Open research questions in Genetic diversity and population structure

What the literature leaves open

• The risk of under- or over-splitting species into smaller units. The challenge of balancing patterns identified with their uncertainty. The need for genetic knowledge to support conservation assessments and management actions.

  A practical framework for identifying genetic subpopulations and ESUs: Insights for IUCN assessments and broader management · 2026 · DOI

• The lack of standardized methods for identifying and delineating genetically distinct units. The oversight of genetically distinct units in species conservation assessments. The need for a framework to integrate molecular and non-molecular evidence for conservation assessments.

  A practical framework for identifying genetic subpopulations and ESUs: Insights for IUCN assessments and broader management · 2026 · DOI

• The identification of gaps or discrepancies in the mitochondrial genome assembly. The need to validate the mitochondrial genome assembly using PCR and Sanger sequencing. The presence of missing data in the dataset, with 2.32% missing data throughout.

  Mitochondrial genome-derived microsatellites reveal genetic diversity and population structure in Callery pear populations · 2026 · DOI

• Neither a mitochondrial genome resource nor mitochondrial short sequence repeats have been developed for this purpose - Limited to mitochondrial genome-derived microsatellites

  Mitochondrial genome-derived microsatellites reveal genetic diversity and population structure in Callery pear populations · 2026 · DOI

• Whether such turnover was accompanied by nuclear introgression, and how it affects their genomes today, remains unclear.

  Extensive nuclear introgression accompanied ancient mitochondrial capture in the common ancestor of two sister hare species · 2026 · DOI

• Most subpopulations had decreased genetic variation but limited evidence of inbreeding despite small island size.

  How small is too small? Genetic signatures from naturally small populations of a large island vertebrate, the Turks and Caicos Rock Iguana · 2026 · DOI

• From this spectrum, we built a codon transition matrix and show that genes vary widely in their propensity to mutation based on codon composition, likely reflecting large differences in their contributions to V m .

  The rate and spectrum of germline mutations in chicken from a commercial pedigree line · 2026 · DOI

• However, these processes are poorly understood in perennial herbaceous species forming a dominant group of temperate flora.

  The Late Quaternary climate impact on the genome of the woodland strawberry (Fragaria vesca), a perennial herb · 2026 · DOI

• Recent meta-analyses suggest that habitat loss and fragmentation (HL&F) have negatively impacted the genetic diversity of species but very few studies have analyzed the consequences of HL&F on the spatial distribution of genetic diversity and on isolation by distance (IBD) patterns (i.

  The effect of habitat loss and fragmentation on isolation by distance and divergence · 2025 · DOI

• Despite its global significance in fodder production, the genetic potential of many regional accessions remains unexplored, limiting breeding efforts.

  Genotyping-by-sequencing derived SNP markers reveal genetic diversity and population structure of Dactylis glomerata germplasm · 2025 · DOI

• These findings will benefit the conservation and development of the species and provide a theoretical basis for further studies on its evolution and biogeography.

  Study on the characteristics of genetic diversity and population structure of a rare and endangered species of Rhododendron nymphaeoides (Ericaceae) based on microsatellite markers · 2025 · DOI

• Therefore, a further study on the genetic diversity and drivers of genetic pattern in U.

  Phylogeography and genetic diversity of Ulmus elongata (Ulmaceae), a Tertiary relict tree with extremely small populations (PSESP) · 2025 · DOI

• CONCLUSIONS: These results highlight the importance of climatic adaptation in shaping phenotypic diversity and suggest that future research should explore the genetic mechanisms underlying these traits and their interactions with environmental factors at finer spatial scales.

  Geographical variation and the role of climate and soil on phenotypic traits of Calamus rhabdocladus across provenances in China · 2025 · DOI

• However, the phylogeography and genetic diversity of wild population remain poorly understood.

  Deciphering the evolutionary imprints of Camellia oleifera Abel.: delineating its distinct phylogeographic structure and demographic history through microsatellite and plastid fragment · 2025 · DOI

• Although vegetation greening is well-documented through satellite observations, its impact on the populations and genomic integrity of affected species remains underexplored.

  Satellite-observed mountain greening predicts genomic erosion in a grassland medicinal herb over half a century · 2025 · DOI

• However, the genetic diversity of populations in Asia is poorly understood, leaving a notable gap in our knowledge of the global evolution and adaptation of this species.

  From sub-Saharan Africa to China: Evolutionary history and adaptation of Drosophila melanogaster revealed by population genomics · 2024 · DOI

• The adaptation is also driven by some rarely studied environmental factors, including wind speed and soil features.

  Genomic insights into local adaptation and vulnerability of Quercus longinux to climate change · 2024 · DOI

• The uncertain origin of E. tukula individuals. The lack of genetic information on E. tukula. The need to develop effective breeding programs for E. tukula.

  Genetic structure and selective signatures revealed by whole genome sequencing in potato grouper (Epinephelus tukula) · 2026 · DOI

• Further studies are needed to investigate the genetic diversity and population structure of E. tukula in other regions. The development of genetic improvement programs for E. tukula and other aquaculture species is needed. Further research is needed to understand the functional significance of the 184 development-related genes highlighted in this study.

  Genetic structure and selective signatures revealed by whole genome sequencing in potato grouper (Epinephelus tukula) · 2026 · DOI

• Overgrazing and climate change threaten the Mediterranean saltbush. Water deficit is a major stress for these plants. Conservation and breeding efforts are challenging due to the lack of knowledge about the genetic diversity of these species.

  Molecular Characterization of Jordanian Saltbush (Atriplex spp.) Accessions using Inter Simple Sequence Repeats Markers · 2026 · DOI

• There is a lack of knowledge about the genetic diversity of Jordanian Atriplex spp. Prior research has not fully addressed the conservation and breeding of these species.

  Molecular Characterization of Jordanian Saltbush (Atriplex spp.) Accessions using Inter Simple Sequence Repeats Markers · 2026 · DOI

• The study did not provide a comprehensive analysis of the ecological and socio-economic factors affecting genetic erosion. The sample size was limited to 180 genetic specimens. The study did not explore the potential applications of gene editing and cloning in conservation.

  Integrating Genomic Tools with Conservation Biology: A Framework for Managing Genetic Erosion in Endangered Mammals of Pakistan · 2026 · DOI

• The study identifies a gap in the application of genomic tools in conservation biology. The research highlights the need for interdisciplinary approaches to conservation. The study demonstrates the importance of incorporating genomic data into conservation strategies.

  Integrating Genomic Tools with Conservation Biology: A Framework for Managing Genetic Erosion in Endangered Mammals of Pakistan · 2026 · DOI

• The study identifies a gap in the understanding of the genomic variation and population structure of the seashore spatulate aster. The study aims to address the lack of knowledge on the taxonomy and nomenclature of the species.

  Patterns of genomic variation and population structure suggest the strong influence of allopatry between peninsular and island distributions of seashore spatulate aster on the Korean east coast region · 2026 · DOI

• Along with the recent developments in analytical approaches, we hope that our work, although limited to the Korean east coast region, can help improve the study of plant mainland‑island phylogeography, and of coastal species populations and lineages characterized by spatially discontinuous distributions.

  Patterns of genomic variation and population structure suggest the strong influence of allopatry between peninsular and island distributions of seashore spatulate aster on the Korean east coast region · 2026 · DOI

Most-cited papers in Genetic diversity and population structure

• Measurement of Diversity · Nature · 1949 · 10,761 citations
• Gene Flow and the Geographic Structure of Natural Populations · Science · 1987 · 3,046 citations
• Partitioning selection and complementarity in biodiversity experiments · Nature · 2001 · 2,941 citations
• Integrating common and rare genetic variation in diverse human populations · Nature · 2010 · 2,755 citations
• Genetics and Demography in Biological Conservation · Science · 1988 · 1,769 citations
• Geographic Patterns of (Genetic, Morphologic, Linguistic) Variation: How Barriers Can Be Detected by Using Monmonier's Algorithm · Human Biology · 2004 · 867 citations
• The “Out of Africa” Hypothesis, Human Genetic Diversity, and Comparative Economic Development · American Economic Review · 2013 · 707 citations
• Evolution of the germline mutation rate across vertebrates · Nature · 2023 · 385 citations
• Landscape Genetics · BioScience · 2008 · 348 citations
• Challenges in analysis and interpretation of microsatellite data for population genetic studies · Ecology and Evolution · 2014 · 346 citations

Most recent work

• Rapid evolution predicts demographic recovery after extreme drought · Science · 2026
• Escaping bottlenecks: The demographic path to genetic recovery in koalas ( Phascolarctos cinereus ) · Science · 2026
• Multiple chromosomal inversions modulate continuous local adaptation along a steep thermal cline · Science · 2026
• The Late Quaternary climate impact on the genome of the woodland strawberry (Fragaria vesca), a perennial herb · Communications Biology · 2026
• Blind genomic tree scans identify a single ancient multigene barrier to gene flow in Antirrhinum · bioRxiv · 2026
• Gap genes are involved in inviability in hybrids between Drosophila melanogaster and D. santomea · bioRxiv · 2026
• Increased rates of hybridization in swordtails are associated with water pollution · bioRxiv · 2026
• The Genetic and Morphological Basis of Local Adaptation to Elevational Extremes in an Alpine Finch · Ecology and Evolution · 2026
• Elevated recessive lethal frequencies drive hatching failure following near extinction in 'Alala, the Hawaiian crow · bioRxiv · 2026
• Pleistocene Sea‐Level Fluctuation Shapes Archipelago‐Wide Population Structure in the Critically Endangered Lord Howe Island Cockroach Panesthia lata · Ecology and Evolution · 2026

Related topics in Biochemistry, Genetics and Molecular Biology