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| Pàgina inicial > Articles > Articles publicats > Identification of constrained sequence elements across 239 primate genomes |
(Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) (University of Vienna. Department of Evolutionary Anthropology) (Centre Nacional d'Anàlisi Genòmica (CNAG)) (Centre Nacional d'Anàlisi Genòmica (CNAG)) (University of Salford. School of Science, Engineering and Environment) (University of Salford. School of Science, Engineering and Environment) (Baylor College of Medicine. Department of Molecular and Human Genetics) (Baylor College of Medicine. Department of Molecular and Human Genetics) (Uppsala University. Department of Ecology and Genetics) (Institut de Biologia Evolutiva (Barcelona)) (Universidade Federal de Viçosa) (Universidade Federal do Amazonas. Departamento de Genética) (Universidade Federal do Pará (Brasil)) (Universidade Federal do Amazonas. Departamento de Genética) (Comunidad de Manejo de Fauna Silvestre en la Amazonía y en Latinoamérica-ComFauna) (Universidade Federal de Rondônia) (Trinity University. Department of Biology) (MD Anderson Cancer Center. Keeling Center for Comparative Medicine and Research) (MD Anderson Cancer Center. Keeling Center for Comparative Medicine and Research) (Yale University. Department of Anthropology) (Chinese Academy of Sciences. Kunming Institute of Zoology. State Key Laboratory of Genetic Resources and Evolution) (Zhejiang University School of Medicine. Center for Evolutionary and Organismal Biology) (Chinese Academy of Sciences. Kunming Institute of Zoology. State Key Laboratory of Genetic Resources and Evolution) (Zhejiang University Medical Center) (Justus Liebig University. Faculty of Veterinary Medicine) (Institut Català de Paleontologia Miquel Crusafont) (Institut de Biologia Evolutiva (Barcelona)) (Genome Institute of Singapore) (Centre Nacional d'Anàlisi Genòmica (CNAG)) (University of Calgary. Alberta Children's Hospital Research Institute) (University of Edinburgh. School of Biological Sciences) (Aarhus University. Bioinformatics Research Centre) (University of Salford. School of Science, Engineering and Environment) (Leibniz Institute for Primate Research. German Primate Center) (University of Salford. School of Science, Engineering and Environment) (Simons Center for Quantitative Biology. Cold Spring Harbor Laboratory) (University of California. Santa Cruz Genomics Institute) (Uppsala University. Department of Medical Biochemistry and Microbiology) (Baylor College of Medicine. Department of Molecular and Human Genetics) (Institut Català de Paleontologia Miquel Crusafont)| Data: | 2023 |
| Resum: | 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 DNA10, the relatively short timescales separating primate species, and the previously limited availability of whole-genome sequences12. 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. |
| Ajuts: | European Commission 864203 European Commission 847648 European Commission 801505 Ministerio de Ciencia e Innovación PID2021-126004NB-100 Agencia Estatal de Investigación PGC2018-101927-BI00 704 Agencia Estatal de Investigación CEX2018-000792-M Agència de Gestió d'Ajuts Universitaris i de Recerca 2017/SGR-880 Agència de Gestió d'Ajuts Universitaris i de Recerca 2021/SGR-00177 |
| Drets: | Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.  |
| Llengua: | Anglès |
| Document: | Article ; recerca ; Versió publicada |
| Matèria: | Comparative genomics ; Evolutionary genetics ; Genetic variation ; Genome evolution ; Transcriptional regulatory elements |
| Publicat a: | Nature, Published online nov. 2023, ISSN 1476-4687 |
