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

Research output: Contribution to journalJournal articleResearchpeer-review

  • Kerstin Lindblad-Toh
  • Manuel Garber
  • Or Zuk
  • Michael F Lin
  • Brian J Parker
  • Gregory Jordan
  • Evan Mauceli
  • Lucas D Ward
  • Craig B Lowe
  • Alisha K Holloway
  • Michele Clamp
  • Sante Gnerre
  • Moltke, Ida
  • Jiayu Wen
  • Jakob Skou Pedersen
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.
Original languageEnglish
JournalNature
Volume478
Issue number7370
Pages (from-to)476-82
Number of pages7
ISSN0028-0836
DOIs
Publication statusPublished - 27 Oct 2011

ID: 35188003