Evidence map›Paper›PMID 37104607›Full record

ArticleScience (New York, N.Y.)2023

Three-dimensional genome rewiring in loci with human accelerated regions.

Kathleen C Keough, Sean Whalen, Fumitaka Inoue, Pawel F Przytycki, Tyler Fair, Chengyu Deng, Marilyn Steyert, Hane Ryu, Kerstin Lindblad-Toh, Elinor Karlsson and 5 more

Open access · greenAbstract read
In one paragraph

Article in Science (New York, N.Y.), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers.

0numbers the graph read from it
0cells of the map it votes in
79citing papers in PubMed
16.5field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

79 citing papers in PubMed, 107 citations in OpenAlex.

  1. Article
  2. Machine learning reveals sequence and genomic context features underlyingbioRxiv : the preprint server for biology · 2026
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  11. Modular genetic architecture underlies human hand and foot evolution.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. Genomic-microbial coevolution in human development: chromosome 2 fusion, and human accelerated regions.Mammalian genome : official journal of the International Mammalian Genome Society · 2026
    Review
  17. Article
  18. Article
  19. Review
  20. Article

19 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors at 3 institutions in 2 countries.

Kathleen C KeoughGladstone Institute of Data Science and Biotechnology, San Francisco, CA, USA.ORCID 0000-0002-7481-0511
Sean WhalenGladstone Institute of Data Science and Biotechnology, San Francisco, CA, USA.ORCID 0000-0002-6648-3610
Fumitaka InoueDepartment of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.ORCID 0000-0003-0657-434X
Pawel F PrzytyckiGladstone Institute of Data Science and Biotechnology, San Francisco, CA, USA.ORCID 0000-0002-3360-6936
Tyler FairDepartment of Neurological Surgery, University of California San Francisco, San Francisco, CA, USA.
Chengyu DengDepartment of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.ORCID 0000-0003-3595-9935
Marilyn SteyertDepartment of Neurological Surgery, University of California San Francisco, San Francisco, CA, USA.ORCID 0000-0003-4095-4776
Hane RyuDepartment of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.
Kerstin Lindblad-TohScience for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.ORCID 0000-0001-8338-0253
Elinor KarlssonBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-4343-3776
Zoonomia Consortium§
Tomasz NowakowskiDepartment of Neurological Surgery, University of California San Francisco, San Francisco, CA, USA.ORCID 0000-0003-2345-4964
Nadav AhituvDepartment of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.ORCID 0000-0002-7434-8144
Alex PollenEli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California San Francisco, San Francisco, CA, USA.ORCID 0000-0003-3263-8634
Katherine S PollardGladstone Institute of Data Science and Biotechnology, San Francisco, CA, USA.ORCID 0000-0002-9870-6196
University of California, San Francisco · USBroad Institute · USGladstone Institutes · US

Funding

GENCODE: comprehensive reference genome annotation for human and mouseU24HG007234 · NHGRI · EUROPEAN MOLECULAR BIOLOGY LABORATORY · PI Fergal James Martin · 2021 to 2026
$16.1M
Massively parallel dissection of psychiatric regulatory networksR01MH109907 · NIMH · J. DAVID GLADSTONE INSTITUTES · PI AHITUV, NADAV, POLLARD, KATHERINE S. · 2016 to 2020
$3.4M
The 200 mammals project: sequencing genomes by a novel cost-effective method, yielding a high resolution annotation of the human genome.R01HG008742 · NHGRI · BROAD INSTITUTE, INC. · PI BIRREN, BRUCE W., KARLSSON, ELINOR · 2016 to 2020
$2.8M
Massively parallel characterization of psychiatric disease associated regulatory elements in defined cell typesU01MH116438 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI AHITUV, NADAV, POLLARD, KATHERINE S. · 2018 to 2021
$2.7M
Enabling Comparative PangenomicsR01HG010485 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI HAUSSLER, DAVID H, MARTIN, FERGAL JAMES · 2020 to 2023
$2.6M
Resolving single-cell brain regulatory elements with bulk data supervised modelsR01MH123178 · NIMH · J. DAVID GLADSTONE INSTITUTES · PI POLLARD, KATHERINE S. · 2020 to 2023
$2.4M
Establishing A Stem Cell Biology Platform for Decoding the Genetic Basis of Human Brain SpecializationsDP2MH122400 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI POLLEN, ALEXANDER A · 2019 to 2019
$2.4M
Massively parallel characterization of psychiatric disease associated regulatory elements in defined cell typesR01MH116438 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI AHITUV, NADAV, POLLARD, KATHERINE S. · 2022 to 2022
$668k
NHGRI NIH HHS R01 HG008742NHGRI NIH HHS R01 HG010485NHGRI NIH HHS U24 HG007234NIMH NIH HHS DP2 MH122400NIMH NIH HHS R01 MH109907NIMH NIH HHS R01 MH116438NIMH NIH HHS R01 MH123178NIMH NIH HHS U01 MH116438
6 · The paper itself

Abstract

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.

Indexed as

Genetic LociNeurogenesisAnimalsChromatinDeep LearningGenome, HumanGenomicsHumansPan troglodytesChromatin

Identifiers

PMID37104607
PMCPMC10999243
OpenAlexW4367173670

What Socratic holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.