Evidence map›Paper›PMID 39591813›Full record

ReviewCurrent opinion in genetics & development2025

Novelty versus innovation of gene regulatory elements in human evolution and disease.

Anushka Katikaneni, Craig B Lowe

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.

Anushka KatikaneniDepartment of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA; University Program in Genetics and Genomics, Duke University, Durham, NC 27708, USA.
Craig B LoweDepartment of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA; University Program in Genetics and Genomics, Duke University, Durham, NC 27708, USA. Electronic address: craig.lowe@duke.edu.

Funding

From a Long List to Causal Variants: High-Throughput Gene Regulatory Assays in Developing TissuesR35HG011332 · NHGRI · DUKE UNIVERSITY · PI LOWE, CRAIG BARRETT · 2020 to 2024
$2.3M
NHGRI NIH HHS R35 HG011332
6 · The paper itself

Abstract

It is not currently understood how much of human evolution is due to modifying existing functional elements in the genome versus forging novel elements from nonfunctional DNA. Many early experiments that aimed to assign genetic changes on the human lineage to their resulting phenotypic change have focused on mutations that modify existing elements. However, a number of recent studies have highlighted the potential ease and importance of forging novel gene regulatory elements from nonfunctional sequences on the human lineage. In this review, we distinguish gene regulatory element novelty from innovation. We propose definitions for these terms and emphasize their importance in studying the genetic basis of human uniqueness. We discuss why the forging of novel regulatory elements may have been less emphasized during the previous decades, and why novel regulatory elements are likely to play a significant role in both human adaptation and disease.

Indexed as

Evolution, MolecularRegulatory Elements, TranscriptionalAnimalsBiological EvolutionGene Expression RegulationGene Regulatory NetworksHuman GeneticsHumansMutation

Identifiers

PMID39591813
PMCPMC11769741

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.