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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.<\/jats:p><jats:p>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 consideration of satellite repeats organization and their associated epigenetic landmarks, including DNA methylation (DNAme), will become unavoidable in the near future to fully decipher human phenotypes and associated diseases.<\/jats:p>","DOI":"10.1042\/ebc20190028","type":"journal-article","created":{"date-parts":[[2019,8,6]],"date-time":"2019-08-06T15:45:12Z","timestamp":1565106312000},"page":"757-771","update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["DNA methylation in satellite repeats disorders"],"prefix":"10.1042","volume":"63","author":[{"given":"Claire","family":"Francastel","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Paris, Epig\u00e9n\u00e9tique et Destin Cellulaire, CNRS, Paris F-75013, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0159-9559","authenticated-orcid":false,"given":"Fr\u00e9d\u00e9rique","family":"Magdinier","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, INSERM, MMG, Marseille Medical Genetics, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"288","published-online":{"date-parts":[[2019,8,6]]},"reference":[{"key":"2021111610280805000_B1","doi-asserted-by":"publisher","first-page":"860","DOI":"10.1038\/35057062","article-title":"Initial sequencing and analysis of the human genome","volume":"409","author":"Lander","year":"2001","journal-title":"Nature"},{"key":"2021111610280805000_B2","doi-asserted-by":"publisher","first-page":"477","DOI":"10.1016\/0022-2836(85)90234-7","article-title":"Isolation and characterization of an alphoid centromeric repeat family from the human Y chromosome","volume":"182","author":"Wolfe","year":"1985","journal-title":"J. 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