Relationships between genomic dissipation and de novo SNP evolution

PLoS One. 2024 May 16;19(5):e0303257. doi: 10.1371/journal.pone.0303257. eCollection 2024.

Abstract

Patterns of single nucleotide polymorphisms (SNPs) in eukaryotic DNA are traditionally attributed to selective pressure, drift, identity descent, or related factors-without accounting for ways in which bias during de novo SNP formation, itself, might contribute. A functional and phenotypic analysis based on evolutionary resilience of DNA points to decreased numbers of non-synonymous SNPs in human and other genomes, with a predominant component of SNP depletion in the human gene pool caused by robust preferences during de novo SNP formation (rather than selective constraint). Ramifications of these findings are broad, belie a number of concepts regarding human evolution, and point to a novel interpretation of evolving DNA across diverse species.

MeSH terms

  • Animals
  • Evolution, Molecular*
  • Genome / genetics
  • Genome, Human
  • Genomics / methods
  • Humans
  • Polymorphism, Single Nucleotide*

Grants and funding

The author(s) received no specific funding for this work.