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Cited by 500Evolution and Genetic DynamicsGenetic diversity and population structureGenetic Associations and Epidemiology

Cryptic genetic variation: evolution's hidden substrate

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Paaby, Annalise B., Rockman, Matthew V.·2014·Nature Reviews Genetics
DOI 10.1038/nrg3688PMC PMC4737706
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Abstract

Cryptic genetic variation (CGV) is invisible under normal conditions, but it can fuel evolution when circumstances change. In theory, CGV can represent a massive cache of adaptive potential or a pool of deleterious alleles that are in need of constant suppression. CGV emerges from both neutral and selective processes, and it may inform about how human populations respond to change. CGV facilitates adaptation in experimental settings, but does it have an important role in the real world? Here, we review the empirical support for widespread CGV in natural populations, including its potential role in emerging human diseases and the growing evidence of its contribution to evolution.

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  • Some enhancer variants that appear functionally neutral when tested under normal steady-state conditions may show cryptic effects under stress or upon stimulus response.

    “Notably, some enhancer variants that appear functionally neutral when tested under normal steady-state conditions may show “cryptic” effects under stress or upon stimulus response [107, 226, 227].”

    From Transcriptional enhancers and their communication with gene promoters (2021) · cites this paper as [227]

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Authors
Paaby, A. B., & Rockman, M. V.
Affiliations
New York University (US)
Corresponding author
Rockman, Matthew V.
ORCID
Venue
Nature Reviews Genetics
Publisher
Springer Science and Business Media LLC
Published
2014-03-11
Volume
15
Issue
4
Pages
247-258
ISSN
  • 1471-0056 (ISSN-L)
  • 1471-0064
DOI
10.1038/nrg3688
PMC
PMC4737706
OpenAlex
W2053817355
Cited by
500
References
8
Citations by year
2026: 30 · 2025: 26 · 2024: 44 · 2023: 33 · 2022: 38 · 2021: 46 · 2020: 47 · 2019: 50 · 2018: 39 · 2017: 46 · 2016: 48 · 2015: 35 · 2014: 16
FWCI
6.40
Type
journal article
Language
en
Open access
Licence
www.springer.com/tdm (tdm)
Locations
  • Nature Reviews Genetics (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • Ellison Medical Foundation
  • National Institutes of Health (5r01gm089972-05)
  • Guangdong Academy of Sciences
  • National Institute of General Medical Sciences (F32GM090557, R01-GM089972)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords
cryptic genetic variation, natural populations, adaptive potential, deleterious alleles, adaptation, human disease, evolution, neutral genetic diversity, selection
MeSH terms
Adaptation, Biological, Animals, Epistasis, Genetic, Humans, Models, Genetic, Phenotype, Selection, Genetic, Genetic Variation, Evolution, Molecular, Epigenesis, Genetic, Gene-Environment Interaction

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