Kretova O V, Fedoseeva D M, Kravatsky Y V, Alembekov I R, Slovohotov I Y, Tchurikov N A
Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, 119991 Russia.
Mol Biol (Mosk). 2019 Mar-Apr;53(2):268-273. doi: 10.1134/S0026898419020083.
Many human genes that control human embryonic development and differentiation of human cells form chromosomal contact with rRNA gene clusters, which are involved in the epigenetic regulation of many genes. The sites of rRNA gene contact often fall on extended (up to 50 kb) regions containing a chromatin mark, H3K27ac histone, typical for superenhancers, as well as on pericentromeric and subtelomeric regions of chromosomes. We found that the DUX4 genes located in the subtelomeric region of human chromosome 4 are surrounded by regions that are often in contact with the rRNA genes. The 25 kb region of this chromosome, presented in version hg19 of the sequenced human genome, contains several copies of the DUX4 gene. The sites of rRNA gene contacts located around this region contain methylation sites as well as CTCF binding sites. It is assumed that the rRNA gene contacts are important in silencing these DUX4 gene copies.
许多控制人类胚胎发育和人类细胞分化的人类基因与rRNA基因簇形成染色体接触，rRNA基因簇参与许多基因的表观遗传调控。rRNA基因接触位点通常落在包含染色质标记H3K27ac组蛋白的延伸区域（长达50 kb），这是超级增强子的典型特征，也落在染色体的着丝粒周围和亚端粒区域。我们发现位于人类4号染色体亚端粒区域的DUX4基因被经常与rRNA基因接触的区域所包围。在已测序的人类基因组hg19版本中呈现的这条染色体的25 kb区域包含多个DUX4基因拷贝。位于该区域周围的rRNA基因接触位点包含甲基化位点以及CTCF结合位点。据推测，rRNA基因接触在沉默这些DUX4基因拷贝中很重要。
