Svetec Miklenić Marina, Svetec Ivan Krešimir
Faculty of Food Technology and Biotechnology, University of Zagreb, Pierottijeva 6, 10000 Zagreb, Croatia.
Int J Mol Sci. 2021 Mar 11;22(6):2840. doi: 10.3390/ijms22062840.
A palindrome in DNA consists of two closely spaced or adjacent inverted repeats. Certain palindromes have important biological functions as parts of various cis-acting elements and protein binding sites. However, many palindromes are known as fragile sites in the genome, sites prone to chromosome breakage which can lead to various genetic rearrangements or even cell death. The ability of certain palindromes to initiate genetic recombination lies in their ability to form secondary structures in DNA which can cause replication stalling and double-strand breaks. Given their recombinogenic nature, it is not surprising that palindromes in the human genome are involved in genetic rearrangements in cancer cells as well as other known recurrent translocations and deletions associated with certain syndromes in humans. Here, we bring an overview of current understanding and knowledge on molecular mechanisms of palindrome recombinogenicity and discuss possible implications of DNA palindromes in carcinogenesis. Furthermore, we overview the data on known palindromic sequences in the human genome and efforts to estimate their number and distribution, as well as underlying mechanisms of genetic rearrangements specific palindromic sequences cause.
DNA中的回文序列由两个紧密间隔或相邻的反向重复序列组成。某些回文序列作为各种顺式作用元件和蛋白质结合位点的一部分,具有重要的生物学功能。然而,许多回文序列在基因组中被认为是脆弱位点,即容易发生染色体断裂的位点,这可能导致各种基因重排甚至细胞死亡。某些回文序列引发基因重组的能力在于它们在DNA中形成二级结构的能力,这种结构可导致复制停滞和双链断裂。鉴于其重组性质,人类基因组中的回文序列参与癌细胞中的基因重排以及与人类某些综合征相关的其他已知反复发生的易位和缺失也就不足为奇了。在此,我们概述了目前对回文序列重组性分子机制的理解和认识,并讨论了DNA回文序列在致癌作用中的可能影响。此外,我们概述了关于人类基因组中已知回文序列的数据,以及估计它们的数量和分布的努力,以及特定回文序列导致的基因重排的潜在机制。