Sökning: onr:"swepub:oai:DiVA.org:uu-520342" > Identification of c...
Fältnamn | Indikatorer | Metadata |
---|---|---|
000 | 06920naa a2201417 4500 | |
001 | oai:DiVA.org:uu-520342 | |
003 | SwePub | |
008 | 240112s2024 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-5203422 URI |
024 | 7 | a https://doi.org/10.1038/s41586-023-06798-82 DOI |
040 | a (SwePub)uu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Kuderna, Lukas F. K.4 aut |
245 | 1 0 | a Identification of constrained sequence elements across 239 primate genomes |
264 | 1 | b Springer Nature,c 2024 |
338 | a electronic2 rdacarrier | |
520 | a 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. | |
650 | 7 | a NATURVETENSKAPx Biologix Genetik0 (SwePub)106092 hsv//swe |
650 | 7 | a NATURAL SCIENCESx Biological Sciencesx Genetics0 (SwePub)106092 hsv//eng |
650 | 7 | a NATURVETENSKAPx Biologix Evolutionsbiologi0 (SwePub)106152 hsv//swe |
650 | 7 | a NATURAL SCIENCESx Biological Sciencesx Evolutionary Biology0 (SwePub)106152 hsv//eng |
700 | 1 | a Ulirsch, Jacob C.4 aut |
700 | 1 | a Rashid, Sabrina4 aut |
700 | 1 | a Ameen, Mohamed4 aut |
700 | 1 | a Sundaram, Laksshman4 aut |
700 | 1 | a Hickey, Glenn4 aut |
700 | 1 | a Cox, Anthony J.4 aut |
700 | 1 | a Gao, Hong4 aut |
700 | 1 | a Kumar, Arvind4 aut |
700 | 1 | a Aguet, Francois4 aut |
700 | 1 | a Christmas, Matthew J.u Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)match108 |
700 | 1 | a Clawson, Hiram4 aut |
700 | 1 | a Haeussler, Maximilian4 aut |
700 | 1 | a Janiak, Mareike C.4 aut |
700 | 1 | a Kuhlwilm, Martin4 aut |
700 | 1 | a Orkin, Joseph D.4 aut |
700 | 1 | a Bataillon, Thomas4 aut |
700 | 1 | a Manu, Shivakumara4 aut |
700 | 1 | a Valenzuela, Alejandro4 aut |
700 | 1 | a Bergman, Juraj4 aut |
700 | 1 | a Rouselle, Marjolaine4 aut |
700 | 1 | a Silva, Felipe Ennes4 aut |
700 | 1 | a Agueda, Lidia4 aut |
700 | 1 | a Blanc, Julie4 aut |
700 | 1 | a Gut, Marta4 aut |
700 | 1 | a de Vries, Dorien4 aut |
700 | 1 | a Goodhead, Ian4 aut |
700 | 1 | a Harris, R. Alan4 aut |
700 | 1 | a Raveendran, Muthuswamy4 aut |
700 | 1 | a Jensen, Axelu Uppsala universitet,Zooekologi4 aut0 (Swepub:uu)axeje389 |
700 | 1 | a Chuma, Idriss S.4 aut |
700 | 1 | a Horvath, Julie E.4 aut |
700 | 1 | a Hvilsom, Christina4 aut |
700 | 1 | a Juan, David4 aut |
700 | 1 | a Frandsen, Peter4 aut |
700 | 1 | a Schraiber, Joshua G.4 aut |
700 | 1 | a de Melo, Fabiano R.4 aut |
700 | 1 | a Bertuol, Fabrício4 aut |
700 | 1 | a Byrne, Hazel4 aut |
700 | 1 | a Sampaio, Iracilda4 aut |
700 | 1 | a Farias, Izeni4 aut |
700 | 1 | a Valsecchi, João4 aut |
700 | 1 | a Messias, Malu4 aut |
700 | 1 | a da Silva, Maria N. F.4 aut |
700 | 1 | a Trivedi, Mihir4 aut |
700 | 1 | a Rossi, Rogerio4 aut |
700 | 1 | a Hrbek, Tomas4 aut |
700 | 1 | a Andriaholinirina, Nicole4 aut |
700 | 1 | a Rabarivola, Clément J.4 aut |
700 | 1 | a Zaramody, Alphonse4 aut |
700 | 1 | a Jolly, Clifford J.4 aut |
700 | 1 | a Phillips-Conroy, Jane4 aut |
700 | 1 | a Wilkerson, Gregory4 aut |
700 | 1 | a Abee, Christian4 aut |
700 | 1 | a Simmons, Joe H.4 aut |
700 | 1 | a Fernandez-Duque, Eduardo4 aut |
700 | 1 | a Kanthaswamy, Sree4 aut |
700 | 1 | a Shiferaw, Fekadu4 aut |
700 | 1 | a Wu, Dongdong4 aut |
700 | 1 | a Zhou, Long4 aut |
700 | 1 | a Shao, Yong4 aut |
700 | 1 | a Zhang, Guojie4 aut |
700 | 1 | a Keyyu, Julius D.4 aut |
700 | 1 | a Knauf, Sascha4 aut |
700 | 1 | a Le, Minh D.4 aut |
700 | 1 | a Lizano, Esther4 aut |
700 | 1 | a Merker, Stefan4 aut |
700 | 1 | a Navarro, Arcadi4 aut |
700 | 1 | a Nadler, Tilo4 aut |
700 | 1 | a Chuen Khor, Chiea4 aut |
700 | 1 | a Lee, Jessica4 aut |
700 | 1 | a Tan, Patrick4 aut |
700 | 1 | a Khong Lim, Weng4 aut |
700 | 1 | a Kitchener, Andrew C.4 aut |
700 | 1 | a Zinner, Dietmar4 aut |
700 | 1 | a Gut, Ivo4 aut |
700 | 1 | a Melin, Amanda D.4 aut |
700 | 1 | a Guschanski, Katerina,c Dr.d 1978-u Uppsala universitet,Zooekologi,Institute of Ecology and Evolution, School of Biological Sciences, University of Edinburgh, Edinburgh, UK4 aut0 (Swepub:uu)katgu490 |
700 | 1 | a Heide Schierup, Mikkel4 aut |
700 | 1 | a Beck, Robin M. D.4 aut |
700 | 1 | a Karakikes, Ioannis4 aut |
700 | 1 | a Wang, Kevin C.4 aut |
700 | 1 | a Umapathy, Govindhaswamy4 aut |
700 | 1 | a Roos, Christian4 aut |
700 | 1 | a Boubli, Jean P.4 aut |
700 | 1 | a Siepel, Adam4 aut |
700 | 1 | a Kundaje, Anshul4 aut |
700 | 1 | a Paten, Benedict4 aut |
700 | 1 | a Lindblad-Toh, Kerstinu Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Broad Institute of MIT and Harvard, Cambridge, MA, USA4 aut0 (Swepub:uu)kerli865 |
700 | 1 | a Rogers, Jeffrey4 aut |
700 | 1 | a Marques Bonet, Tomas4 aut |
700 | 1 | a Kai-How Farh, Kyle4 aut |
710 | 2 | a Uppsala universitetb Institutionen för medicinsk biokemi och mikrobiologi4 org |
773 | 0 | t Natured : Springer Natureg 625:7996, s. 735-742q 625:7996<735-742x 0028-0836x 1476-4687 |
856 | 4 | u https://doi.org/10.1038/s41586-023-06798-8y Fulltext |
856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:1826846/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-520342 |
856 | 4 8 | u https://doi.org/10.1038/s41586-023-06798-8 |
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.
Kopiera och spara länken för att återkomma till aktuell vy