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Master Thesis

Étude des « Topologically Associated Domains (TADs) » dans les anomalies du développement

Abstract : The study of tridimensional organization of chromatin by Hi-C technology, derived from Chromosome Conformation Capture (3C), revealed chromatin domains named Topologically Associated Domains (TADs). Alterations of TADs can lead to several developmental defects. The interpretation of array Comparative Genomic Hybridization (array-CGH) used in routine for diagnosis of developmental defects can be difficult, with many Copy Number Variations (CNVs) of unknown significance. However, the effect of these CNVs on TADs has only recently been taken into account for this interpretation. During this work, 735 CNVs detected by array-CGH and initially considered of unknown significance have been reanalyzed, to determine if they can alter the TADs organization. Furthermore, a 3C protocol has been developed. The new interpretation has been performed using public data of Hi-C, epigenetic marks of the ENCODE project, and enhancers databases. This study found a possible alteration of TADs on 7 patients. The yield of this analyze (7/735), is similar to another study, and highlights that the disruption of TADs is probably an uncommon pathophysiological mechanism. Furthermore, the technical limits of array-CGH and public databases annotations are a barrier to the interpretation of the CNVs effect on TADs. If the study of TADs for diagnostic purpose is possible nowadays, especially on well-characterized locus, it is still a complex study, with the need of confirmation with in vitro techniques, such as 3C derived technologies.
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Master Thesis
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Contributor : Bu Carreire Université de Bordeaux <>
Submitted on : Friday, November 3, 2017 - 6:08:14 PM
Last modification on : Thursday, December 7, 2017 - 1:16:13 AM
Long-term archiving on: : Sunday, February 4, 2018 - 2:38:19 PM


  • HAL Id : dumas-01628629, version 1



Aurelien Trimouille. Étude des « Topologically Associated Domains (TADs) » dans les anomalies du développement . Médecine humaine et pathologie. 2017. ⟨dumas-01628629⟩



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