Distribution and characterization of regulatory elements in the human genome
Distribution and characterization of regulatory elements in the human genome
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DOI：
10.1101/gr.606402
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发表时间：
2002-12-01
期刊：
影响因子：
7
通讯作者：
Ott, J
中科院分区：
文献类型：
--
作者：
Majewski, J;Ott, J
转录调控和随后的基因剪接对正确的基因表达至关重要。虽然参与这两个过程的调控序列是已知的，但尚不清楚它们在基因组背景下的功能有多普遍，也不清楚调控区域如何分布在整个基因组中。在这里，我们研究了已知的诱变元件在人类内含子和外显子内的分布，以推断剪接和转录所必需的区域的性质。我们发现，内含子剪接调节子一般被发现接近剪接位点，但可能会发现远至200个核苷酸远离剪接点。类似地，对于剪接重要的序列可以位于外显子内，距离接合点远至125个核苷酸。我们表征了几种类型的简单重复序列和低复杂性区域，这些区域在两个内含子末端附近被过度表达，并且可能在剪接过程中发挥重要作用。我们发现，大多数基因内的第一内含子发挥特别重要的调节作用，这是最有可能的，但是，参与转录控制。我们还研究了两个已知的调控基序，GGG三核苷酸和CpG二核苷酸的分布，并推导出它们各自的重要性剪接和转录调控。
The regulation of transcription and subsequent gene splicing are crucial to correct gene expression. Although a number of regulatory sequences involved in both processes are known, it is not clear how general their functions are in the genomic context, nor how the regulatory regions are distributed throughout the genome. Here we study the distribution of known mutagenic elements within human introns and exons to deduce the properties of regions essential for splicing and transcription. We show that intronic splicing regulators are generally found close to the splice sites, but may be found as far as 200 nucleotides away from the splice junctions. Similarly, sequences important for splicing may be located as far as 125 nucleotides away from the junctions, within exons. We characterize several types of simple repetitive sequences and low-complexity regions that are overrepresented close to both intron ends and are likely to play important roles in the splicing process. We show that the first introns within most genes play a particularly important regulatory role that is most likely, however, to be involved in transcription control. We also study the distribution of two known regulatory motifs, the GGG trinucleotide and the CpG dinucleotide, and deduce their respective importance to splicing and transcription regulation.