain and that they flank regions with distinct DNA conformation. CONCLUSIONS: Our study suggests a link of nuclear architecture and the propagation of SDs across chromosome 7, either by promoting regional SD insertion or by contributing to the establishment of higher order chromatin organisation themselves. The latter could compensate for the high risk of structural rearrangements and thus may have contributed to their evolutionary fixation in the human genome.

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Language(s): eng - English
 Dates: 2014-06-292014
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: Peer
 Identifiers: DOI: 10.1186/1471-2164-15-537
ISSN: 1471-2164 (Electronic)
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Title: BMC Genomics
Source Genre: Journal
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Publ. Info: BioMed Central
Pages: - Volume / Issue: 15 Sequence Number: - Start / End Page: 15:537 - 15:537 Identifier: ISSN: 1471-2164
CoNE: /journals/resource/111000136905010