Center for Cellular and Molecular Biology, Council of Scientific and Industrial Research, Uppal Road, Hyderabad 500007, India.
Nat Commun. 2013;4:1844. doi: 10.1038/ncomms2872.
Simple sequence repeats (SSRs) account for ~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.
简单序列重复(SSRs)约占人类基因组的 3%,但其功能意义仍不清楚。突出的 SSR 之一是 GATA 四核苷酸重复,它在复杂生物中优先积累。GATA 重复在人类 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 GATA 重复在果蝇和人类细胞中具有增强子阻断活性。这种增强子阻断活性在不同发育阶段的转基因和天然增强子中都可以看到。这些发现赋予 SSR 功能意义,并解释了为什么 SSR,特别是 GATA,可能在复杂生物中积累。