Evidence mapPaperPMID 40543151Full record

ReviewCurrent opinion in genetics & development2025

Lineage-specific regulatory evolution: insights from massively parallel reporter assays.

Ryder Easterlin, Nadav Ahituv

Abstract readReview
In one paragraph

Review in Current opinion in genetics & development, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
field-weighted citation impact
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

2 citing papers in PubMed.

  1. Article
  2. Article
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.

Ryder EasterlinDepartment of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
Nadav AhituvDepartment of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA. Electronic address: nadav.ahituv@ucsf.edu.

Funding

Multiethnic genomic epigenomic and transcriptomic fine-mapping and functional validation analysis of schizophrenia and bipolar disorder risk lociR01MH125246 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · 2022 to 2025
$4.1M
Massively parallel characterization of variants and elements impacting transcriptional regulation in dynamic cellular systemsUM1HG011966 · UNIVERSITY OF WASHINGTON · 2025 to 2025
$1.8M
Rarely Common: Uncovering the dominant role of rare variants in the genetic architecture of complex human traits.R01GM142112 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Ryan D. Hernandez · 2023 to 2024
$1.1M
The cis-regulatory basis of lineage-specific phenotypes among human groupsF31HG013464 · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · 2025 to 2025
$47k
NHGRI NIH HHS F31 HG013464NHGRI NIH HHS UM1 HG011966NIGMS NIH HHS R01 GM142112NIMH NIH HHS R01 MH125246
6 · The paper itself

Abstract

Lineage-specific genetic variants play a key role in evolutionary divergence, particularly through changes in cis-regulatory elements that fine-tune gene expression. Massively parallel reporter assays (MPRAs) provide a powerful approach to characterize these variants at scale. This review highlights how MPRAs have been used to study lineage-specific regulatory activity in enhancer elements, including human accelerated regions, human adaptive quickly evolving regions, and short human-specific conserved deletions. We discuss the effects of enhancer variation on traits distinguishing modern humans, archaic hominins, and primates, as well as how MPRAs disentangle cis- and trans-regulatory contributions to gene expression divergence. As MPRA technology advances, integrating it with CRISPR-based validation and artificial intelligence-driven predictions will further illuminate the role of lineage-specific regulatory evolution.

Indexed as

Enhancer Elements, GeneticEvolution, MolecularGene Expression RegulationAnimalsGenes, ReporterGenetic VariationHigh-Throughput Nucleotide SequencingHumans

Identifiers

PMID40543151
PMCPMC13215266

What Socratic holds

Textmetadata
LicenceCC BY
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.