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Journal of Heredity

Oxford University Press (OUP)

Preprints posted in the last 90 days, ranked by how well they match Journal of Heredity's content profile, based on 42 papers previously published here. The average preprint has a 0.03% match score for this journal, so anything above that is already an above-average fit.

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The first reference genome assembly of the Chilean sea fig (Carpobrotus chilensis)

Lee, H.; D'Antonio, C. M.; Yi, S. V.

2026-06-19 genomics 10.64898/2026.06.15.732467 medRxiv
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Carpobrotus chilensis (Chilean sea fig) is a coastal succulent of uncertain origin that has naturalized along the California coast, where it co-occurs and hybridizes with the invasive species, Carpobrotus edulis. Despite their ecological importance and widely supported hybridization, genomic resources for this genus remain scarce. Here, we present a draft genome assembly of C. chilensis generated from PacBio HiFi long reads. The assembled nuclear genome spans 981.7 Mb across 178 contigs. The contig N50 was 73.0 Mb, and BUSCO completeness was 96.3%. K-mer and SNP-based analyses indicate extremely low heterozygosity (3.4 x 10-), reduced genetic diversity in this population. The genome is highly repetitive, with 81.67% of the sequences composed of transposable elements, predominantly long terminal repeat (LTR) retrotransposons. Gene prediction identified 21,744 protein-coding genes, with BUSCO completeness of 95.8%. Comparative analysis with C. edulis identified 8,783 single-copy orthologous gene pairs, with a median synonymous substitution rate (dS) of 0.019, indicating low sequence divergence between the two species. This genome assembly provides a foundational resource for investigating the genomic basis of hybridization and invasion in Carpobrotus.

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Chromosome-level genome assembly and annotation of the threatened marbled teal (Marmaronetta angustirostris)

Ortego, J.; Lopez-Luque, R.; Backstrom, N.; Green, A. J.

2026-05-14 genomics 10.64898/2026.05.12.723956 medRxiv
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The marbled teal (Marmaronetta angustirostris) is a widely distributed but declining waterfowl species, classified as Near Threatened globally and Critically Endangered in Spain. Despite ongoing conservation actions, including ex situ management and population reinforcement programmes, the genomic consequences of long-term captivity, inbreeding, and patterns of functional genetic variation remain unknown due to the absence of a species-specific reference genome. Here, we present the first chromosome-level genome assembly for this species. The genome was generated using PacBio HiFi long reads and Omni-C data, yielding a 1.15Gb assembly with a scaffold N50 of 76.95Mb. A total of 97.16% of the assembly was anchored into 36 chromosome-scale scaffolds, including the Z and W sex chromosomes. BUSCO analysis recovered 99.2% of conserved avian genes. Gene prediction was performed using both ab initio and homology-based strategies, resulting in 16,048 protein-coding genes. This resource provides a foundation for genomewide analyses of inbreeding, demographic history, and adaptive variation, and will support evidencebased in situ and ex situ conservation strategies for this threatened species.

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Sustained multigenerational fitness benefits of natural immigration

Summers, J.; Cosgrove, E. J.; Bakley, T.; Barve, S.; Bowman, R.; Fitzpatrick, J. W.; Chen, N.

2026-05-14 evolutionary biology 10.64898/2026.05.13.724961 medRxiv
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The fitness of immigrants and their descendants determines the effectiveness of gene flow. Genetic incompatibilities or outbreeding depression can limit the spread of novel alleles, while highly fit immigrant lineages can hasten introgression. These fitness effects of gene flow can also differ between generations as immigrant and resident haplotypes recombine. Understanding the genetic factors that shape immigrant fitness over multiple generations is increasingly important as habitat fragmentation threatens populations by reducing genetic variation and leading to increased levels of inbreeding. Few studies have measured the multigenerational fitness of immigrant lineages, especially within populations that had histories of high gene flow. We used 33 years of life history and pedigree data on a population of Florida scrub-jays (Aphelocoma coerulescens) with historically high immigration to quantify the fitness of immigrants and their descendants. We compared the fitness of immigrants and residents as well as their resulting descendants (F1, F2, etc.) to determine the composite genetic effects responsible for fitness differences. We found evidence of additive benefits of immigrant ancestry and heterosis driven by non-additive effects that persists for multiple generations. These results are promising for conservation efforts aiming to increase connectivity and illustrate the complex dynamics that determine the rates of introgression in natural populations.

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Extremely low effective population size in a captive-bred population: partial mitigation through management practices

Lamarins, A.; Waples, R. S.; Piironen, J.; Primmer, C. R.

2026-05-12 evolutionary biology 10.64898/2026.05.12.724519 medRxiv
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1Effective population size (Ne) is a critical parameter for evaluating the evolutionary and persistence potential of endangered populations and for designing sustainable conservation strategies. Captive breeding and release programs are widely used across taxa to reduce risk of extinction when natural reproduction is insufficient or no longer possible, making it essential to assess their consequences. We used the case study of the landlocked Saimaa salmon (Salmo salar), one of the most critically en-dangered salmonid populations in Europe, with unique evolutionary significance due to its isolation from other populations since the last glaciation. Using long-term demographic data (1969-2024) from wild-caught founders of a captive breeding and release program, we estimated the effective population size under multiple scenarios of variance in reproductive success. Across scenarios, Ne ranged from 33 to 81 individuals, representing 32%-75% of the census size. Captive breeding practices aimed at equalizing parental contributions during fertilization and early life stages increased Ne by 12% compared to natural reproductive conditions. However, variation in survival after early developmental stages, typically beyond direct management control, remained a key determinant of Ne. Despite recent increases in the number of founders, the population remains genetically vulnerable due to historical bottlenecks. These results highlight that while captive breeding programs can partially mitigate genetic risks, their effectiveness depends critically on both controlled and uncontrolled sources of variance in reproductive success. Strengthening such programs may require combining breeding management with habitat restoration and, where appropriate, genetic rescue to ensure the long-term evolutionary potential of such unique and endangered populations.

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Historically Small Population Size Limits Purging of Deleterious Mutations in a Conservation-Reliant Species, the Kirtlands Warbler

Calderon, A. M.; Salis, A. T.; Toews, D. P. L.; Szpiech, Z. A.

2026-05-16 evolutionary biology 10.64898/2026.05.15.725193 medRxiv
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Strong population contractions can leave a persistent genomic legacy that can influence populations long after their demographic recovery. While bottlenecks facilitate the removal of strongly deleterious mutations, the effectiveness of purging may be limited in historically small populations. The Kirtlands warbler (Setophaga kirtlandii) is a rare North American songbird with an ancestrally small population. After narrowly evading extinction, they are one of few species that have been delisted from federal protections in the USA. Despite their recovery, a previous study showed evidence for recent inbreeding and a high burden of deleterious mutations that may have not been purged despite strong bottlenecks. Historical DNA offers a unique opportunity to understand the consequences of recent demographic declines on genetic diversity. Here, we use DNA from over 100-year-old museum specimens to estimate changes in genetic load in the Kirtlands warblers pre- and post-bottleneck. We validate our results with forward-in-time genetic simulations and explore how sample size and missing data can affect estimates. Both empirical data and simulations suggest a reduced ability to purge deleterious mutations in this historically small population. Our simulations also highlight that limited sampling design and data quality can constrain the ability to detect changes.

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Genetic Diversity and Population Structure of the Black-Footed Cat: Insights into Felis's Deadliest Predator

Grant, V. B.; Hunnicutt, K.; Schroeder, M.; Küsters, M.; Oppenheimer, J.; Banerjee, S.; Baczenas, J. J.; Petrov, D.; Bishop, J. M.; Lamberski, N.; Wilson, B.; Sliwa, A.; Shapiro, B.; Solari, K. A.; Aguillon, S. M.; Armstrong, E. E.; Schumer, M.

2026-06-02 evolutionary biology 10.64898/2026.05.29.728895 medRxiv
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BackgroundBlack-footed cats (Felis nigripes) are one of Africas least studied felines. The population dynamics and demographic history of this solitary species have not been well-described. Reports of ongoing decline of present-day populations resulted in the IUCN Red List categorizing the species as vulnerable to extinction. As populations decline and become isolated from each other, they become susceptible to strong genetic drift and inbreeding, which can lead to the accumulation of deleterious alleles and increased sextinction risk. However, the IUCN cited data deficiencies across the species range as a limitation in this categorization for black-footed cats. In cases where ecological surveys are lacking, range-wide population genomic surveys can improve our understanding of population dynamics. ResultsIn the first genomic study of free-roaming individuals, we sequenced whole genomes of black-footed cats (N=44) from across their distribution. To do so, we incorporated whole genome sequences generated from both modern biological samples and century-old museum specimens. We assembled a highly contiguous reference genome using a combination of PacBio HiFi data and publicly available Hi-C data and investigated the demographic history, population structure, and genetic diversity of wild black-footed cats. We found evidence of historical effective population sizes of [~]11,500 individuals, which is lower than estimates reported in other felid species. Consistent with modest historical population sizes, we found that present-day genome-wide diversity was low ({pi} {approx} 0.0004). However, despite low genetic diversity, we find that black-footed cat genomes do not harbor long runs of homozygosity. Simulation results indicate that low present-day genetic diversity may simply result from modest historical population size. However, other analyses point to evidence of a population contraction in the last 50 generations, which could contribute to future genomic erosion. We also compared genomic variation in populations across the range to evaluate patterns of population structure, finding evidence of higher genetic similarity between individuals in closer geographic proximity. ConclusionOverall, these results provide range-wide information about the demographic history and present-day genetic diversity of an understudied species. Together with analyses of population structure, we speculate that there may be greater connectivity between populations of black-footed cats than previously assumed. Our study underscores the utility of genomic data in providing insights into population dynamics for better conservation management.

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A Draft Male Genome Assembly of the Slipper Lobster (Thenus australiensis) Reveals an XY System and a Validated Diagnostic Marker for Monosex Aquaculture.

Tran Nguyen, A. H.; Ha, G.-H.; Tran, D.-P.; Le, N. T.; Glendining, S.; Fitzgibbon, Q.; Herzig, V.; Luu, P.-L.; Ventura, T.

2026-06-29 genomics 10.64898/2026.06.24.734161 medRxiv
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The slipper lobster (Thenus australiensis) is rapidly emerging as a high-potential species for commercial aquaculture. Because females exhibit superior growth characteristics due to less frequent moulting after sexual maturity, developing monosex breeding strategies is highly desirable for industry profitability. However, the lack of genomic resources and early sex-identification tools has hindered this development. Here, we report the first draft male genome assembly for T. australiensis, generated using a combination of whole-genome shotgun sequencing, DArT-seq, and multi-tissue transcriptomics. The curated assembly spans 0.913 Gbp with high functional completeness (93.0% BUSCO), providing a robust repertoire of 30,100 protein-coding genes. Through k-mer subtraction and population-level DArT-seq genotyping, we provide definitive evidence that T. australiensis utilizes an XX/XY sex-determination system. Crucially, by identifying male-specific structural variations within a neo-Y locus, we developed a diagnostic PCR assay targeting a male-exclusive sequence. This 171 bp marker achieved 100% accuracy in phenotypic sex identification across wild-caught populations. Ultimately, these foundational genomic resources, combined with a highly reliable molecular sexing tool, provide the critical framework necessary for early sex sorting, broodstock management, and the commercial advancement of monosex slipper lobster farming.

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A chromosome-level genome assembly of the Eurasian great grey owl, Strix nebulosa lapponica (Thunberg 1798)

Strand, M. A.; Steindal, I. A. F.; Ragnhildstveit, E.; Solheim, R.; Torresen, O. K.; Skage, M.; Ferrari, G.; Tooming-Klunderud, A.; Jakobsen, K. S.

2026-07-02 genomics 10.64898/2026.06.29.735218 medRxiv
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We present a chromosome-level genome assembly of a female great grey owl (Strix nebulosa lapponica). The assembly comprises two pseudo-haplotypes of 1554 Mb and 1242 Mb, with 83.2% and 91.4% scaffolded into 40 autosomal chromosomes, in addition to the W and Z sex chromosomes both placed in hap1. Assembly completeness is high (BUSCO 99.2% and 94.8%), with 18,493 and 17,279 annotated protein-coding genes for hap1 and hap2, respectively. This genome establishes a reference for investigating genetic variation and chromosome evolution in great grey owls. Compared with the previous S. nebulosa assembly, this assembly includes both sex chromosomes, separates regions that were previously collapsed, and resolves 82 chromosomes total. While larger chromosomes show broadly conserved synteny across owl assemblies, the recovery of additional conserved microchromosome-associated genes suggests that ONT reads improved resolution of the smallest chromosomes relative to HiFi-based assemblies.

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Long-term isolation and introgression shape the genomic distinctiveness of Rice's Whale

Aguilar-Gomez, D.; Robinson, J. A.; Kyriazis, C. C.; Kenfield, M.; Nigenda-Morales, S.; Vollmer, N. L.; Wilcox Talbot, L.; Kim, B. Y.; Hernandez, R. D.; Rosel, P. E.; Morin, P. A.; Lohmueller, K. E.

2026-06-19 genomics 10.64898/2026.06.15.732430 medRxiv
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Species complex demographic history, including population size changes, isolation and gene flow, shapes patterns of genetic variation and deleterious load. In small and declining populations, understanding these processes is critical for predicting inbreeding depression and extinction risk. The Rices whale (Balaenoptera ricei) is a newly described baleen whale species resident to the heavily industrialized Gulf of Mexico, with a current abundance estimate of 51 (95 % CI: 20-130) individuals, making it one of the most endangered baleen whales globally. Using whole-genome sequences from 25 individuals, we reconstructed the evolutionary and demographic history of Rices whale and assessed its genomic health. Our analyses reinforce its distinctiveness from Brydes whales, and suggest that Rices whale has persisted as a small and isolated population in the Gulf of Mexico for tens of thousands of years. Despite its long-term small effective population size, genomes show modest impacts of inbreeding, including few long runs of homozygosity. We detected a distinct pulse of introgression [~]350 years ago from a Brydes whale-like lineage that resulted in windows of elevated heterozygosity in Rices whale, though it did not alter the burden of deleterious variation. Forward simulations indicate that a recent population collapse to [~]100 breeding individuals places the species at high risk of future inbreeding and genomic erosion unless population growth occurs. These findings highlight that while gene flow can increase genetic diversity, demographic recovery is essential to mitigate long-term genomic risks, underscoring the importance of management actions that promote sustained population growth.

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Genomic Architecture, Differentiation, and Adaptation in Three Large Falcons

Wilcox, J. J. S.; Arca-Ruibal, B.; Boissinot, S.; Idaghdour, Y.

2026-05-24 genomics 10.64898/2026.05.21.726861 medRxiv
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Recent chromosomal rearrangements and divergence in large falcon species make them excellent foci for studies on evolution and genomic architecture. Here, we use high-coverage (44-74X) whole genome resequencing with 10X Genomics Linked-Reads to assess patterns of genomic divergence in peregrine, saker, and gyrfalcons and we link these to chromosomal type and chromosomal rearrangements. We first use admixture analysis and cross-coalescent MSMC2 to demonstrate distinct species boundaries between the large falcons and retrace their demography. We assessed genomic landscapes in terms of recombination rate, nucleotide diversity ({pi}), Tajimas D, autozygosity and Fst between saker and gyrfalcons: {pi} had higher values on smaller chromosomes and Fst had higher values on larger chromosomes. Recombination rate concealed other chromosome type effects on {pi} and Tajimas D but largely explained variation in Fst. We find 39 selective sweeps--some shared--across the falcons. However, only five candidate genes--mostly housekeeping genes--were implicated as targets of balancing selection across all falcons, with 4 of these shared between Hierofalco and three shared across all the falcons. Occurrence of selective sweeps and balancing selection were not enriched by chromosome type or in the context of chromosome fusions. Overall, our findings provide insights into divergence and adaptation in large falcons, and demonstrate an association of genomic architecture and chromosomal fusions with all population genomic indicators and metrics of differentiation between species. Significance StatementFalcons are culturally and commercially important birds that have undergone recent chromosomal rearrangement, providing a natural system for studies on chromosomal heterogeneities and evolution. By analyzing genomic variation across three large falcon species, we show that chromosome type and chromosomal fusions structure patterns of recombination, diversity, and divergence. Our findings highlight the importance of underlying genomic architecture to common forms of evolutionary inference and call attention to the role of chromosomal fusions in shaping falcon evolution.

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A songbird karyotype: cytogenetic confirmation of a migration-associated region rich in olfactory receptor genes.

Caballero Lopez, V.; Dedukh, D.; Ekman, D.; Kauzal, O.; Lundberg, M.; Odenthal-Hesse, L.; Proux-Wera, E.; Reifova, R.; Reif, J.; Altmanova, M.; Trifonov, V.; Bensch, S.

2026-05-07 genomics 10.64898/2026.05.04.721007 medRxiv
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The field of genetics of bird migration advances, driven by exponential refinements of sequencing and tracking technologies. In willow warblers (Phylloscopus trochilus), a complex repeat-rich region named MARB (Migration Associated Repeat Block) has recently been found to correlate with the routes taken by individual birds from Europe to their African wintering grounds. However, the genomic location of this region remains unknown. Here, we characterized MARB using a combination of approaches to understand how it evolved. We describe the region using long-read genome assemblies of two willow warbler subspecies (P. t. trochilus and P. t. acredula), two related species, the common chiffchaff (P. collybita) and the greenish warbler (P. trochiloides), and whole genome sequencing data from 76 willow warblers. Finally, we applied karyotyping and fluorescent in situ hybridization techniques on willow warbler spermatocytes to cytogenetically locate MARB. Due to the many repeats, we cannot order scaffolds in silico, but probe hybridization on the karyotype shows that MARB constitutes a single locus (~27.5 Mb) spanning most of the 11th largest chromosome in the willow warbler genome. Interestingly, the MARB regions of all species share several characteristics such as relatively high GC content (50%), a high density of specific repeat families and notably, more than 800 olfactory receptor sequences. Regions homologous to MARB may exist in several migrant bird genomes, though currently unassembled due to their complexity. Resolving these in species with similar migratory polymorphisms to willow warblers will be essential to determine whether MARB influences migratory behaviour across species.

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New chromosome-level haplotyped genome assemblies and annotation for the Japanese Quail (Coturnix Japonica)

Cabau, C.; Degalez, F.; Leroux, S.; Gourichon, D.; Serre, R.-F.; Vernette, C.; Donnadieu, C.; Iampietro, C.; Vandecasteele, C.; Pitel, F.; Klopp, C.

2026-05-14 genomics 10.64898/2026.05.12.724545 medRxiv
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The Japanese quail (Coturnix japonica) is a widely used model organism in developmental biology, genetics, and agriculture. Here, we present new, haplotyped, high-quality genome assemblies of the Japanese quail, generated using a combination of state-of-the-art sequencing technologies, including PacBio HiFi long reads, Oxford Nanopore sequencing, and Hi-C scaffolding. This assembly has a total length of 1.19 Gb, 80% of which is included in chromosomes, and is highly complete (BUSCO score aves_odb10: 97.3). Assembly metrics show a marked improvement in contiguity, with a significantly higher scaffold N50 and a lower number of contigs compared to the reference genome assembly. Remarkably, the assembly extends previously truncated chromosome ends, with 31 telomeres detected. In addition, we merged the existing Ensembl and Refseq annotations and obtained a combined set of 26,102 genes, of which 25,038 genes were successfully mapped on the improved assembly haplotype 1 (Cjap1.hap1). Together, these new genome assemblies and their enriched annotation provide a robust genomic framework for future research. They enhance our ability to investigate developmental processes, genetic and epigenetic inheritance, and host-pathogen interactions. Furthermore, they offer valuable insights for conservation genetics and sustainable breeding programs. This resource represents a critical step forward in leveraging the full potential of the Japanese quail as a model species in both basic and applied research.

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Integrating genomic and tagging data reveals spatio-temporal population structure in Northeast Atlantic European sea bass

Gagnaire, P.-A.; Woillez, M.; de Pontual, H.

2026-06-26 evolutionary biology 10.64898/2026.06.22.731647 medRxiv
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Understanding spatial and temporal connectivity among individuals with different migration strategies is essential for migratory ecology and effective conservation, yet it often requires integrating multiple data sources. In Northeast Atlantic European sea bass (Dicentrarchus labrax), electronic tagging has revealed partial migration, with both resident and long-distance migrants showing fidelity to summer feeding and winter spawning areas. However, the role of regional spawning-site philopatry in shaping migration patterns and stock connectivity remains unclear. Here, we combine reconstructed migration trajectories with genome-wide analyses of gene flow and recent relatedness in 708 individuals sampled from 10 French Atlantic locations. We identify a seasonally shifting genetic discontinuity between the Bay of Biscay (BOB) and Northern (NS) stocks, located off western Brittany during winter spawning and displaced northeastward into the central English Channel during summer feeding. Despite seasonal mixing in the English Channel, an association between individual genetic composition and spawning-site selection supports regional spawning-site philopatry. Analyses of long genomic segments shared identical-by-descent reveal substantially greater connectivity within stocks than between stocks, indicating that philopatry constrains effective gene flow despite seasonal mixing. Reanalysis of independent genomic data further shows that sea bass from the northern Atlantic range predominantly belong to the Northern stock. Together, these results show how seasonal movements reshape spatial genetic structure while maintaining demographic subdivision, with direct implications for fisheries management.

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Genomic evidence for facultative selfing in the cichlid fish Cyphotilapia frontosa

Uysal, M. E.; Souza-Costa, D.; Marks, A.; Indermaur, A.; Gessl, W.; Salzburger, W.; Barth, J. M. I.

2026-05-14 evolutionary biology 10.64898/2026.05.13.724898 medRxiv
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Organisms have evolved a remarkable diversity of reproductive strategies in response to environmental variations and selective pressures. Although most vertebrates do reproduce biparentally, rare alternative modes such as selfing (self-fertilization) and different forms of parthenogenesis exist, but remain poorly characterized. Here, we investigated an unusual reproductive event in the normally biparental cichlid fish Cyphotilapia frontosa, in which a female produced offspring in the absence of a male. Using whole-genome sequencing data, we analyzed whether reproduction occurred via selfing or parthenogenesis by comparing patterns of heterozygosity with those from a wild, genetically diverse C. frontosa family collected in Lake Tanganyika and a closely related inbred Ctenochromis benthicola family. The uniparental family exhibited reduced genetic diversity, elevated relatedness, and genome-wide patterns of homozygosity distinct from those expected under parthenogenesis or inbreeding, but consistent with self-fertilization. Our study provides rare genomic evidence of selfing in a vertebrate and suggests that such alternative reproductive modes may be overlooked rather than truly absent. These findings contribute to a broader understanding of how alternative reproductive strategies evolve in vertebrate lineages. SignificanceThe overwhelming majority of vertebrates reproduce sexually, requiring a male and a female to produce genetically distinct offspring. Yet, rare alternative modes involving only a single parent such as asexual parthenogenesis ("virgin birth") or self-fertilization challenge this paradigm. Among these, selfing is exceptionally uncommon and poorly studied in vertebrates. Here, we unveiled - based on genomic analyses - the reproductive strategy of a member of the extraordinarily diverse cichlid fish radiation in Lake Tanganyika that reproduced in captivity in the absence of a male. By comparing patterns of genome-wide heterozygosity with both wild and inbred reference families, we identified a rare case of selfing. This finding adds to the limited records of selfing in vertebrates and expands current understanding of reproductive diversity, highlighting the power of whole-genome sequencing to distinguish among alternative reproductive mechanisms.

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Characterizing the Small Non-Coding RNA Pathways in the Invasive Zebra Mussel (Dreissena polymorpha)

Hernandez Elizarraga, V. H.; O'Brien, L. G.; Ballantyne, S.; Gohl, D. M.

2026-07-11 genomics 10.64898/2026.07.10.737777 medRxiv
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The zebra mussel (Dreissena polymorpha) is an invasive species that causes extensive economic and ecological damage. Here, we identify and characterize the key components of the small RNA (sRNA) and RNA interference (RNAi) pathways in zebra mussels. Like other mollusks, zebra mussels have extensive microRNA (miRNA) and Piwi-interacting RNA (piRNA) machinery but lack or have modified canonical factors needed to produce small interfering RNA (siRNA). Specifically, the zebra mussel Dicer sequence displays substitutions in the conserved DEAD box motif that is required for substrate processivity, and this organism also lacks some attendant accessory factors such as R2D2. We sequenced the small RNA found in both isolated somatic tissue (adductor muscle) and whole animals (including germline), and identified both conserved and novel miRNA and diverse piRNA sequences, but few endogenous siRNAs. To determine whether their remaining sRNA machinery could still be co-opted to initiate gene silencing, we injected dsRNA targeting several genes into zebra mussel adductor muscle. The injected rpn8-targeting dsRNA reduced rpn8 mRNA levels and was processed into sRNA that resemble endogenous miRNAs and piRNAs. The levels of both sRNA types correlated with mRNA knockdown, suggesting that they may act together to initiate RNAi as seen elsewhere. dsRNA targeting other genes produced variable results suggesting that particular criteria may be needed to trigger an RNAi response in this assay. Our results characterize endogenous sRNA pathways in zebra mussels, establish that dsRNA can induce RNAi, and lay the groundwork for further optimizations to establish RNAi-based genetic manipulation tools for this damaging invasive species.

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Validated microsatellite markers for Gyrodactylus salaris: a toolkit for individual identification and genetic studies

Aisala, H.; Hansen, H.; Lumme, J.

2026-04-24 genomics 10.64898/2026.04.22.719836 medRxiv
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Microsatellite markers remain essential for individual-level genetic work in taxa where genome-wide methods are not yet routinely feasible due to extremely low DNA yields per specimen. In Gyrodactylus, even the most recent reference genomes have required pooling thousands of individuals, leaving a practical gap between genome-scale resources and individual-level analyses. Here we present a genome-informed microsatellite panel, developed by selecting single-copy loci with non-repetitive flanking regions and assembling all markers into a single multiplex PCR. Marker identity and performance were verified via amplification tests, Sanger sequencing, and cross-laboratory genotyping, confirming that the same samples generated identical fragment-size profiles in both laboratories. Long tandem repeats occasionally prevented exact repeat-count determination, yet allele-size classes were discrete and reproducible across replicates. The panel enables rapid individual identification and reliable strain and lineage assignment. It also offers a practical starting point for population-genetic and evolutionary studies that require individual-level data.

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Modelling and Inferring Large-scale Demographic Fluctuations in Structured Populations Through Simulations and PSMC-based Methods.

Steux, C.; Vishwakarma, R.; Sgarlata, G. M.; Mazet, O.; Tournebize, R.; Thebaud, C.; Goossens, B.; Chikhi, L.

2026-06-22 genomics 10.64898/2026.06.17.732814 medRxiv
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The climatic oscillations of the Quaternary have likely affected the demographic history of many species, and PSMC (Pairwise Sequentially Markovian Coalescent) has been widely used to investigate these histories. However, it is increasingly acknowledged that PSMC trajectories are difficult to interpret. First, they are influenced by connectivity changes, even without population size changes. Second, most PSMC curves exhibit a few humps when tens of cycles occurred during the Pleistocene. Finally, responses to ancient habitat change have been shown to be species-specific. To address these issues, we simulated structured populations where connectivity (or population size and connectivity) varied according to successive interglacial and glacial periods during the last 2.6 million years. We computed the IICR (Inverse Instantaneous Coalescence Rate), the function that PSMC estimates, and ran PSMC. We further varied the generation length and assumed that some species were positively or negatively affected by glacials. We found that the IICR carries information regarding the demographic oscillations, but that PSMC fails to recover it for times older than 300 ky. For the last 200 ky, PSMC was often able to reproduce qualitatively the demographic oscillations. We also tested SNIF (Structured Non-stationary Inferential Framework), which produced good results using the IICR curve as an input but not when using the PSMC curve. Altogether, our study suggests that the humps older than 300 ky in PSMC histories are unlikely to represent trends of population size or connectivity. However, improving the estimation of the IICR could potentially help reconstruct some of these past demographic changes.

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Highly contiguous reference genome assembly of the endangered Orces blue whiptail Holcosus orcesi

Pozo, G.; Cisneros-Heredia, D. F.; Barragan-Orbe, D.; Sanchez-Nivicela, J. C.; Arbelaez, E.; Torres, M.

2026-05-16 genomics 10.64898/2026.05.14.725226 medRxiv
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Holcosus orcesi, the Orces Blue Whiptail, is a Critically Endangered lizard endemic to the upper Jubones River basin in southern Ecuador. Restricted to a narrow elevational range within semi-arid Andean shrublands, it represents one of the few montane members of a predominantly lowland lineage. Here we present the first high-quality reference genome for H. orcesi, generated using Oxford Nanopore Technologies long-read sequencing. The assembly spans 1.68 Gb across only 91 contigs, with an N50 of 76.2 Mb and a BUSCO completeness of 96.8%, making it among the most contiguous and complete squamate genomes to date. Structural annotation predicted 25,682 genes, of which 85% showed homology to known proteins and 45% were assigned Gene Ontology terms. Repetitive elements accounted for 46.3% of the genome, with LINEs representing the predominant class. This genome provides a foundational resource for future evolutionary, comparative and conservation-genomic research of H. orcesi and other mountain reptiles, enabling studies of population genomics, local adaptation, and genomic erosion in isolated populations. By expanding the genomic representation of tropical montane reptiles, this work helps address longstanding phylogenetic and geographic gaps in global biodiversity genomics and provides a foundation for evidence-based conservation of H. orcesi and related taxa.

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Reinforcement influences the ability of cryptic female choice to exert conspecific sperm precedence in hybridizing Atlantic salmon (Salmo salar) and brown trout (Salmo trutta)

Hanley, C. P.; Wagle, R.; Lehnert, S. J.; Purchase, C. F.

2026-05-12 evolutionary biology 10.64898/2026.05.08.723816 medRxiv
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Conspecific sperm precedence via cryptic female choice is a post-ejaculatory selection process that reduces hybridization, and can be pronounced in sympatric species. In their native Europe, Atlantic salmon (Salmo salar) and brown trout (Salmo trutta) exert conspecific sperm precedence under heterospecific sperm competition, which is at least partially enabled by female reproductive fluid. We examined post-ejaculatory selection of both species in Newfoundland, Canada, where Atlantic salmon evolved in absence of brown trout, but now experience hybridization threats due to anthropogenic introductions. Using split-ejaculate and split-clutch in-vitro fertilizations we evaluated whether allopatric evolution has relaxed this selection in Atlantic salmon, and found that they had no ability to bias paternity towards conspecific males, whereas naturalized brown trout retained a strong ability to do so. Female reproductive fluid influenced this, as when fluid associated with a species eggs was swapped, hybridization increased. In the artificial situation of no female reproductive fluid during sperm competition, paternity changed dramatically, but sperm swimming performance did not predict it. Our findings contribute to understanding the evolution of cryptic female choice and how the mechanisms of reproductive isolation can be reinforced through sympatry, while also highlighting a new potential conservation concern for North American Atlantic salmon.

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A draft de novo assembly of Diadema antillarum, a keystone herbivore of the Caribbean reefs

Majeske, A. J.; Wong, J.; Farkas Pool, C.; EIRIN-LOPEZ, J.; Wolfsberger, W.; Schizas, N. V.; Diaz-Lameiro, A. M.; Castro-Marquez, S. O.; Hilkert, K.; Mercado Capote, A. J.; Oleksyk, T. K.

2026-05-27 genetics 10.64898/2026.05.24.727502 medRxiv
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5.6%
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We generated the first reference-level nuclear genome assembly of the keystone Caribbean long-spined black sea urchin species, Diadema antillarum (Philippi, 1845). Using whole-genome sequencing data from PacBio HiFi, Oxford Nanopore, and Illumina platforms, we employed multiple assembly strategies to generate a high-quality, near-complete genome. The final assembly spans 1.73 Gbp, consists of 2,964 scaffolds, and has an N50 of 1.56 Mbp. BUSCO analysis (metazoa_odb10) indicates 98.4% completeness. The genome displays a heterozygosity rate of 2.52% and contains 42.85% repetitive elements, of which 29.96% are unclassified. Coverage analysis reveals that while most of the genome was assembled at 11x depth, certain regions exhibit up to 530x coverage. Notably, regions exceeding 33x coverage account for 30.53% of the repetitive content, suggesting localized expansion of repeats. Duplication analysis of the assembled contigs shows that approximately 66% of contigs have duplicated, which supports segmental genome duplication in the past, and is further evidenced by the moderate level of heterozygosity of the assembly. While these characteristics contribute to the complexity of the genome, they do not diminish the quality of our assembly. Despite this complexity, our assembly maintains high completeness and contiguity. Our assembly provides a valuable resource for future genetic studies and serves as a critical framework for conservation, monitoring, and restoration of D. antillarum populations across the Caribbean.