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Identification of constrained sequence elements across 239 primate genomes
Nature (London), 2024-01, Vol.625 (7996), p.735-742
2024
Volltextzugriff (PDF)

Details

Autor(en) / Beteiligte
Titel
Identification of constrained sequence elements across 239 primate genomes
Ist Teil von
  • Nature (London), 2024-01, Vol.625 (7996), p.735-742
Ort / Verlag
England: Nature Publishing Group
Erscheinungsjahr
2024
Quelle
MEDLINE
Beschreibungen/Notizen
  • Noncoding DNA is central to our understanding of human gene regulation and complex diseases , and measuring the evolutionary sequence constraint can establish the functional relevance of putative regulatory elements in the human genome . Identifying the genomic elements that have become constrained specifically in primates has been hampered by the faster evolution of noncoding DNA compared to protein-coding DNA , the relatively short timescales separating primate species , and the previously limited availability of whole-genome sequences . Here we construct a whole-genome alignment of 239 species, representing nearly half of all extant species in the primate order. Using this resource, we identified human regulatory elements that are under selective constraint across primates and other mammals at a 5% false discovery rate. We detected 111,318 DNase I hypersensitivity sites and 267,410 transcription factor binding sites that are constrained specifically in primates but not across other placental mammals and validate their cis-regulatory effects on gene expression. These regulatory elements are enriched for human genetic variants that affect gene expression and complex traits and diseases. Our results highlight the important role of recent evolution in regulatory sequence elements differentiating primates, including humans, from other placental mammals.
Sprache
Englisch
Identifikatoren
ISSN: 0028-0836, 1476-4687
eISSN: 1476-4687
DOI: 10.1038/s41586-023-06798-8
Titel-ID: cdi_swepub_primary_oai_DiVA_org_uu_520342
Format
–
Schlagworte
Animals, Binding sites, Biological evolution, Conserved Sequence - genetics, Constraints, Deoxyribonuclease, Deoxyribonuclease I - metabolism, Deoxyribonucleic acid, DNA, DNA - genetics, DNA - metabolism, Evolution, Evolution, Molecular, Female, Gene expression, Gene Expression Regulation - genetics, Gene regulation, Genetic diversity, Genetic variance, Genome - genetics, Genomes, Genomics, Humans, Hypersensitivity, Mammals, Mammals - classification, Mammals - genetics, Monkeys & apes, Mutation, Nucleotide sequence, Phylogenetics, Placenta, Placentalia, Pregnancy, Primates, Primates - classification, Primates - genetics, Proteins, Proteins - genetics, Regulatory sequences, Regulatory Sequences, Nucleic Acid - genetics, Reproducibility of Results, Transcription factors, Transcription Factors - metabolism, Vertebrates

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