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Three-dimensional genome rewiring in loci with human accelerated regions

Keough, Kathleen C. (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.
Whalen, Sean (author)
Gladstone Inst Data Sci & Biotechnol, San Francisco, CA 94158 USA.
Inoue, Fumitaka (author)
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.;Kyoto Univ, Inst Adv Study Human Biol WPI ASHBi, Kyoto, Japan.
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Przytycki, Pawel F. (author)
Gladstone Inst Data Sci & Biotechnol, San Francisco, CA 94158 USA.;Boston Univ, Fac Comp & Data Sci, Boston, MA 02215 USA.
Fair, Tyler (author)
Univ Calif San Francisco, Dept Neurol Surg, San Francisco, CA USA.;Univ Calif San Francisco, Dept Anat, San Francisco, CA 94143 USA.
Deng, Chengyu (author)
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.
Steyert, Marilyn (author)
Univ 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.
Ryu, Hane (author)
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.
Lindblad-Toh, Kerstin (author)
Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Broad Inst MIT & Harvard, Cambridge, MA USA.
Karlsson, Elinor (author)
Broad 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.
Nowakowski, Tomasz (author)
Univ 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.
Ahituv, Nadav (author)
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.
Pollen, Alex (author)
Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA.
Pollard, Katherine S. (author)
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.
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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)
American Association for the Advancement of Science (AAAS), 2023
2023
English.
In: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 380:6643
Related links:
https://urn.kb.se/re...
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https://doi.org/10.1...
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • 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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)
NATURVETENSKAP  -- Biologi -- Genetik (hsv//swe)
NATURAL SCIENCES  -- Biological Sciences -- Genetics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)

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