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Adaptation to seasonal drought in Arabis alpina is linked to the demographic history and climatic changes since the last glacial maximum.

Understanding how species adapt to new environments is a central goal in evolutionary biology, and a topical question in climate change research. Here, we sequenced the genomes of 426 individuals of the perennial, Arctic-alpine herb Arabis alpina to study demography and adaptation, with a focus on populations in Northern Spain, that experience warm and dry summers. Our inference supports a scenario in which A. alpina colonized Northern Spain in a range expansion event that started near the Alps around 216 thousand years ago (kya). During the last glacial episode (115 to 12 kya), this expansion proceeded westward, and effective population sizes were large across Europe, likely due to a larger suitable habitat for A. alpina. These ancient demographic events gave rise to a highly diverged genetic lineage in Northern Spain. In the present interglacial (between 12 kya and present), populations became increasingly fragmented, and lost genetic diversity across Europe. Furthermore, we detected signatures of selection at genes associated with responses to abiotic stress, including drought stress, and regulation of growth, for instance at SC5D and NAC055, which reflects the climatic changes since the last glacial period. Notably, an ancient polymorphism at the gene FRL1 emerged as a candidate for conferring variation in flowering behavior, and for contributing to adaptation to drought. Our study suggests that the combination of ancestral variation in flowering behavior, and positive selection on new mutations involved in drought responses, underlies the evolution of a new trait syndrome, and adaptation to climate change.

Droughts

Resolving taxonomic complexity in the genus Boechera (Brassicaceae) using the Boechera Microsatellite Website: a case study of the rare triploid B. bodiensis.

BACKGROUND AND AIMS: The genus Boechera (rock cress) comprises ∼75 sexual diploid taxa and >355 genetically distinct hybrid lineages, many of which reproduce asexually through apomixis. This complex reproductive landscape poses substantial challenges for taxonomy, similar to those encountered in genera such as Taraxacum, Hieracium, Poa and Rubus. The Boechera Microsatellite Website (BMW) offers an extensive database and analytical tools that are proving instrumental in resolving these difficulties. Here, we demonstrate the utility of the BMW through analysis of Boechera bodiensis, a rare and poorly understood species endemic to the western Great Basin of the USA. METHODS: First described as Arabis bodiensis by Rollins in 1982, this taxon is sparsely represented in herbaria and has long been considered a candidate for protection under the Endangered Species Act. However, its taxonomic identity has remained uncertain owing to morphological similarities with other 'Arabis' (Boechera) taxa. We integrate microsatellite DNA data from the BMW with morphological analyses to provide a clearer understanding of the taxonomic status, distribution and evolutionary origins of B. bodiensis. KEY RESULTS: Pollen studies reveal that B. bodiensis is a diplosporous apomict. Microsatellite genotyping of the holotype confirms it to be triploid, containing three subgenomes derived from Boechera cobrensis, B. fernaldiana and B. sparsiflora. Expanded microsatellite surveys detect this triploid genotype at 22 additional sites, primarily in Mono County, CA, USA. Morphological analyses of genetically verified specimens identify a consistent set of characters that distinguish B. bodiensis from co-occurring congeners. CONCLUSIONS: The BMW enables high-resolution analyses of genome composition, reproductive mode and hybrid origins, making it a powerful tool for resolving taxonomic complexity in Boechera. Our case study of B. bodiensis highlights the effectiveness of combining molecular and morphological data to clarify species boundaries, inform conservation assessments and refine nomenclatural understanding in this notoriously difficult genus.

Microsatellite Repeats

Prevalence, Species Diversity, and Molecular Characterization of Viruses Infecting Phlox (Phlox paniculata) from Botanical Gardens in Russia.

Phlox (Phlox spp., Polemoniaceae) are herbaceous ornamental plants that are cultivated around the world for their fascinating flowering. P. paniculata cultivar collections at the Tsitsin Main Botanical Garden and the Botanical Garden of Lomonosov Moscow State University (both in Moscow, Russia) were surveyed for virus diseases using high-throughput sequencing and RT-PCR. Twenty-seven plants with virus-like symptoms on the leaves were selected for analysis. Alfalfa mosaic virus (AMV), Arabis mosaic virus (ArMV), ArMV satellite RNA (satRNA), beet ringspot nepovirus (BRSV), BRSV satRNA, cucumber mosaic virus (CMV), Spiranthes mosaic virus 3 (SpiMV3), tobacco streak virus (TSV), and tobacco rattle virus (TRV) were identified. AMV and TSV were the most common viruses found in 22 and 25 out of the 27 samples tested, respectively. ArMV satRNA was detected in phlox for the first time, adding to the list of viruses infecting this crop. The nearly complete genomes of the detected viruses and satRNAs were assembled and characterized. The CMV and TRV genome sequences from phlox were first deposited in GenBank. Only RNA1 was detected in the TRV-infected 'Fligelleutenant Bolke' cultivar plant, suggesting that the so-called non-multiplying infection has been found for the first time in a plant species other than solanaceae.

Arabis mosaic virus

Precision Medicine in Transfusion-Dependent and Non-Transfusion-Dependent β-Thalassemia: Toward Personalized Diagnosis and Therapy.

β-thalassemia comprises a clinically heterogeneous group of disorders in which anemia severity, transfusion exposure, iron loading, and organ complications vary widely among individuals. This structured narrative review summarizes practical applications of precision medicine in transfusion-dependent thalassemia (TDT) and non-transfusion-dependent thalassemia (NTDT), with explicit attention to which strategies apply to each clinical category. Literature indexed in PubMed and Scopus from 2000 to 2025 was reviewed using terms related to thalassemia, precision medicine, magnetic resonance imaging (MRI), chelation tailoring, next-generation sequencing (NGS), fetal hemoglobin (HbF) modifiers, luspatercept, mitapivat, hepcidin, gene therapy, gene editing, and artificial intelligence (AI). Evidence was synthesized descriptively because interventions, outcomes, and populations were heterogeneous, and no pooled meta-analysis was performed. In TDT, precision care is centered on individualized transfusion planning, extended red-cell antigen matching, MRI-guided cardiac and hepatic iron monitoring, organ-directed chelation intensification, and selection of disease-modifying or curative approaches. In NTDT, precision care emphasizes accurate phenotype classification, MRI liver iron concentration, because serum ferritin may underestimate iron burden, selective chelation, surveillance for NTDT-specific complications, and individualized use of agents that improve anemia. Personalized chelation should include deferiprone, either alone or in combination, when cardiac iron is increased. Comprehensive molecular diagnosis should include HBB together with HBA1 and HBA2 assessment, while secondary and tertiary modifiers help explain phenotypic variability and complication risk. Hepcidin and growth differentiation factor 15 (GDF-15) are discussed as investigational biomarkers; transferrin saturation is not recommended for routine iron-overload assessment in thalassemia. AI currently has its strongest role in screening and diagnosis, whereas risk-stratification models remain exploratory. Equitable implementation requires standardized TDT/NTDT pathways, regional MRI and genomics access, longitudinal registries, and multidisciplinary interpretation.

Humans

Project Sickle Cure: A Prospective, International Observational Study of Hematopoietic Cell Transplantation for Sickle Cell Disease.

BACKGROUND: Sickle cell disease (SCD) is a chronic and life-limiting hemoglobin and systemic vascular disease. While over 1000 people have undergone hematopoietic cell transplantation (HCT) over the last 40 years, long-term disease-specific and health-related quality of life data are lacking. The American Society of Hematology 2021 Guidelines for SCD emphasized the need for more detailed registry data to inform patients and providers with decision-making and practice recommendations. PROCEDURES: In January 2021, the Sickle Cell Transplant Advocacy and Research Alliance (STAR) launched Project Sickle Cure (PSC). This multi-center, prospective study of patients who have undergone HCT for SCD includes baseline demographics and SCD-specific post-HCT outcomes, serial neurocognitive testing, health-related quality of life measures, health equity evaluations, a neuroimaging bank, detailed evaluation of neurologic status pre- and post-transplant, and chronic pain evaluation. A biorepository is in the planning stage of development. RESULTS: As of November 2025, 115 participants have enrolled at 18 STAR sites with enrollment ongoing. CONCLUSIONS: PSC is a STAR prospective study which will address a major gap in our understanding of outcomes post-HCT specific to SCD. WeDecide, a larger study comparing HCT health-related quality of life outcomes to those who receive non-transplant disease modifying therapy (NT-DMT) is in development, and PSC will provide the HCT comparator data. These data will also be highly relevant as other curative and transformative therapies, such as gene therapy, become more widely used.

Humans

Spatial Proteomic Profiling, a Novel Method for Detecting Diagnostic and Prognostic Proteins in Pediatric Sarcoma.

Pediatric sarcomas comprise approximately 10% of all childhood solid malignancies and are characterized by distinct genetic and proteomic alterations that have potential diagnostic, prognostic, and therapeutic significance. We have utilized digital spatial profiling (DSP) to identify protein expression in pediatric Ewing sarcoma (ES), Osteosarcoma (OS), Alveolar rhabdomyosarcoma (ARMS), and Embryonal rhabdomyosarcoma (ERMS), in association with clinical outcomes. Formalin-fixed, paraffin-embedded sections from a tissue microarray block containing eight ES, eight OS, five ARMS, and three ERMS cases were subjected to proteomic DSP on a GeoMx NanoString platform yielding information on expression of 580 proteins. Proteins related to epigenetic regulation, signaling pathways, and mesenchymal differentiation were broadly expressed across all tumor types. Tumor-specific protein profiles were defined based on highly expressed proteins. Differentially expressed proteins include Cyclin D1 in ES, S100A4 in OS and IKKi/IKKe in ARMS and ERMS. Immunohistochemical validation confirmed variable expression of H3K27me3 across the tumors, and elevated expression of Cyclin D1 in ES and S100 in OS. These findings underscore the utility of DSP as a high-resolution proteomic tool for the identification of clinically relevant biomarkers in pediatric sarcomas. The results provide a foundation for further investigation of candidate proteins with potential diagnostic, prognostic, and therapeutic applications.

Humans