A palindrome in DNA is like a palindrome in language, but when read backwards, it is a complement of the forward sequence; effectively, the two halves of a sequence complement each other from its midpoint like in a double strand of DNA. Palindromes are distributed throughout the human genome and play significant roles in gene expression and regulation. Palindromic mutations are linked to many human diseases, such as neuronal disorders, mental retardation, and various cancers. In this work, we computed and analyzed the palindromic sequences in the human genome and studied their conservation in personal genomes using 1000 Genomes data. We found that ~30% of the palindromes exhibit variation, some of which are caused by rare variants. The analysis of disease/trait-associated single-nucleotide polymorphisms in palindromic regions showed that disease-associated risk variants are 14 times more likely to be present in palindromic regions than in other regions. The catalog of palindromes in the reference genome and 1000 Genomes is being made available here with details on their variations in each individual genome to serve as a resource for future and retrospective whole-genome studies identifying statistically significant palindrome variations associated with diseases or traits and their roles in disease mechanisms.

DNA中的回文就像语言中的回文，但是向后阅读时，它是正向序列的补充；实际上，序列的两半从中点开始像DNA双链一样彼此互补。回文集分布在整个人类基因组中，并在基因表达和调控中发挥重要作用。回文突变与许多人类疾病有关，例如神经元疾病，智力低下和各种癌症。在这项工作中，我们计算和分析了人类基因组中的回文序列，并使用1000个基因组数据研究了它们在个人基因组中的保守性。我们发现〜30％的回文呈现出变异，其中一些是由稀有变异引起的。对回文区中与疾病/特征相关的单核苷酸多态性的分析表明，与回文区相比，与疾病相关的风险变异出现的可能性是其他地区的14倍。此处提供了参考基因组和1000个基因组中的回文目录，并提供了每个个体基因组中的变异详细信息，可作为将来和回顾性全基因组研究的资源，以鉴定与疾病或性状及其相关的统计学意义的回文变异在疾病机制中的作用。