A reference catalog of DNA palindromes in the human genome and their variations in 1000 Genomes.

ABSTRACT: 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

SUBMITTER: Ganapathiraju MK 

PROVIDER: S-EPMC7680136 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature