Structural variant landscape provides insights into genome organisation and domestication in European seabass

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BackgroundStructural variants (SVs) are genetic polymorphisms including deletions, insertions, inversions, and duplications, with potential to influence traits through impacts on gene function and expression. SVs have not been widely utilized in genetic analysis, owing to the challenge of their accurate detection and genotyping. Addressing this general issue, and the broader demand to understand their role in commercially important taxa, we report a comprehensive analysis of SVs in the genome of European seabass (Dicentrarchus labrax), the most commercially important fish in the Mediterranean region.ResultsUsing whole genome sequencing from a farmed population (n = 90 samples), 21,428 SVs were identified using a comprehensive detection and genotyping strategy involving manual curation of every variant. This high-confidence SV atlas was annotated to predict impacts on genes and evolutionarily conserved sequences. We explored the overlap between SVs and repeats, identified heterogeneity in SV density across the genome, and tested if the coding genes disrupted by SVs are enriched for specific biological processes or conserved protein domains. SVs impacting evolutionarily conserved genomic regions were enriched in genes with nervous system and developmental functions. Finally, we performed a comparative analysis incorporating 38,408 high-confidence SVs identified independently for three wild populations (n = 80 samples) using identical methods. An analysis of 41,336 SVs merged across the two datasets provides insights into genes and biological functions targeted during aquaculture domestication, with evidence of shifts in allele frequency for SVs located within or near genes controlling behaviour, enriched for forebrain and synaptic functions, and specifically expressed in the brain.ConclusionsThis study sheds light on the global organisation of SVs across the European seabass genome, revealing a potential role in aquaculture domestication. The reported datasets provide a novel, high-quality reference for future genetic investigations of both farmed and wild European seabass.Supplementary InformationThe online version contains supplementary material available at 10.1186/s12915-025-02404-7.

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Wild and Hatchery Populations of Korean Starry Flounder (Platichthys stellatus) Compared Using Microsatellite DNA Markers
  • Dec 9, 2011
  • International Journal of Molecular Sciences
  • Hye Suck An + 4 more

Starry flounder (Platichthys stellatus) is an important sport and food fish found around the margins of the North Pacific. Aquaculture production of this species in Korea has increased because of its commercial value. Microsatellite DNA markers are a useful DNA-based tool for monitoring the genetic variation of starry flounder populations. In this study, 12 polymorphic microsatellite DNA markers were identified from a partial genomic starry flounder DNA library enriched in CA repeats, and used to compare allelic variation between wild and hatchery starry flounder populations in Korea. All loci were readily amplified and demonstrated high allelic diversity, with the number of alleles ranging from 6 to 18 in the wild population and from 2 to 12 in the farmed population. A total of 136 alleles were detected at the 12 microsatellite loci in the two populations. The mean observed and expected heterozygosities were 0.62 and 0.68, respectively, in the hatchery samples and 0.67 and 0.75, respectively, in the wild samples. These results indicate lower genetic variability in the hatchery population as compared to the wild population. Significant shifts in allelic frequencies were detected at eight loci, which resulted in a small but significant genetic differences between the wild and hatchery populations (FST = 0.043, P < 0.05). Further studies with additional starry flounder sample collections are needed for comprehensive determinations of the genetic varieties between the wild and hatchery populations. These microsatellite loci may be valuable for future population genetic studies, monitoring the genetic variation for successful aquaculture management and the preservation of aquatic biodiversity.

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Investigating the role of genetic variation in vgll3 and six6 in the domestication of gilthead seabream (Sparus aurata Linnaeus) and European seabass (Dicentrarchus labrax Linnaeus).
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Gene function conservation is crucial in molecular ecology, especially for key traits like growth and maturation in teleost fish. The vgll3 and six6 genes are known to influence age-at-maturity in Atlantic salmon, but their impact on other fish species is poorly understood. Here, we investigated the association of vgll3 and six6 in the domestication of gilthead seabream and European seabass, both undergoing selective breeding for growth-related traits in the Mediterranean. We analysed two different sets of samples using two different genotyping approaches. The first dataset comprised farmed and wild populations from Greece, genotyped for SNPs within the two genes ('gene-level genotyping'). The second dataset examined 300-600 k SNPs located in the chromosomes of the two genes, derived from a meta-analysis of a Pool-Seq experiment involving farmed and wild populations distributed widely across the Mediterranean ('chromosome-level genotyping'). The gene-level analysis revealed a statistically significant allele frequency differences between farmed and wild populations on both genes in each species. This finding was partially supported by the chromosome-level analysis, identifying highly differentiated regions may be involved in the domestication process at varying distances from the candidate genes. Noteworthy genomic features were found, such as a CpG island in gilthead seabream and novel candidate genes in European seabass, warranting further investigation. These findings support a putative role of vgll3 and six6 in the maturation and growth of gilthead seabream and European seabass, emphasizing the need for further research on their conserved function.

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Stochastic modelling of shifts in allele frequencies reveals a strongly polygynous mating system in the re-introduced Asiatic wild ass.
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Small populations are prone to loss of genetic variation and hence to a reduction in their evolutionary potential. Therefore, studying the mating system of small populations and its potential effects on genetic drift and genetic diversity is of high importance for their viability assessments. The traditional method for studying genetic mating systems is paternity analysis. Yet, as small populations are often rare and elusive, the genetic data required for paternity analysis are frequently unavailable. The endangered Asiatic wild ass (Equus hemionus), like all equids, displays a behaviourally polygynous mating system; however, the level of polygyny has never been measured genetically in wild equids. Combining noninvasive genetic data with stochastic modelling of shifts in allele frequencies, we developed an alternative approach to paternity analysis for studying the genetic mating system of the re-introduced Asiatic wild ass in the Negev Desert, Israel. We compared the shifts in allele frequencies (as a measure of genetic drift) that have occurred in the wild ass population since re-introduction onset to simulated scenarios under different proportions of mating males. We revealed a strongly polygynous mating system in which less than 25% of all males participate in the mating process each generation. This strongly polygynous mating system and its potential effect on the re-introduced population's genetic diversity could have significant consequences for the long-term persistence of the population in the Negev. The stochastic modelling approach and the use of allele-frequency shifts can be further applied to systems that are affected by genetic drift and for which genetic data are limited.

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Development and testing of a combined species SNP array for the European seabass (Dicentrarchus labrax) and gilthead seabream (Sparus aurata)
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