SwePub
Sök i LIBRIS databas

  Extended search

(WFRF:(Muzny Donna M.)) pers:(Margulies Elliott H.) pers:(Haussler David)
 

Search: (WFRF:(Muzny Donna M.)) pers:(Margulies Elliott H.) pers:(Haussler David) > (2011) > A high-resolution m...

  • 1 of 1
  • Previous record
  • Next record
  •    To hitlist
  • 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 ...

  • 2011-10-12
  • Springer Science and Business Media LLC,2011
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-161456
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-161456URI
  • https://doi.org/10.1038/nature10530DOI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • 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 ...)

  • Garber, Manuel (author)
  • Zuk, Or (author)
  • Lin, Michael F. (author)
  • Parker, Brian J. (author)
  • Washietl, Stefan (author)
  • Kheradpour, Pouya (author)
  • Ernst, Jason (author)
  • Jordan, Gregory (author)
  • Mauceli, Evan (author)
  • Ward, Lucas D. (author)
  • Lowe, Craig B. (author)
  • Holloway, Alisha K. (author)
  • Clamp, Michele (author)
  • Gnerre, Sante (author)
  • Alfoeldi, Jessica (author)
  • Beal, Kathryn (author)
  • Chang, Jean (author)
  • Clawson, Hiram (author)
  • Cuff, James (author)
  • Di Palma, Federica (author)
  • Fitzgerald, Stephen (author)
  • Flicek, Paul (author)
  • Guttman, Mitchell (author)
  • Hubisz, Melissa J. (author)
  • Jaffe, David B. (author)
  • Jungreis, Irwin (author)
  • Kent, W. James (author)
  • Kostka, Dennis (author)
  • Lara, Marcia (author)
  • Martins, Andre L. (author)
  • Massingham, Tim (author)
  • Moltke, Ida (author)
  • Raney, Brian J. (author)
  • Rasmussen, Matthew D. (author)
  • Robinson, Jim (author)
  • Stark, Alexander (author)
  • Vilella, Albert J. (author)
  • Wen, Jiayu (author)
  • Xie, Xiaohui (author)
  • Zody, Michael C. (author)
  • Worley, Kim C. (author)
  • Kovar, Christie L. (author)
  • Muzny, Donna M. (author)
  • Gibbs, Richard A. (author)
  • Warren, Wesley C. (author)
  • Mardis, Elaine R. (author)
  • Weinstock, George M. (author)
  • Wilson, Richard K. (author)
  • Birney, Ewan (author)
  • Margulies, Elliott H. (author)
  • Herrero, Javier (author)
  • Green, Eric D. (author)
  • Haussler, David (author)
  • Siepel, Adam (author)
  • Goldman, Nick (author)
  • Pollard, Katherine S. (author)
  • Pedersen, Jakob S. (author)
  • Lander, Eric S. (author)
  • Kellis, Manolis (author)
  • Uppsala universitetInstitutionen för medicinsk biokemi och mikrobiologi (creator_code:org_t)

Related titles

  • In:Nature: Springer Science and Business Media LLC478:7370, s. 476-4820028-08361476-4687

Internet link

Find in a library

  • Nature (Search for host publication in LIBRIS)

To the university's database

  • 1 of 1
  • Previous record
  • Next record
  •    To hitlist

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Close

Copy and save the link in order to return to this view