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Status: Bibliographieeintrag

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Verfasst von:Stuhlmueller, Michael [VerfasserIn]   i
 Schwarz-Finsterle, Jutta [VerfasserIn]   i
 Fey, Evelyn [VerfasserIn]   i
 Lux, Johannes Thomas [VerfasserIn]   i
 Bach, Margund [VerfasserIn]   i
 Cremer, Christoph [VerfasserIn]   i
 Hinderhofer, Katrin [VerfasserIn]   i
 Hausmann, Michael [VerfasserIn]   i
 Hildenbrand, Georg Lars [VerfasserIn]   i
Titel:In situ optical sequencing and structure analysis of a trinucleotide repeat genome region by localization microscopy after specific COMBO-FISH nano-probing
Verf.angabe:M. Stuhlmüller, J. Schwarz-Finsterle, E. Fey, J. Lux, M. Bach, C. Cremer, K. Hinderhofer, M. Hausmann and G. Hildenbrand
Jahr:2015
Umfang:9 S.
Fussnoten:Gesehen am 26.11.2018
Titel Quelle:Enthalten in: Nanoscale
Ort Quelle:Cambridge : RSC Publ., 2009
Jahr Quelle:2015
Band/Heft Quelle:7(2015), 42, Seite 17938-17946
ISSN Quelle:2040-3372
Abstract:Trinucleotide repeat expansions (like (CGG)n) of chromatin in the genome of cell nuclei can cause neurological disorders such as for example the Fragile-X syndrome. Until now the mechanisms are not clearly understood as to how these expansions develop during cell proliferation. Therefore in situ investigations of chromatin structures on the nanoscale are required to better understand supra-molecular mechanisms on the single cell level. By super-resolution localization microscopy (Spectral Position Determination Microscopy; SPDM) in combination with nano-probing using COMBO-FISH (COMBinatorial Oligonucleotide FISH), novel insights into the nano-architecture of the genome will become possible. The native spatial structure of trinucleotide repeat expansion genome regions was analysed and optical sequencing of repetitive units was performed within 3D-conserved nuclei using SPDM after COMBO-FISH. We analysed a (CGG)n-expansion region inside the 5′ untranslated region of the FMR1 gene. The number of CGG repeats for a full mutation causing the Fragile-X syndrome was found and also verified by Southern blot. The FMR1 promotor region was similarly condensed like a centromeric region whereas the arrangement of the probes labelling the expansion region seemed to indicate a loop-like nano-structure. These results for the first time demonstrate that in situ chromatin structure measurements on the nanoscale are feasible. Due to further methodological progress it will become possible to estimate the state of trinucleotide repeat mutations in detail and to determine the associated chromatin strand structural changes on the single cell level. In general, the application of the described approach to any genome region will lead to new insights into genome nano-architecture and open new avenues for understanding mechanisms and their relevance in the development of heredity diseases.
DOI:doi:10.1039/C5NR04141D
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

Volltext: http://dx.doi.org/10.1039/C5NR04141D
 Volltext: http://pubs.rsc.org/en/content/articlelanding/2015/nr/c5nr04141d
 DOI: https://doi.org/10.1039/C5NR04141D
Datenträger:Online-Ressource
Sprache:eng
K10plus-PPN:1584432780
Verknüpfungen:→ Zeitschrift

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