Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 4 complete abstracts (773 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
A phenomenon that is observed when a small subgroup of a larger population establishes itself as a separate and isolated entity. The subgroup's gene pool carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive.
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Effect, Founder; Effects, Founder; Founder Effects.
Where it fits in the MeSH classification
- Broader topics
- Genetic Phenomena
Related concepts
- Population
- Gene Pool
Research landscape
PubMed indexes 3,292 records tagged with the MeSH heading “Founder Effect” (counts retrieved 2026-10-29). 391 of them (11.9%) were published from 2020 onward, and the busiest period so far is 2000-2009 with 1,318 records.
Reviews account for 164 records (5.0%) and meta-analyses for 6. Randomized controlled trials number 2 (0.1%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 288 |
| 2000-2009 | 1,318 |
| 2010-2019 | 1,295 |
| 2020 onward | 391 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 164 | 5.0% |
| Meta-analyses | 6 | 0.2% |
| Randomized controlled trials | 2 | 0.1% |
Method: PubMed query "Founder Effect"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in genetics and genomics
Genetic findings vary widely in strength. A variant linked to a condition in one study may not replicate in other ancestries, and most common variants have small effects that are meaningful only in aggregate. Studies of rare, high-impact variants can support strong causal claims about a gene, while association studies describe statistical links that need functional and independent replication. Check the sample size, the ancestry of participants, whether results were replicated, and whether a laboratory or clinical outcome was actually measured.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| The role of bZIP transcription factors in green plant evolution: adaptive features emerging from four founder genes | 2008 | Research article Design not recorded in structured metadata | 223 | cc by PMID 18698409 · DOI · PMC2492810 |
| Immortalization of primary microglia: a new platform to study HIV regulation in the central nervous system | 2017 | Research article Design not recorded in structured metadata | 189 | cc by PMID 27873219 · DOI · PMC5329090 |
| Origin and evolution of qingke barley in Tibet | 2018 | Research article Design not recorded in structured metadata | 145 | cc by PMID 30575759 · DOI · PMC6303313 |
| Genetic ancestry and monogenic disease risk in the Scottish Traveller founder population | 2026 | Research article Design not recorded in structured metadata | 0 | cc by PMID 42457683 · DOI · PMC13373179 |
The role of bZIP transcription factors in green plant evolution: adaptive features emerging from four founder genes [1]
Abstract reading summary — source excerpts
- Opening excerpt
- BackgroundTranscription factors of the basic leucine zipper (bZIP) family control important processes in all eukaryotes.
- Closing excerpt
- The four founder genes amplified and diverged significantly, generating traits that benefited the colonization of new environments.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (193 words)
BackgroundTranscription factors of the basic leucine zipper (bZIP) family control important processes in all eukaryotes. In plants, bZIPs are regulators of many central developmental and physiological processes including photomorphogenesis, leaf and seed formation, energy homeostasis, and abiotic and biotic stress responses. Here we performed a comprehensive phylogenetic analysis of bZIP genes from algae, mosses, ferns, gymnosperms and angiosperms.Methodology/principal findingsWe identified 13 groups of bZIP homologues in angiosperms, three more than known before, that represent 34 Possible Groups of Orthologues (PoGOs). The 34 PoGOs may correspond to the complete set of ancestral angiosperm bZIP genes that participated in the diversification of flowering plants. Homologous genes dedicated to seed-related processes and ABA-mediated stress responses originated in the common ancestor of seed plants, and three groups of homologues emerged in the angiosperm lineage, of which one group plays a role in optimizing the use of energy.Conclusions/significanceOur data suggest that the ancestor of green plants possessed four bZIP genes functionally involved in oxidative stress and unfolded protein responses that are bZIP-mediated processes in all eukaryotes, but also in light-dependent regulations. The four founder genes amplified and diverged significantly, generating traits that benefited the colonization of new environments.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 18698409 · DOI · PMC2492810
Immortalization of primary microglia: a new platform to study HIV regulation in the central nervous system [2]
Abstract reading summary — source excerpts
- Opening excerpt
- The major reservoirs for HIV in the CNS are in the microglia, perivascular macrophages, and to a lesser extent, astrocytes.
- Closing excerpt
- The cell lines we have developed and rigorously characterized will provide an invaluable resource for the study of HIV infection in microglial cells as well as studies of microglial cell function.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (233 words)
The major reservoirs for HIV in the CNS are in the microglia, perivascular macrophages, and to a lesser extent, astrocytes. To study the molecular events controlling HIV expression in the microglia, we developed a reliable and robust method to immortalize microglial cells from primary glia from fresh CNS tissues and commercially available frozen glial cells. Primary human cells, including cells obtained from adult brain tissue, were transformed with lentiviral vectors expressing SV40 T antigen or a combination of SVR40 T antigen and hTERT. The immortalized cells have microglia-like morphology and express key microglial surface markers including CD11b, TGFβR, and P2RY12. Importantly, these cells were confirmed to be of human origin by sequencing. The RNA expression profiles identified by RNA-seq are also characteristic of microglial cells. Furthermore, the cells demonstrate the expected migratory and phagocytic activity, and the capacity to mount an inflammatory response characteristic of primary microglia. The immortalization method has also been successfully applied to a wide range of microglia from other species (macaque, rat, and mouse). To investigate different aspects of HIV molecular regulation in CNS, the cells have been superinfected with HIV reporter viruses and latently infected clones have been selected that reactive HIV in response to inflammatory signals. The cell lines we have developed and rigorously characterized will provide an invaluable resource for the study of HIV infection in microglial cells as well as studies of microglial cell function.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 27873219 · DOI · PMC5329090
Origin and evolution of qingke barley in Tibet [3]
Abstract reading summary — source excerpts
- Opening excerpt
- Tibetan barley (Hordeum vulgare L.
- Closing excerpt
- The haplotypes of the five key domestication genes of barley support a feral or hybridization origin for Tibetan weedy barley and reject the hypothesis of native Tibetan wild barley.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (149 words)
Tibetan barley (Hordeum vulgare L., qingke) is the principal cereal cultivated on the Tibetan Plateau for at least 3,500 years, but its origin and domestication remain unclear. Here, based on deep-coverage whole-genome and published exome-capture resequencing data for a total of 437 accessions, we show that contemporary qingke is derived from eastern domesticated barley and it is introduced to southern Tibet most likely via north Pakistan, India, and Nepal between 4,500 and 3,500 years ago. The low genetic diversity of qingke suggests Tibet can be excluded as a center of origin or domestication for barley. The rapid decrease in genetic diversity from eastern domesticated barley to qingke can be explained by a founder effect from 4,500 to 2,000 years ago. The haplotypes of the five key domestication genes of barley support a feral or hybridization origin for Tibetan weedy barley and reject the hypothesis of native Tibetan wild barley.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 30575759 · DOI · PMC6303313
Genetic ancestry and monogenic disease risk in the Scottish Traveller founder population [4]
Abstract reading summary — source excerpts
- Opening excerpt
- The Scottish Travellers are a traditionally nomadic community in Scotland that has historically been marginalised, and remained socially isolated from the settled Scottish population until recently.
- Closing excerpt
- These findings provide insights into the genetic history of the Scottish Traveller population and highlight the opportunity and need for community-driven clinical genetics screening initiatives to decrease the scope for further health disparities.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (198 words)
The Scottish Travellers are a traditionally nomadic community in Scotland that has historically been marginalised, and remained socially isolated from the settled Scottish population until recently. Little, however, is known about their genetic origins, population structure and risks of Mendelian disease. After an approach from the community to address this gap and increase representation, we analyzed array genotypes and whole-exome sequencing data from up to 125 Gypsy/Traveller individuals, alongside settled British and Irish references. We demonstrate that Scottish Travellers are genetically distinct from Irish Travellers, English Gypsies and European Roma, as well as the settled British and Irish populations. However, they do share autosomal and mitochondrial genetic ancestry with settled Scots. Two genetic subgroups are detectable: one which is more drifted and one more admixed. High levels of autozygosity are apparent, consistent with consanguinity. We detect signals of bottlenecks in autosomal and mitochondrial data. Importantly, we identified an enrichment of rare, pathogenic variants, including at least five putative founder variants associated with recessive Mendelian disorders. These findings provide insights into the genetic history of the Scottish Traveller population and highlight the opportunity and need for community-driven clinical genetics screening initiatives to decrease the scope for further health disparities.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42457683 · DOI · PMC13373179
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Paradox lost: genetic diversity and the success of aquatic invasions [5]
- Research article Drivers of population genetic differentiation in the wild: isolation by dispersal limitation, isolation by adaptation and isolation by colonization [6]
- Research article Founder takes all: density-dependent processes structure biodiversity [7]
- Research article Founder mutations in BRCA1 and BRCA2 genes [8]
- Research article Does genetic diversity limit disease spread in natural host populations? [9]
- Research article The reality and importance of founder speciation in evolution [10]
References
- Corrêa LG, Riaño-Pachón DM, Schrago CG, dos Santos RV, Mueller-Roeber B, Vincentz M. The role of bZIP transcription factors in green plant evolution: adaptive features emerging from four founder genes. . 2008. PMID 18698409 · DOI · PMC2492810
- Garcia-Mesa Y, Jay TR, Checkley MA, Luttge B, Dobrowolski C, Valadkhan S, et al.. Immortalization of primary microglia: a new platform to study HIV regulation in the central nervous system. . 2017. PMID 27873219 · DOI · PMC5329090
- Zeng X, Guo Y, Xu Q, Mascher M, Guo G, Li S, et al.. Origin and evolution of qingke barley in Tibet. . 2018. PMID 30575759 · DOI · PMC6303313
- Shanmugam A, Fletcher BS, Pala M, Klaric L, Kerr SM, Donaldson SW, et al.. Genetic ancestry and monogenic disease risk in the Scottish Traveller founder population. . 2026. PMID 42457683 · DOI · PMC13373179
- Roman J, Darling JA. Paradox lost: genetic diversity and the success of aquatic invasions. Trends Ecol Evol. 2007. PMID 17673331 · DOI
- Orsini L, Vanoverbeke J, Swillen I, Mergeay J, De Meester L. Drivers of population genetic differentiation in the wild: isolation by dispersal limitation, isolation by adaptation and isolation by colonization. Mol Ecol. 2013. PMID 24128305 · DOI
- Waters JM, Fraser CI, Hewitt GM. Founder takes all: density-dependent processes structure biodiversity. Trends Ecol Evol. 2013. PMID 23000431 · DOI
- Ferla R, Calò V, Cascio S, Rinaldi G, Badalamenti G, Carreca I, et al.. Founder mutations in BRCA1 and BRCA2 genes. Ann Oncol. 2007. PMID 17591843 · DOI
- King KC, Lively CM. Does genetic diversity limit disease spread in natural host populations?. Heredity (Edinb). 2012. PMID 22713998 · DOI · PMC3464021
- Templeton AR. The reality and importance of founder speciation in evolution. Bioessays. 2008. PMID 18404703 · DOI
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.