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大卫星重复序列在基因组组织和疾病发展中的新作用。

Emerging roles of macrosatellite repeats in genome organization and disease development.

作者信息

Dumbovic Gabrijela, Forcales Sonia-V, Perucho Manuel

机构信息

a Program of Predictive and Personalized Medicine of Cancer (PMPPC) , Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol (IGTP) , Campus Can Ruti, Badalona, Barcelona , Spain.

b Sanford-Burnham-Prebys Medical Discovery Institute (SBP) , La Jolla , CA , USA.

出版信息

Epigenetics. 2017 Jul 3;12(7):515-526. doi: 10.1080/15592294.2017.1318235. Epub 2017 Apr 20.

DOI:10.1080/15592294.2017.1318235
PMID:28426282
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5687341/
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.

摘要

大量的重复DNA序列是人类基因组中一个神秘的部分。尽管越来越多的证据表明DNA重复序列具有功能，但其生物学作用仍然难以捉摸，且经常引发争论。大卫星是串联DNA重复序列中最大的一种，位于一条或多条染色体上。4号染色体q35区域的D4Z4大卫星重复序列阵列已证明大卫星对基因组调控和人类健康的作用。D4Z4重复序列的拷贝数减少与局部常染色质化以及面肩肱型肌营养不良的发病有关。尽管其他大卫星家族可能发挥的作用仍相当模糊，但它们在基因组中的多种功能正逐渐被揭示。在这篇综述中，我们将概述编码和非编码大卫星重复序列的结构和功能特征，并重点介绍最近的研究发现，这些发现使这些序列成为基因组组织和疾病发展研究的焦点。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13eb/5687341/6d463a3b69bd/kepi-12-07-1318235-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13eb/5687341/6a2fad0d0f41/kepi-12-07-1318235-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13eb/5687341/b56ee8848528/kepi-12-07-1318235-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13eb/5687341/94804446e76a/kepi-12-07-1318235-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13eb/5687341/6d463a3b69bd/kepi-12-07-1318235-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13eb/5687341/6a2fad0d0f41/kepi-12-07-1318235-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13eb/5687341/b56ee8848528/kepi-12-07-1318235-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13eb/5687341/94804446e76a/kepi-12-07-1318235-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13eb/5687341/6d463a3b69bd/kepi-12-07-1318235-g004.jpg

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