GATA simple sequence repeats function as enhancer blocker boundaries

GATA simple sequence repeats function as enhancer blocker boundaries
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DOI:
10.1038/ncomms2872
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发表时间:
2013-05-01
影响因子:
16.6
通讯作者:
Mishra, Rakesh K.
Mishra, Rakesh K.
中科院分区:
综合性期刊1区
文献类型:
--
作者:
Kumar, Ram P.;Krishnan, Jaya;Mishra, Rakesh K.

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简单重复序列(SSR)约占人类基因组的3%,但其功能意义仍不清楚。加塔四核苷酸重复序列是重要的SSR之一,在复杂生物体中优先积累。加塔重复序列在人类Y染色体上特别丰富,它们的非随机分布和与早期发育过程中表达的基因的排他性关联表明它们在协调基因调控中的作用。在这里,我们表明,加塔重复在果蝇和人类细胞中具有增强子阻断剂活性。这种增强子阻断剂活性在不同发育阶段的增强子的转基因和天然背景中可见。这些发现赋予功能的意义,SSR和提供一个解释,为什么SSR,特别是加塔,可能已经积累在复杂的生物体。
Simple sequence repeats (SSRs) account for similar to 3% of the human genome, but their functional significance still remains unclear. One of the prominent SSRs the GATA tetranucleotide repeat has preferentially accumulated in complex organisms. GATA repeats are particularly enriched on the human Y chromosome, and their non-random distribution and exclusive association with genes expressed during early development indicate their role in coordinated gene regulation. Here we show that GATA repeats have enhancer blocker activity in Drosophila and human cells. This enhancer blocker activity is seen in transgenic as well as native context of the enhancers at various developmental stages. These findings ascribe functional significance to SSRs and offer an explanation as to why SSRs, especially GATA, may have accumulated in complex organisms.