DNA methylation in satellite repeats disorders

Essays in Biochemistry
Claire Francastel, Frédérique Magdinier

Abstract

Despite the tremendous progress made in recent years in assembling the human genome, tandemly repeated DNA elements remain poorly characterized. These sequences account for the vast majority of methylated sites in the human genome and their methylated state is necessary for this repetitive DNA to function properly and to maintain genome integrity. Furthermore, recent advances highlight the emerging role of these sequences in regulating the functions of the human genome and its variability during evolution, among individuals, or in disease susceptibility. In addition, a number of inherited rare diseases are directly linked to the alteration of some of these repetitive DNA sequences, either through changes in the organization or size of the tandem repeat arrays or through mutations in genes encoding chromatin modifiers involved in the epigenetic regulation of these elements. Although largely overlooked so far in the functional annotation of the human genome, satellite elements play key roles in its architectural and topological organization. This includes functions as boundary elements delimitating functional domains or assembly of repressive nuclear compartments, with local or distal impact on gene expression. Thus, the consider...Continue Reading

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Citations

Mar 4, 2020·Genes·Valentina SalsiRossella Tupler
Jun 3, 2020·Genes·Salvatore FiorinielloFloriana Della Ragione
May 1, 2021·International Journal of Molecular Sciences·Guillaume VelascoClaire Francastel
May 27, 2021·Acta Neuropathologica Communications·Sanjog R ChintalaphaniKishore R Kumar
Nov 19, 2021·Biochemical Genetics·Meenu Ghai, Farzeen Kader

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