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Functions of Noncoding Sequences in Mammalian Genomes

机译：非编码序列在哺乳动物基因组中的功能

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摘要

Most of the mammalian genome consists of nucleotide sequences not coding for proteins. Exons of genes make up only 3% of the human genome, while the significance of most other sequences remains unknown. Recent genome studies with high-throughput methods demonstrate that the so-called noncoding part of the genome may perform important functions. This hypothesis is supported by three groups of experimental data: 1) approximately 10% of the sequences, most of which are located in noncoding parts of the genome, is evolutionarily conserved and thus can be of functional importance; 2) up to 99% of the mammalian genome is being transcribed forming short and long noncoding RNAs in addition to common mRNA; and 3) mutations in noncoding parts of the genome can be accompanied by progression of pathological states of the organism. In the light of these data, in the review we consider the functional role of numerous known sequences of noncoding parts of the genome including introns, DNA methylation regions, enhancers and locus control regions, insulators, S/MAR sequences, pseudogenes, and genes of noncoding RNAs, as well as transposons and simple repeats of centromeric and telomeric regions of chromosomes. The assumption is made that the intergenic noncoding sequences without definite/clear functions can be involved in spatial organization of genetic loci in interphase nuclei.
机译：大部分哺乳动物基因组由不编码蛋白质的核苷酸序列组成。基因的外显子仅占人类基因组的3％，而大多数其他序列的重要性仍然未知。最近使用高通量方法进行的基因组研究表明，基因组的所谓非编码部分可能发挥重要作用。这一假设得到三组实验数据的支持：1）大约10％的序列在进化上是保守的，因此在功能上很重要;这些序列大多数位于基因组的非编码部分中; 2）转录多达99％的哺乳动物基因组，除了常见的mRNA外，还形成长短的非编码RNA。 3）基因组非编码部分的突变可能伴随着生物体病理状态的发展。根据这些数据，在综述中，我们考虑了基因组非编码部分的许多已知序列的功能作用，包括内含子，DNA甲基化区域，增强子和基因座控制区域，绝缘子，S / MAR序列，假基因和非编码RNA，以及染色体的着丝粒和端粒区域的转座子和简单重复。假设没有明确/明确功能的基因间非编码序列可能参与相间核中遗传基因座的空间组织。

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