Search: (WFRF:(Muzny Donna M.)) pers:(Margulies Elliott H.) pers:(Haussler David)
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A high-resolution m...
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Lindblad-Toh, KerstinUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
(author)
A high-resolution map of human evolutionary constraint using 29 mammals
- Article/chapterEnglish2011
Publisher, publication year, extent ...
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2011-10-12
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Springer Science and Business Media LLC,2011
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:uu-161456
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-161456URI
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https://doi.org/10.1038/nature10530DOI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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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.
Added entries (persons, corporate bodies, meetings, titles ...)
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Garber, Manuel
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Zuk, Or
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Lin, Michael F.
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Parker, Brian J.
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Washietl, Stefan
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Kheradpour, Pouya
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Ernst, Jason
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Jordan, Gregory
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Mauceli, Evan
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Ward, Lucas D.
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Lowe, Craig B.
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Holloway, Alisha K.
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Clamp, Michele
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Gnerre, Sante
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Alfoeldi, Jessica
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Beal, Kathryn
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Chang, Jean
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Clawson, Hiram
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Cuff, James
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Di Palma, Federica
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Fitzgerald, Stephen
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Flicek, Paul
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Guttman, Mitchell
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Hubisz, Melissa J.
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Jaffe, David B.
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Jungreis, Irwin
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Kent, W. James
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Kostka, Dennis
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Lara, Marcia
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Martins, Andre L.
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Massingham, Tim
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Moltke, Ida
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Raney, Brian J.
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Rasmussen, Matthew D.
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Robinson, Jim
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Stark, Alexander
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Vilella, Albert J.
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Wen, Jiayu
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Xie, Xiaohui
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Zody, Michael C.
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Worley, Kim C.
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Kovar, Christie L.
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Muzny, Donna M.
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Gibbs, Richard A.
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Warren, Wesley C.
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Mardis, Elaine R.
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Weinstock, George M.
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Wilson, Richard K.
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Birney, Ewan
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Margulies, Elliott H.
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Herrero, Javier
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Green, Eric D.
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Haussler, David
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Siepel, Adam
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Goldman, Nick
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Pollard, Katherine S.
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Pedersen, Jakob S.
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Lander, Eric S.
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Kellis, Manolis
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Uppsala universitetInstitutionen för medicinsk biokemi och mikrobiologi
(creator_code:org_t)
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In:Nature: Springer Science and Business Media LLC478:7370, s. 476-4820028-08361476-4687
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Lindblad-Toh, Ke ...
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Garber, Manuel
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Zuk, Or
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Lin, Michael F.
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Parker, Brian J.
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