Evidence map›Paper›PMID 36070559›Full record

ReviewAnnual review of genetics2022

Enhancer Function and Evolutionary Roles of Human Accelerated Regions.

Sean Whalen, Katherine S Pollard

Open access · hybridAbstract readReview
In one paragraph

Review in Annual review of genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed, 1 pooled it
5.5field-weighted citation impact, top 3% 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

39 citing papers in PubMed, 1 synthesis or guideline pooled it, 71 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. A putativebioRxiv : the preprint server for biology · 2026
    Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Dynamics of dN/dS within recombining bacterial populations.bioRxiv : the preprint server for biology · 2025
    Article
  9. Review
  10. Article
  11. Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. Regulatory Plasticity of the Human Genome.Molecular biology and evolution · 2025
    Article
  20. Review
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

2 authors at 2 institutions in 1 country.

Sean WhalenGladstone Institute of Data Science and Biotechnology, San Francisco, California, USA; email: sean.whalen@gladstone.ucsf.edu, kpollard@gladstone.ucsf.edu.
Katherine S PollardGladstone Institute of Data Science and Biotechnology, San Francisco, California, USA; email: sean.whalen@gladstone.ucsf.edu, kpollard@gladstone.ucsf.edu.
Gladstone Institutes · USUniversity of California, San Francisco · US

Funding

Massively parallel dissection of psychiatric regulatory networksR01MH109907 · NIMH · J. DAVID GLADSTONE INSTITUTES · PI AHITUV, NADAV, POLLARD, KATHERINE S. · 2016 to 2020
$3.4M
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
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
NIMH NIH HHS R01 MH109907NIMH NIH HHS U01 MH116438
6 · The paper itself

Abstract

Human accelerated regions (HARs) are the fastest-evolving sequences in the human genome. When HARs were discovered in 2006, their function was mysterious due to scant annotation of the noncoding genome. Diverse technologies, from transgenic animals to machine learning, have consistently shown that HARs function as gene regulatory enhancers with significant enrichment in neurodevelopment. It is now possible to quantitatively measure the enhancer activity of thousands of HARs in parallel and model how each nucleotide contributes to gene expression. These strategies have revealed that many human HAR sequences function differently than their chimpanzee orthologs, though individual nucleotide changes in the same HAR may have opposite effects, consistent with compensatory substitutions. To fully evaluate the role of HARs in human evolution, it will be necessary to experimentally and computationally dissect them across more cell types and developmental stages.

Indexed as

Genome, HumanNucleotidesAnimalsAnimals, Genetically ModifiedHumansNucleotidesenhancerepigeneticsevolutionhuman accelerated regionmachine learningreporter assay

Identifiers

PMID36070559
PMCPMC9712246
OpenAlexW4294912080

What OpenQuestion 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 OpenQuestion graph.