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  • Keough, Kathleen C.Gladstone Inst Data Sci & Biotechnol, San Francisco, CA 94158 USA.;Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USA.;Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA. (author)

Three-dimensional genome rewiring in loci with human accelerated regions

  • Article/chapterEnglish2023

Publisher, publication year, extent ...

  • American Association for the Advancement of Science (AAAS),2023
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-505571
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-505571URI
  • https://doi.org/10.1126/science.abm1696DOI

Supplementary language notes

  • Language:English
  • Summary in:English

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

Notes

  • Human accelerated regions (HARs) are conserved genomic loci that evolved at an accelerated rate in the human lineage and may underlie human-specific traits. We generated HARs and chimpanzee accelerated regions with an automated pipeline and an alignment of 241 mammalian genomes. Combining deep learning with chromatin capture experiments in human and chimpanzee neural progenitor cells, we discovered a significant enrichment of HARs in topologically associating domains containing human -specific genomic variants that change three-dimensional (3D) genome organization. Differential gene expression between humans and chimpanzees at these loci suggests rewiring of regulatory interactions between HARs and neurodevelopmental genes. Thus, comparative genomics together with models of 3D genome folding revealed enhancer hijacking as an explanation for the rapid evolution of HARs.

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  • Whalen, SeanGladstone Inst Data Sci & Biotechnol, San Francisco, CA 94158 USA. (author)
  • Inoue, FumitakaUniv Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USA.;Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA.;Kyoto Univ, Inst Adv Study Human Biol WPI ASHBi, Kyoto, Japan. (author)
  • Przytycki, Pawel F.Gladstone Inst Data Sci & Biotechnol, San Francisco, CA 94158 USA.;Boston Univ, Fac Comp & Data Sci, Boston, MA 02215 USA. (author)
  • Fair, TylerUniv Calif San Francisco, Dept Neurol Surg, San Francisco, CA USA.;Univ Calif San Francisco, Dept Anat, San Francisco, CA 94143 USA. (author)
  • Deng, ChengyuUniv Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USA.;Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA. (author)
  • Steyert, MarilynUniv Calif San Francisco, Dept Neurol Surg, San Francisco, CA USA.;Univ Calif San Francisco, Dept Anat, San Francisco, CA 94143 USA.;Univ Calif San Francisco, Dept Psychiat & Behav Sci, San Francisco, CA 94143 USA.;Univ Calif San Francisco, Eli & Edythe Broad Ctr Regenerat Med & Stem Cell, San Francisco, CA 94143 USA. (author)
  • Ryu, HaneUniv Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USA.;Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA. (author)
  • Lindblad-Toh, KerstinUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Broad Inst MIT & Harvard, Cambridge, MA USA.(Swepub:uu)kerli865 (author)
  • Karlsson, ElinorBroad Inst MIT & Harvard, Cambridge, MA USA.;UMass, Chan Med Sch, Program Bioinformat & Integrat Biol, Worcester, MA USA.;UMass, Chan Med Sch, Program Mol Med, Worcester, MA USA. (author)
  • Nowakowski, TomaszUniv Calif San Francisco, Dept Neurol Surg, San Francisco, CA USA.;Univ Calif San Francisco, Dept Anat, San Francisco, CA 94143 USA.;Univ Calif San Francisco, Dept Psychiat & Behav Sci, San Francisco, CA 94143 USA.;Univ Calif San Francisco, Eli & Edythe Broad Ctr Regenerat Med & Stem Cell, San Francisco, CA 94143 USA. (author)
  • Ahituv, NadavUniv Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USA.;Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA. (author)
  • Pollen, AlexUniv Calif San Francisco, Dept Neurol, San Francisco, CA USA. (author)
  • Pollard, Katherine S.Gladstone Inst Data Sci & Biotechnol, San Francisco, CA 94158 USA.;Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA.;Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94143 USA.;Univ Calif San Francisco, Bakar Inst Comp Hlth Sci, San Francisco, CA 94143 USA.;Chan Zuckerberg Biohub, San Francisco, CA 94158 USA. (author)
  • Gladstone Inst Data Sci & Biotechnol, San Francisco, CA 94158 USA.;Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USA.;Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA.Gladstone Inst Data Sci & Biotechnol, San Francisco, CA 94158 USA. (creator_code:org_t)

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  • In:Science: American Association for the Advancement of Science (AAAS)380:66430036-80751095-9203

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