Emerging roles of macrosatellite repeats in genome organization and disease development
Por:
Dumbovic, G, Forcales, SV and Perucho, M
Publicada:
1 ene 2017
Resumen:
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.
Filiaciones:
Dumbovic, G:
Inst Invest Ciencies Salut Germans Trias & Pujol, Program Predict & Personalized Med Canc PMPPC, Campus Can Ruti, Barcelona, Spain
:
Inst Invest Ciencies Salut Germans Trias & Pujol, Program Predict & Personalized Med Canc PMPPC, Campus Can Ruti, Barcelona, Spain
:
Inst Invest Ciencies Salut Germans Trias & Pujol, Program Predict & Personalized Med Canc PMPPC, Campus Can Ruti, Barcelona, Spain
Sanford Burnham Prebys Med Discovery Inst SBP, La Jolla, CA 92037 USA
hybrid, Green Published
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