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Abstract: Introduction: Skeletal dysplasia (SD) is a large and heterogeneous group of rare genetic disorders that affects bone and cartilage growth. These disorders are diagnosed based on radiographic, clinical, and molecular criteria. However, the diagnostics is challenging due to clinical and genetic heterogeneity. We present the experience of systematic use of comprehensive genetic testing in the national health system and the molecular epidemiology of SD in Slovenia. Methods: We retrospectively reviewed 470 patients with clinical features of SD, including prenatal, childhood, and adult patients referred for diagnostic genetic evaluation to the national genetic reference center over ten years. In 262 patients, whole exome or whole genome sequencing was performed, while direct gene sequencing was performed in 208 patients with a specific clinical diagnosis. Results: A definitive genetic diagnosis using NGS was achieved in 50% (n=131) of patients. Among the positive cases, 49.61% initially presented with a nonspecific diagnosis of SD, and genetic testing contributed to establishing the diagnosis. Moreover, we demonstrated high genetic heterogeneity in our SD cohort with 66 distinct causative genes, resulting in different types of SD. In detail, we detected 132 causative variants, of which 29 were novel, which expanded the mutational spectrum of SD. Furthermore, pathogenic copy number variants (CNVs) were identified in 4.55% of the total number of variants, highlighting the importance of CNV analysis in expanding the yield of molecular diagnosis of SD. Conclusion: With the systematic use of WES and WGS, we have significantly improved the diagnostic yield of SD in the national health system and access to genetic testing. Moreover, we found significant genetic heterogeneity, and we report the genetic epidemiology of SD in the Slovenian population.
Keywords: CNV, copy number variants, NGS, next-generation sequencing, diagnostic yield, molecular pathology, prenatal diagnosis, rare genetic diseases, skeletal dysplasia
Published in DiRROS: 10.11.2025; Views: 531; Downloads: 262
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Abstract: The trans-Palearctic moth Phyllonorycter populifoliella (Lepidoptera: Gracillariidae) is a major pest of the North American Populus balsamifera and its hybrids widely planted as ornamentals in North Asia (i.e., the Asian part of Russia). We DNA barcoded Ph. populifoliella from distant geographical populations in Russia and analyzed them together with the data from eight European countries and India to estimate intraspecific variability and the haplotype richness in the Palearctic, and specifically in North Asia. Furthermore, using next-generation sequencing (NGS, Sequel platform, PacBio), we investigated larval and pupal remnants found in an old herbarium from the Nearctic, where P. balsamifera occurs naturally, to verify if any events of the moth introduction to this biogeographic zone happened in the past. Relatively high intraspecific variability in the COI gene of mtDNA, reaching 3.73%, was recorded in Ph. populifoliella. Overall, 30 COI haplotypes were defined in 83 specimens from the Palearctic, with a noticeable richness in North Asia (21 haplotypes). Using NGS, the remnants of 14 Phyllonorycter specimens dissected from up to 174-year-old herbaria from the Palearctic and Nearctic were sequenced, and four moth species were identified. Among them, there were three Palearctic species, Ph. populifoliella, Ph. pastorella (Zeller), and Ph. apparella (Herrich-Schäffer), and one Nearctic, Ph. nipigon (Freeman). No evidence of Ph. populifoliella introduction to North America was documented based on the examination of the herbarium dated 1850–1974. Three specimens of Ph. populifoliella identified from herbaria from Austria and Poland (dated 1879–1931) represented one haplotype (H7) known from the recent time. Overall, our study clarifies the modern range, provides insights into phylogeography, and defines the haplotype richness of the native leafminer outbreaking on the alien host. Furthermore, it underlines the use of old herbaria to explore the historical distribution of endophagous insect species.
Keywords: leafmining moth, alien host plant, DNA barcoding, NGS, intraspecific genetic variability, haplotypes, old herbaria, Asian part of Russia, Palearctic, Nearctic
Published in DiRROS: 18.02.2025; Views: 926; Downloads: 600
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Abstract: The ecological impacts of long-term (press) disturbance on mechanisms regulating the relative abundance (i.e., commonness or rarity) and temporal dynamics of species within a community remain largely unknown. This is particularly true for the functionally important arbuscular mycorrhizal (AM) fungi; obligate plant-root endosymbionts that colonize more than two-thirds of terrestrial plant species. Here, we use high-resolution amplicon sequencing to examine how AM fungal communities in a specific extreme ecosystem—mofettes or natural CO2 springs caused by geological CO2 exhalations—are affected by long-term stress. We found that in mofettes, specific and temporally stable communities form as a subset of the local metacommunity. These communities are less diverse and dominated by adapted, “stress tolerant” taxa. Those taxa are rare in control locations and more benign environments worldwide, but show a stable temporal pattern in the extreme sites, consistently dominating the communities in grassland mofettes. This pattern of lower diversity and high dominance of specific taxa has been confirmed as relatively stable over several sampling years and is independently observed across multiple geographic locations (mofettes in different countries). This study implies that the response of soil microbial community composition to long-term stress is relatively predictable, which can also reflect the community response to other anthropogenic stressors (e.g., heavy metal pollution or land use change). Moreover, as AM fungi are functionally differentiated, with different taxa providing different benefits to host plants, changes in community structure in response to long-term environmental change have the potential to impact terrestrial plant communities and their productivity
Keywords: arbuscular mycorrhiza, elevated CO2, long-term experiments, soil biodiversity, soil hypoxia, next-generation sequencing, NGS
Published in DiRROS: 28.02.2024; Views: 1591; Downloads: 1030
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