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A high-resolution map of human evolutionary constraint using 29 mammals
Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinsk biokemi och mikrobiologi. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
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2011 (engelsk)Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 478, nr 7370, s. 476-482Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

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 similar to 4.2% of the genome. We use evolutionary signatures and comparisons with experimental data sets to suggest candidate functions for similar to 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.

sted, utgiver, år, opplag, sider
2011. Vol. 478, nr 7370, s. 476-482
HSV kategori
Identifikatorer
URN: urn:nbn:se:uu:diva-161456DOI: 10.1038/nature10530ISI: 000296194200035OAI: oai:DiVA.org:uu-161456DiVA, id: diva2:456564
Tilgjengelig fra: 2011-11-15 Laget: 2011-11-14 Sist oppdatert: 2017-12-08bibliografisk kontrollert

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