The topography of nullomer-emerging mutations and their relevance to human disease.

ABSTRACT: Nullomers are short DNA sequences (11-18 base pairs) that are absent from a genome; however, they can emerge due to mutations. Here, we characterize all possible putative human nullomer-emerging single base pair mutations, population variants and disease-causing mutations. We find that the primary determinants of nullomer emergence in the human genome are the presence of CpG dinucleotides and methylated cytosines. Putative nullomer-emerging mutations are enriched at specific genomic elements, including transcription start and end sites, splice sites and transcription factor binding sites. We also observe that putative nullomer-emerging mutations are more frequent in highly conserved regions and show preferential location at nucleosomes. Among repeat elements, Alu repeats exhibit pronounced

SUBMITTER: Chan CSY 

PROVIDER: S-EPMC11745800 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature