dc.contributor.author |
Dumbovic, Gabrijela |
dc.contributor.author |
Forcales, Sònia Vanina |
dc.contributor.author |
Perucho, Manuel |
dc.contributor.author |
Universitat Autònoma de Barcelona |
dc.date |
2017 |
dc.identifier |
https://ddd.uab.cat/record/196498 |
dc.identifier |
urn:10.1080/15592294.2017.1318235 |
dc.identifier |
urn:oai:ddd.uab.cat:196498 |
dc.identifier |
urn:pmid:28426282 |
dc.identifier |
urn:scopus_id:85020750013 |
dc.identifier |
urn:wos_id:000408843800002 |
dc.identifier |
urn:altmetric_id:19228862 |
dc.identifier |
urn:articleid:15592308v12n7p515 |
dc.identifier |
urn:pmc-uid:5687341 |
dc.identifier |
urn:pmcid:PMC5687341 |
dc.identifier |
urn:oai:pubmedcentral.nih.gov:5687341 |
dc.format |
application/pdf |
dc.language |
eng |
dc.publisher |
|
dc.relation |
Instituto de Salud Carlos III FIS/PI09/02444 |
dc.relation |
Instituto de Salud Carlos III FIS/PI12/00511 |
dc.relation |
Instituto de Salud Carlos III FIS/PI15/01763 |
dc.relation |
Agència de Gestió d'Ajuts Universitaris i de Recerca 2014-SGR-1269 |
dc.relation |
Ministerio de Economía y Competitividad PIE16-00011 |
dc.relation |
Ministerio de Educación y Ciencia FPU12/06605 |
dc.relation |
Epigenetics ; Vol. 12 Núm. 7 (2017), p. 515-526 |
dc.rights |
open access |
dc.rights |
Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades. |
dc.rights |
https://creativecommons.org/licenses/by-nc-nd/4.0/ |
dc.subject |
DNA repeats |
dc.subject |
Epigenetics 1559-2308 |
dc.subject |
Genome organization |
dc.subject |
Macrosatellite repeats |
dc.subject |
Noncoding genome |
dc.title |
Emerging roles of macrosatellite repeats in genome organization and disease development |
dc.type |
Article de revisió |
dc.type |
Article |
dc.description.abstract |
Altres ajuts: Fundación Olga Torres |
dc.description.abstract |
Abundant repetitive DNA sequences are an enigmatic part of the human genome. Despite increasing evidence on the functionality of DNA repeats, their biologic role is still elusive and under frequent debate. Macrosatellites are the largest of the tandem DNA repeats, located on one or multiple chromosomes. The contribution of macrosatellites to genome regulation and human health was demonstrated for the D4Z4 macrosatellite repeat array on chromosome 4q35. Reduced copy number of D4Z4 repeats is associated with local euchromatinization and the onset of facioscapulohumeral muscular dystrophy. Although the role other macrosatellite families may play remains rather obscure, their diverse functionalities within the genome are being gradually revealed. In this review, we will outline structural and functional features of coding and noncoding macrosatellite repeats, and highlight recent findings that bring these sequences into the spotlight of genome organization and disease development. |