SwePub
Sök i LIBRIS databas

  Extended search

WFRF:(Blanc Julie)
 

Search: WFRF:(Blanc Julie) > Identification of c...

Identification of constrained sequence elements across 239 primate genomes

Kuderna, Lukas F. K. (author)
Ulirsch, Jacob C. (author)
Rashid, Sabrina (author)
show more...
Ameen, Mohamed (author)
Sundaram, Laksshman (author)
Hickey, Glenn (author)
Cox, Anthony J. (author)
Gao, Hong (author)
Kumar, Arvind (author)
Aguet, Francois (author)
Christmas, Matthew J. (author)
Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
Clawson, Hiram (author)
Haeussler, Maximilian (author)
Janiak, Mareike C. (author)
Kuhlwilm, Martin (author)
Orkin, Joseph D. (author)
Bataillon, Thomas (author)
Manu, Shivakumara (author)
Valenzuela, Alejandro (author)
Bergman, Juraj (author)
Rouselle, Marjolaine (author)
Silva, Felipe Ennes (author)
Agueda, Lidia (author)
Blanc, Julie (author)
Gut, Marta (author)
de Vries, Dorien (author)
Goodhead, Ian (author)
Harris, R. Alan (author)
Raveendran, Muthuswamy (author)
Jensen, Axel (author)
Uppsala universitet,Zooekologi
Chuma, Idriss S. (author)
Horvath, Julie E. (author)
Hvilsom, Christina (author)
Juan, David (author)
Frandsen, Peter (author)
Schraiber, Joshua G. (author)
de Melo, Fabiano R. (author)
Bertuol, Fabrício (author)
Byrne, Hazel (author)
Sampaio, Iracilda (author)
Farias, Izeni (author)
Valsecchi, João (author)
Messias, Malu (author)
da Silva, Maria N. F. (author)
Trivedi, Mihir (author)
Rossi, Rogerio (author)
Hrbek, Tomas (author)
Andriaholinirina, Nicole (author)
Rabarivola, Clément J. (author)
Zaramody, Alphonse (author)
Jolly, Clifford J. (author)
Phillips-Conroy, Jane (author)
Wilkerson, Gregory (author)
Abee, Christian (author)
Simmons, Joe H. (author)
Fernandez-Duque, Eduardo (author)
Kanthaswamy, Sree (author)
Shiferaw, Fekadu (author)
Wu, Dongdong (author)
Zhou, Long (author)
Shao, Yong (author)
Zhang, Guojie (author)
Keyyu, Julius D. (author)
Knauf, Sascha (author)
Le, Minh D. (author)
Lizano, Esther (author)
Merker, Stefan (author)
Navarro, Arcadi (author)
Nadler, Tilo (author)
Chuen Khor, Chiea (author)
Lee, Jessica (author)
Tan, Patrick (author)
Khong Lim, Weng (author)
Kitchener, Andrew C. (author)
Zinner, Dietmar (author)
Gut, Ivo (author)
Melin, Amanda D. (author)
Guschanski, Katerina, Dr. 1978- (author)
Uppsala universitet,Zooekologi,Institute of Ecology and Evolution, School of Biological Sciences, University of Edinburgh, Edinburgh, UK
Heide Schierup, Mikkel (author)
Beck, Robin M. D. (author)
Karakikes, Ioannis (author)
Wang, Kevin C. (author)
Umapathy, Govindhaswamy (author)
Roos, Christian (author)
Boubli, Jean P. (author)
Siepel, Adam (author)
Kundaje, Anshul (author)
Paten, Benedict (author)
Lindblad-Toh, Kerstin (author)
Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Broad Institute of MIT and Harvard, Cambridge, MA, USA
Rogers, Jeffrey (author)
Marques Bonet, Tomas (author)
Kai-How Farh, Kyle (author)
show less...
 (creator_code:org_t)
Springer Nature, 2024
2024
English.
In: Nature. - : Springer Nature. - 0028-0836 .- 1476-4687. ; 625:7996, s. 735-742
  • Journal article (peer-reviewed)
Abstract Subject headings
Close  
  • Noncoding DNA is central to our understanding of human gene regulation and complex diseases1,2, and measuring the evolutionary sequence constraint can establish the functional relevance of putative regulatory elements in the human genome3,4,5,6,7,8,9. 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 species11, 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.

Subject headings

NATURVETENSKAP  -- Biologi -- Genetik (hsv//swe)
NATURAL SCIENCES  -- Biological Sciences -- Genetics (hsv//eng)
NATURVETENSKAP  -- Biologi -- Evolutionsbiologi (hsv//swe)
NATURAL SCIENCES  -- Biological Sciences -- Evolutionary Biology (hsv//eng)

Publication and Content Type

ref (subject category)
art (subject category)

Find in a library

  • Nature (Search for host publication in LIBRIS)

To the university's database

Find more in SwePub

By the author/editor
Kuderna, Lukas F ...
Ulirsch, Jacob C ...
Rashid, Sabrina
Ameen, Mohamed
Sundaram, Lakssh ...
Hickey, Glenn
show more...
Cox, Anthony J.
Gao, Hong
Kumar, Arvind
Aguet, Francois
Christmas, Matth ...
Clawson, Hiram
Haeussler, Maxim ...
Janiak, Mareike ...
Kuhlwilm, Martin
Orkin, Joseph D.
Bataillon, Thoma ...
Manu, Shivakumar ...
Valenzuela, Alej ...
Bergman, Juraj
Rouselle, Marjol ...
Silva, Felipe En ...
Agueda, Lidia
Blanc, Julie
Gut, Marta
de Vries, Dorien
Goodhead, Ian
Harris, R. Alan
Raveendran, Muth ...
Jensen, Axel
Chuma, Idriss S.
Horvath, Julie E ...
Hvilsom, Christi ...
Juan, David
Frandsen, Peter
Schraiber, Joshu ...
de Melo, Fabiano ...
Bertuol, Fabríci ...
Byrne, Hazel
Sampaio, Iracild ...
Farias, Izeni
Valsecchi, João
Messias, Malu
da Silva, Maria ...
Trivedi, Mihir
Rossi, Rogerio
Hrbek, Tomas
Andriaholinirina ...
Rabarivola, Clém ...
Zaramody, Alphon ...
Jolly, Clifford ...
Phillips-Conroy, ...
Wilkerson, Grego ...
Abee, Christian
Simmons, Joe H.
Fernandez-Duque, ...
Kanthaswamy, Sre ...
Shiferaw, Fekadu
Wu, Dongdong
Zhou, Long
Shao, Yong
Zhang, Guojie
Keyyu, Julius D.
Knauf, Sascha
Le, Minh D.
Lizano, Esther
Merker, Stefan
Navarro, Arcadi
Nadler, Tilo
Chuen Khor, Chie ...
Lee, Jessica
Tan, Patrick
Khong Lim, Weng
Kitchener, Andre ...
Zinner, Dietmar
Gut, Ivo
Melin, Amanda D.
Guschanski, Kate ...
Heide Schierup, ...
Beck, Robin M. D ...
Karakikes, Ioann ...
Wang, Kevin C.
Umapathy, Govind ...
Roos, Christian
Boubli, Jean P.
Siepel, Adam
Kundaje, Anshul
Paten, Benedict
Lindblad-Toh, Ke ...
Rogers, Jeffrey
Marques Bonet, T ...
Kai-How Farh, Ky ...
show less...
About the subject
NATURAL SCIENCES
NATURAL SCIENCES
and Biological Scien ...
and Genetics
NATURAL SCIENCES
NATURAL SCIENCES
and Biological Scien ...
and Evolutionary Bio ...
Articles in the publication
Nature
By the university
Uppsala University

Search outside SwePub

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