A high-resolution map of human evolutionary constraint using 29 mammals

Nature. 2011 Oct 12;478(7370):476-82. doi: 10.1038/nature10530.

Abstract

The comparison of related genomes has emerged as a powerful lens for genome interpretation. Here we report the sequencing and comparative analysis of 29 eutherian genomes. We confirm that at least 5.5% of the human genome has undergone purifying selection, and locate constrained elements covering ∼4.2% of the genome. We use evolutionary signatures and comparisons with experimental data sets to suggest candidate functions for ∼60% of constrained bases. These elements reveal a small number of new coding exons, candidate stop codon readthrough events and over 10,000 regions of overlapping synonymous constraint within protein-coding exons. We find 220 candidate RNA structural families, and nearly a million elements overlapping potential promoter, enhancer and insulator regions. We report specific amino acid residues that have undergone positive selection, 280,000 non-coding elements exapted from mobile elements and more than 1,000 primate- and human-accelerated elements. Overlap with disease-associated variants indicates that our findings will be relevant for studies of human biology, health and disease.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Animals
  • Disease
  • Evolution, Molecular*
  • Exons / genetics
  • Genome / genetics*
  • Genome, Human / genetics*
  • Genomics
  • Health
  • Humans
  • Mammals / genetics*
  • Molecular Sequence Annotation
  • Phylogeny
  • RNA / classification
  • RNA / genetics
  • Selection, Genetic / genetics
  • Sequence Alignment
  • Sequence Analysis, DNA

Substances

  • RNA