Grover Deepak, Kannan K, Brahmachari Samir K, Mukerji Mitali
Functional Genomics Unit, Institute of Genomics and Integrative Biology, Mall Road, Delhi, India.
Genetica. 2005 Jul;124(2-3):273-89. doi: 10.1007/s10709-005-3086-8.
Elucidation of complete nucleotide sequence of the human has revealed that coding sequences that store the information needed to synthesize functional proteins, occupy only 2% of the genomic region. The remaining 98%, barring few regulatory sequences, has been referred to as non-functional or junk DNA and consists of many kinds of repeat elements. In fact, human genome is the most repeat rich genome sequenced so far, in which more than half of the region is occupied by such sequences. Determination of significance of these repeats in the human genome has become the focus of many studies all over the world, especially after genome sequencing did not reveal any significant difference in coding regions between lower eukaryotes and human. In this article, we have focused on Alu repeats that are primate specific elements with many interesting biological properties. Moreover, these are the repeats with highest copy number in the human genome. We have highlighted different facets of their interaction with the genome and changing paradigms regarding their role in genome organization.
人类完整核苷酸序列的阐明表明，储存合成功能性蛋白质所需信息的编码序列仅占基因组区域的2%。其余98%，除了少数调控序列外，被称为非功能性或垃圾DNA，由多种重复元件组成。事实上，人类基因组是迄今为止测序的重复序列最丰富的基因组，其中一半以上的区域被此类序列占据。确定这些重复序列在人类基因组中的意义已成为全球许多研究的焦点，尤其是在基因组测序未揭示低等真核生物和人类编码区域有任何显著差异之后。在本文中，我们重点关注了Alu重复序列，它们是具有许多有趣生物学特性的灵长类特异性元件。此外，这些是人类基因组中拷贝数最高的重复序列。我们强调了它们与基因组相互作用的不同方面以及关于它们在基因组组织中作用的不断变化的范式。
