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  • Simple Sequence Repeat Loci
  • Simple Sequence Repeat Loci
  • Simple Sequence Repeat Markers
  • Simple Sequence Repeat Markers
  • Microsatellite Markers
  • Microsatellite Markers
  • Microsatellite Loci
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Articles published on Microsatellite

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  • New
  • Research Article
  • 10.3760/cma.j.cn511374-20251016-00610
Comparison of CNV-seq and chromosomal microarray analyses of abortive tissues
  • Jul 10, 2026
  • Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
  • Yadong Fu + 8 more

To compare the performance of copy number variation sequencing (CNV-seq) and chromosomal microarray analysis (CMA) for the analysis of abortive tissues. Tissue samples were collected from 396 patients with missed abortion who were treated at Yancheng Maternal and Child Health Care Hospital between January 2021 and July 2024. A retrospective analysis method was employed to gather relevant clinical data of the patients. 171 samples were detected by CNV-seq combined with short tandem repeat (STR) analysis, and 225 samples were detected by CMA. Differences between the two techniques, including the detection of chromosomal aneuploidies, structural aberrations [detection of CNVs of various lengths and different CNVs types], the types of chromosomal abnormalities across different ages and gestational weeks were comprehensively compared. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2024-LS-KYLX-010). Among the 396 samples, 256 cases were detected with chromosomal abnormalities, which yielded a detection rate of 64.6%. Among the 171 cases undergoing CNV-seq analysis, 107 (62.6%) were found with chromosomal abnormalities. Among the 225 cases undergoing CMA, 149 (66.2%) were found with chromosomal abnormalities. No significant difference was found between the two groups (Χ2 = 0.566, P > 0.05). Among the autosomal number abnormalities, trisomy 16 was the most common in both groups, followed by trisomy 22, and 45,X was the most common among the abnormal number of sex chromosomes. In cases of chromosomal structural abnormalities, the CNV-seq group detected 36 CNVs, while the CMA group detected 27 CNVs. In the comparison of CNVs between the two groups based on different genome lengths, when the genome length was 100 ~ 500 kb, the CNV-seq group detected more than the CMA group, there was a statistically significant difference (Χ2 = 4.974, P < 0.05). When the genome length was greater than 1 000 kb, the CMA group detected more than the CNV-seq group, there was a statistically significant difference (Χ2 = 5.24, P < 0.05). Compared to different types of detected CNVs, the CMA group detected more pathogenic CNVs than the CNV-seq group, there was a statistically significant difference (Χ2 = 10.176, P < 0.05), while the CNV-seq group detected more variants of uncertain significance (VUS) CNVs, there was a statistically significant difference (Χ2 = 9.625, P < 0.05). The comparison of two groups based on different types of chromosomal abnormalities shows that aneuploidy was the most common in both groups. The proportion of polyploidy abnormalities was higher in the CMA group than in the CNV-seq group, there was a statistically significant difference (Χ2 = 8.106, P < 0.05), and the proportion of chimerism was higher in the CNV-seq group than in the CMA group, there was a statistically significant difference (Χ2 = 6.888, P < 0.05). The comparison of chromosome abnormalities distribution by age group between the CNV-seq group and the CMA group showed no statistical significance in the four age groups of ≤ 24 years, 25 ~ 29 years, 30 ~ 34 years, and ≥ 35 years (P > 0.05). Comparison of chromosomal abnormalities detected in the two groups at different gestational weeks showed that the CNV-seq group had a significantly higher detection rate for the first 8 weeks than the CMA group (Χ2 = 8.419, P < 0.05), though no significant difference was found in the proportion of chromosomal abnormalities between the two groups for the 8 ~ 10 weeks, 10 ~ 12 weeks, and weeks after 12 (all P > 0.05). CNV-seq can detect chromosomal aneuploidies, mosaicisms and more VUS. The combination of CNV-seq and STR analysis can effectively detect chromosomal polyploidy. CNV-seq requires low sample quality and genomic DNA content while achieving high success rates. In the clinics, combined CNV-seq and STR analysis can serve an effective tool for genetic diagnosis of miscarriage tissues.

  • New
  • Research Article
  • 10.1016/j.forsciint.2026.112941
Internal validation of the Mini25A system: The six-dyes labelled kit for forensic degraded samples.
  • Jul 1, 2026
  • Forensic science international
  • Xiaoye Jin + 5 more

Internal validation of the Mini25A system: The six-dyes labelled kit for forensic degraded samples.

  • New
  • Research Article
  • 10.1007/s00425-026-05056-1
Comparative chloroplast genomics of Verbenaceae: structural divergence, adaptive evolution, and phylogenomic insights.
  • Jul 1, 2026
  • Planta
  • Zishuo Wang + 10 more

The present study established a chloroplast genomic foundation for Verbenaceae phylogenetics and reveals natural selection as the primary force that governs codon usage evolution. Species within Verbenaceae family hold considerable medicinal, economic, and ornamental value, and play critical roles in maintaining ecosystem biodiversity. Despite these multifaceted applications, comprehensive studies on their chloroplast genome characteristics, codon usage patterns, and evolutionary dynamics remain limited. Here, we sequenced and assembled the complete chloroplast genomes of Verbena bonariensis, Glandularia tenera, and Verbena officinalis, and conducted comparative analyses with eight additional Verbenaceae species. All 11 species exhibited the typical quadripartite structure, with genome lengths ranging from 149,869 to 155,079bp and GC contents varying between 38.23% and 39.25%. Collinearity analysis revealed highly conserved synteny across species. Phylogenetic reconstruction supported a close evolutionary affinity between Verbena and Glandularia. Codon usage bias analysis indicated a preference for A/U-ending codons, with each species exhibiting 29-30 codons with RSCU > 1. Effective number of codons (ENC) analysis suggested weak codon usage bias across all species. Simple sequence repeat (SSR) analysis identified 46-80 SSRs per species, predominantly mononucleotide repeats, primarily located in noncoding regions. ENC-GC3s, parity rule 2 (PR2), and neutrality analyses collectively indicated that natural selection is the predominant force shaping codon usage patterns. Selection pressure analysis further revealed pervasive strong purifying selection (Ka/Ks < 0.5) across most genes. Together, our findings provide an important genomic foundation for phylogenetic reconstruction, molecular evolution, and genetic resource utilization within Verbenaceae.

  • New
  • Research Article
  • 10.1007/s00414-026-03761-w
A cloud-based solution for managing next-generation sequencing data to comprehend forensic population statistics.
  • Jul 1, 2026
  • International journal of legal medicine
  • Kornkiat Vongpaisarnsin + 3 more

Next-generation sequencing (NGS) technology has revolutionized forensic DNA analysis by increasing sensitivity to detect low amounts of DNA, expanding throughput capacity, allowing multiplexed marker panels, and improving sequencing resolution. However, the diversity of marker types and the complexity of report formatting have made managing and utilizing genetic statistics for large volumes of NGS data challenging. To address these challenges, advancements in bioinformatics tools and data management systems are essential. Implementing a public database can facilitate more effective popular statistics, ultimately enhancing the application of NGS in forensic investigations. We introduce “diversID,” a forensic DNA database ( https://www.diversid.org ) focused on autosomal STRs (short tandem repeats), X- and Y-chromosomal STRs, and identity SNPs (single nucleotide polymorphisms). The database software provides comprehensive population statistics, including allele frequencies, Hardy-Weinberg equilibrium, heterozygosity, and more. Making use of cloud computing, diversID simplifies data upload and download processes to improve user convenience while maintaining the highest data quality through stringent filtering criteria. To further enrich the database’s value, we invite researchers to encourage global collaboration. We believe that collective efforts will continually refine and advance this invaluable resource, thereby benefiting the field of forensic DNA analysis.

  • New
  • Research Article
  • 10.1007/s13258-026-01776-6
Expanded SSR profile database for forensic discrimination and phylogenetic analysis in cultivars of spring orchid (Cymbidium goeringii).
  • Jul 1, 2026
  • Genes & genomics
  • Kyung Suk Lee + 4 more

Cymbidium goeringii is one of the most widely cultivated and traded ornamental orchids in East Asia. Due to its high horticultural value and phenotypic variability, accurate cultivar identification is essential but challenging, as their flowers bloom only briefly in spring. We have developed a forensic tool for rapid and exact cultivar discrimination by applying 12 simple sequence repeat (SSR) profiles in C. goeringii. This study was performed to establish an expanded SSR dataset for cultivar identification and phylogenetics in C. goeringii. We examined a total of 6,051 samples from 269 cultivars, including 92 Korean cultivars with ≥ 10 samples each. Among these, representative combined genotypes (CG1) were determined, and their frequencies (CG1%) were used to assess genetic concordance among samples. Phylogenetic trees were constructed using both Euclidean and codominant genetic distances, and cultivar distributions were visualized using Principal Coordinate Analysis (PCoA) and t-SNE. Approximately 72.8% of the samples matched their dominant combined genotype (CG1), suggesting that nearly 30% of cultivated orchids may exhibit genotype discordance. Phylogenetics and PCoA showed a weak or no correlation between phenotypes, while they revealed relatively clear clustering between Korean and Japanese origins. These results highlight the value of integrating multiple analytical methods to enhance interpretability. The expanded SSR genotype dataset presented here offers a robust resource for cultivar identification, verifying genotype concordance, phylogenetic analysis, and ecological genetics research. This study will be an important milestone in the forensic application of plants with diverse cultivars exhibiting a wide range of horticultural and commercial values.

  • New
  • Research Article
  • 10.3389/fevo.2026.1869488
Population genetic structure and diversity of Dendrocalamus longispathus in its native range of North East India
  • Jul 1, 2026
  • Frontiers in Ecology and Evolution
  • Rajendra K Meena + 7 more

Introduction Genetic diversity and population structure are critical for understanding species distribution, environmental adaptability, and responses to anthropogenic disturbances. Dendrocalamus longispathus , a commercially and ecologically important bamboo species in North East India, remains understudied in terms of its population genetics. This study aims to assess the genetic diversity and structure of this species across its natural range in Mizoram and Tripura. Methods Leaf samples were collected from 12 populations and analyzed using 13 polymorphic simple sequence repeat (SSR) markers. Genetic diversity parameters, including number of alleles, allelic richness, heterozygosity, and inbreeding coefficients, were estimated. Population structure was examined using Bayesian analysis, Neighbor-Joining method based genetic clustering, and principal coordinate analysis (PCoA). Results The analysis revealed moderate genetic diversity, with mean number of alleles (Na = 2.84), effective alleles (Ne = 1.87), and expected heterozygosity (He = 0.362). Observed heterozygosity (Ho = 0.234) was lower than expected, indicating inbreeding, supported by a positive inbreeding coefficient (F IS = 0.306). Populations from Mizoram exhibited higher allelic richness compared to those from Tripura. AMOVA showed that 70% of genetic variation occurred within populations and 30% among populations (F ST = 0.297), indicating very high levels of genetic differentiation with low gene flow (Nm = 0.86). Bayesian analysis identified three genetic clusters (K = 3), with most populations clearly structured except one admixed population. Overall, pattern of genetic clustering between population was largely aligned with geographic proximity. Discussion The findings indicate moderate genetic diversity, very high genetic differentiation, and robust genetic structure in D. longispathus populations, with evidence of limited gene flow and inbreeding. These results highlight the need for targeted conservation strategies and the use of genetically diverse populations for plantation and sustainable management programs.

  • New
  • Research Article
  • 10.1007/s00425-026-05052-5
Comparative plastome analysis reveals structural variation, selection, and phylogenetic relationships in Verbascum species.
  • Jul 1, 2026
  • Planta
  • Motahareh Akbari + 1 more

The chloroplast genomes of Verbascum speciosum and V. sinuatum reveal lineage-specific structural variations and hypervariable loci (ycf3_1-trnS-GGA, rps15, matK) that serve as powerful markers for species identification. Signatures of positive selection in ndhB, ycf3, and ycf4 suggest adaptive evolution in plastid genes, while phylogenomic analyses confirm that plastome-scale data are essential for resolving species-level relationships in this medicinally valuable genus. The genus Verbascum (Scrophulariaceae) is both species-rich and notoriously difficult to classify, with many members valued for their medicinal properties but hampered by vague morphological boundaries and a lack of reliable molecular data. To address this, we sequenced and assembled the complete chloroplast genomes of two Iranian medicinal species, Verbascum speciosum and Verbascum sinuatum. The two plastomes measured 153,325bp and 153,038bp, respectively, each containing the typical quadripartite structure and 131 genes. Comparative work uncovered lineage-specific shifts at the inverted repeat boundaries, most notably involving the rpl23 gene, as well as clear differences in simple sequence repeat abundance, with V. sinuatum showing far fewer SSRs than its relative. Scanning across the genomes, we identified several hypervariable spots (rps15, rps16, matK, ycf1, and even some tRNA genes) that could serve as useful barcoding markers. While most coding regions are under strong purifying selection, we found signs of positive selection at specific codon sites within ndhB, ycf3, and ycf4. Phylogenomic analysis using whole plastome data strongly supported the monophyly of Verbascum and confidently placed both new species within the genus. In contrast, standard single-locus barcodes failed to resolve species-level relationships. This work provides the first complete cp genomes for these two species and demonstrates that plastome-scale data offer a real step forward for untangling Verbascum systematics, identifying informative markers, and guiding future taxonomic work.

  • New
  • Research Article
  • 10.1002/jsfa.70617
Genomics-assisted pyramiding of sugary1 and shrunken2 genes for enhancement of kernel sucrose in sweetcorn hybrids.
  • Jul 1, 2026
  • Journal of the science of food and agriculture
  • Rashmi Chhabra + 9 more

Sweetcorn, owing to its kernel sweetness, has emerged as a crop of choice for its diverse usage worldwide. A large number of sweetcorn cultivars with a recessive shrunken2 (sh2) or sugary1 (su1) genes are available globally. However, a limited number of double-recessive (su1su1sh2sh2) sweetcorn hybrids with enhanced kernel sweetness are available. We introgressed su1 into the parental inbreds of two widely cultivated sh2-based sweetcorn hybrids - PSSC-1 (PMI-SWT019 × PMI-SWT020) and PSSC-2 (PMI-SWT016 × PMI-SWT017), using genomics-assisted breeding. Foreground selection was successfully undertaken in BC1F1, BC2F1 and BC2F2 generations using SuDel36 and SNP_AG1 markers specific to su1 and sh2 genes, respectively. Both genes segregated according to the Mendelian inheritance pattern, with few exceptions. Background selection using 100-114 simple sequence repeats facilitated recovery of >90% of the recurrent parent genome across crosses. Introgressed inbreds (su1su1sh2sh2) possessed 438 g kg-1 sucrose and 74 g kg-1 phytoglycogen over 261 and 52 g kg-1, respectively, among original versions. Reconstituted sweetcorn hybrids also possessed significantly higher sucrose (439 g kg-1) and phytoglycogen (77 g kg-1) over original hybrids (sucrose: 255 g kg-1; phytoglycogen: 55 g kg-1), amounting to 72% and 40% enhancement, respectively. The dehusked cob yield of new sweetcorn hybrids were at par with their original versions. Improved sweetcorn hybrids possessed similar agronomic and DUS (distinctness, uniformity and stability) characters comparable to the original versions. These su1su1sh2sh2 hybrids offer significant commercial value for fresh consumption, catering and processing markets to meet evolving consumer preferences for sweeter, high-quality sweetcorn, as their higher sugar levels enhance taste and consumer appeal, thereby increasing market demand and income opportunities for farmers. © 2026 Society of Chemical Industry.

  • New
  • Research Article
  • 10.1111/1556-4029.70398
A novel relationship between time offsets in capillary electrophoresis and DNA sequence variations in short tandem repeats.
  • Jun 30, 2026
  • Journal of forensic sciences
  • Damani Johnson + 2 more

Next-generation sequencing (NGS) provides increased discriminatory power in forensic DNA analysis due to the detection of isoalleles. Differences in sequences between alleles allow for a second layer of differentiation between DNA contributors beyond the number of short tandem repeat (STR) repeat units. However, because NGS is a more time and resource-intensive analysis than conventional capillary electrophoresis (CE), laboratories may benefit from indicators that suggest NGS is likely to provide added value. This study examined whether CE migration offsets, measured as residuals in the OSIRIS analysis software, can differ significantly among STR isoalleles. Residuals represent the time offset between a sample allele peak and its corresponding allelic ladder peak. Paired CE and NGS data from 95 single source samples were analyzed for CE-based residual differences, as the NGS data provided the sequence information of the corresponding isoalleles. Residual values differed significantly among isoalleles at several STR loci. Statistically significant differences were identified at D16S539 and D3S1358, as well as at specific allele lengths within D12S391, D13S317, and D8S1179. These findings demonstrate that CE residual variation can reflect underlying STR sequence differences between contributors. In practice, residual-based metrics could help laboratories to identify casework reference samples where NGS is likely to provide additional discrimination, without the need for processing outside of a routine CE workflow. Due to the potentially large number of isoalleles, community wide efforts to aggregate CE residual differences versus isoallele sequences may be useful in the validation and implementation of this approach to add value to forensic DNA analyses.

  • New
  • Research Article
  • 10.1186/s12870-026-09358-0
Assembly and characterization of the first complete mitochondrial genome of Epimedium sagittatum (Sieb. et Zucc.) Maxim (Berberidaceae):an invaluable traditional Chinese medicine.
  • Jun 29, 2026
  • BMC plant biology
  • Yihui Gong + 5 more

Epimedium sagittatum (Sieb. et Zucc.) Maxim is an invaluable traditional Chinese medicine plant known for its properties of tonifying kidney yang, strengthening bones and muscles, and dispelling rheumatism. The chloroplast (cp) genome of E. sagittatum have been sequenced, offering critical insights for breeding and phylogenetic research. However, the mitochondrial (mt) genome of E. sagittatum remains uncharacterized, limiting comprehensive insights into its genomic evolution. In this study, we assembled the first complete mt genome of E. sagittatum employing Illumina and Nanopore sequencing technology and subsequently investigated comparative analysis with its closely related species. The mt genome of E. sagittatum was assembled as a multi-branched structure with a length of 339,191bp, within a GC content of 46.91%. Our annotation results have shown 39 protein-coding genes (PCGs), 22 tRNA genes, three rRNA genes and four pseudogenes in the E. sagittatum mt genome. The analysis of sequence repeats has detected 79 simple sequence repeats (SSRs), 10 tandem repeats and 255 dispersed repeats in the E. sagittatum mt genome. A total of 720 C to U RNA editing sites of the 34 PCGs was predicted in E. sagittatum. The codons exhibited a strong preference for A or U bases in the E. sagittatum mt genome. The analysis of nucleotide diversity (Pi) highlighted differences in genetic variability across the tested genes, with atp9 gene exhibiting the highest genetic variation. Selection pressure analysis showed that most genes were affected by negative selection during evolution, whereas ccmB, rps10, and rps12 underwent positive selection in different plants. Additionally, a Bayesian phylogenetic tree showed that E. sagittatum was closely related to E. wushanense and E. pubescens. In total of 14 homologous fragments totaling 8,954bp were identified between the cp and mt genomes of E. sagittatum. This study presents the first assembled and annotated mt genome of E. sagittatum, which provides a valuable genetic resource for the Epimedium genus and lays the foundation for investigating the phylogenetic relationship and genetic variation of this invaluable medicinal plant.

  • New
  • Research Article
  • 10.1007/s00438-026-02479-z
Genetic landscape of the Brahmin population of Gujarat, India, using X-chromosome STR markers.
  • Jun 29, 2026
  • Molecular genetics and genomics : MGG
  • Ankita Arunrao Fulkar + 5 more

X-chromosome Short Tandem Repeats (X-STR) have been utilized in forensics and population genetics studies for more than two decades, particularly in cases involving complex kinship analysis, disaster victim identification, sexual assault, and incest. Nevertheless, the genetic landscape of India remains underexplored using X-STR markers. In the present study, blood samples of 420 unrelated participants (133 females and 287 males) were analyzed from the Brahmin community of Gujarat, India. For the amplification of X-STR loci, the Investigator® Argus X-12 QS Kit was utilized. 186 unique alleles were identified, suggesting high genetic diversity of the Brahmin population. Locus DXS10135 (PIC = 0.930) was the most polymorphic, and locus DXS7423 was the least polymorphic (PIC = 0.553). On analyzing the haplotype diversity, Linkage Group-1 (LG1) was found to have the highest haplotype diversity (0.997). Notably, LG1 was also the most informative and polymorphic linkage group (PIC = 0.994), preceded by LG4 (PIC = 0.989), LG2 (PIC = 0.988), and LG3 (PIC = 0.983). Based on the allelic and haplotype frequencies, the combined estimates for PDF, PDM, MECDesmarais, MECKishida, MECKruger, and MECDesmarais duo were ≥ 0.999, demonstrating high discriminatory power of all the loci. Furthermore, inter-population phylogenetic analysis revealed high genetic affinity of Gujarat's Brahmins with other populations of the Indian subcontinent, encompassing Madhya Pradesh's Bhil tribe and Punjab's Jat Sikh. The Gujarat Brahmins also have a shorter genetic distance with other South Asian populations, including the Bangladeshi population. This research indicates that the studied X-STR markers are highly polymorphic, offering significant insights for individual identification in forensics.

  • New
  • Research Article
  • 10.1071/fp24276
Integrating molecular and phenotypic traits to evaluate drought stress responses in chickpea (Cicer arietinum) genotypes.
  • Jun 26, 2026
  • Functional plant biology : FPB
  • Rajitha Sistu + 3 more

Chickpea (Cicer arietinum) is a nutritionally valuable legume crops; however, its productivity is significantly constrained by drought stress. This study aimed to evaluate morpho-physiological traits and molecular response of chickpea genotypes under well-watered (control) and drought conditions to identify drought-tolerant lines. Plants of 83 chickpea genotypes (55-60days old) were subjected to drought by withholding irrigation until soil moisture dropped 20-40%. Key physiological and agronomic traits such as relative water content (RWC), membrane stability index (MSI), chlorophyll content, yield parameters, drought tolerance efficiency (DTE),and drought susceptibility index (DSI) were measured. Data analysis was performed using R software for pairwise distance, correlation, Principal Component Aanalysis (PCA), and heat mapping. PCA explained 53.8% of the total variability, effectively separating genotypes based on stress response. Additionally, simple sequence repeat (SSR) markers were used to evaluate genetic variability. Genotypes SAGL19008 and SAGL162380 showed higher RWC, MSI,and chlorophyll content under drought, while genotypeICC4958 exhibited the highest DTE (101.19%) and the lowest DSI (60.54%), indicating strong drought tolerance. The identified genotypes hold potential for incorporation into breeding programs aimed at improving drought resilience in chickpea, thereby contributing to food security and sustainable agriculture.

  • New
  • Research Article
  • 10.1097/pgp.0000000000001180
HPV-independent Squamous Cell Carcinoma With Choriocarcinomatous Differentiation in Uterine Cervix: Case Report With Molecular Characterization.
  • Jun 25, 2026
  • International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists
  • Lei Ye + 1 more

This report pertains to a rare case of cervical squamous cell carcinoma (SCC) with choriocarcinomatous (CC) differentiation in a 77-yr-old woman. The patient developed lung and mediastinal metastases 3mo after surgery and died at 5mo. Histopathologically, the tumor shows a mixed pattern of SCC and CCs. Both SCC and CC components showed a mutant-type p53 immunostaining and no high-risk HPV mRNA signals by RNAscope. PD-L1 was positive in SCC and CC, with a combined positive score of 10 and 90, respectively. Short tandem repeat analysis indicated identical alleles among CC, SCC, and the normal tissues. Targeted next-generation sequencing demonstrated high tumor mutational burden (>10 mutations/Mb) and 2 common driver mutations [TP53 (c.853G>A) and TERT (c.-146C>T)]. This is the first report of an HPV-independent cervical SCC with choriocarcinomatous differentiation, supporting a clonal origin with divergent differentiation, and suggesting comprehensive therapies combining immunotherapy and pathway inhibitors for this aggressive cancer.

  • New
  • Research Article
  • 10.1186/s12870-026-09318-8
Assembly and comparative analysis of the mitochondrial genome of Pleione yunnanensis: genome structure and evolutionary insights.
  • Jun 24, 2026
  • BMC plant biology
  • Jiamei Zheng + 6 more

Pleione yunnanensis a terrestrial or semi-epiphytic herbaceous plant belonging to the Orchidaceae family, is valued for both its medicinal uses and ornamental appeal. Although its chloroplast genomes have been sequenced, its complete mt genome had not previously been resolved, limiting genetic and evolutionary studies of the species. In this work, we assembled and characterized the first complete mt genome of P. yunnanensis, revealing a structurally complex, multibranched system composed of 14 circular-mapping molecules totaling 468,176bp with a GC content of 44.32%. The genome encodes 44 annotated genes, including 28 protein-coding genes (PCGs), 15 tRNAs, and one rRNA. The multibranched architecture provides new evidence supporting the dynamic and recombinational nature of plant mt genomes. Repeat analysis uncovered 29 simple sequence repeats (SSRs), 19 tandem repeats, and 118 dispersed repeats, indicating a comparatively lower repeat abundance than that found in closely related orchids with similar mt genome sizes. Codon-usage profiling of PCGs showed a marked bias toward A/T-ending codons. Prediction of RNA editing sites identified 4,708 putative edits across mitochondrial PCGs. Most mitochondrial genes displayed Ka/Ks ratios close to 1.0, suggesting relaxed selective constraints or lineage-specific evolutionary patterns rather than strong positive selection. Moreover, we detected 69 chloroplast-derived homologous fragments, including 15 intact genes, suggesting ongoing plastid-mitochondrial DNA transfer. Phylogenetic reconstruction and collinearity comparisons demonstrated that P. yunnanensis clustered closely with Dendrobium species, including D. amplum and D. hancockii, within the Orchidaceae clade. This study provides the first complete mt genome of P. yunnanensis, providing a foundational genomic resource for the genus Pleione. The results not only improve our understanding of mt genome structure and evolution in Orchidaceae, but also offer valuable molecular evidence for phylogenetic inference, germplasm identification, and conservation of this endangered medicinal species.

  • New
  • Research Article
  • 10.1007/s10815-026-03938-7
Identification of 46,XX/46,XY chimerism in a normal fertile male by low-pass copy number variation sequencing and NGS-based STR tests.
  • Jun 24, 2026
  • Journal of assisted reproduction and genetics
  • Yiming Sun + 6 more

To describe a rare case of a normal fertile male with the specific tissue distribution of 46,XX in the peripheral blood and gonadal chimerism confirmed by the novel next-generation sequencing (NGS) methodology. Cytogenetic analyses, low-pass copy number variation sequencing (CNV-seq) and NGS-based short tandem repeat (STR) tests. Routine peripheral blood karyotyping showed 46,XX. Fluorescence in situ hybridization (FISH) analysis of lymphocyte metaphase nuclei confirmed 46,XX and sex-determine region Y (SRY)-negative. Further CNV-seq revealed the presence of Y chromosome in the semen. NGS-based STR tests discovered low-level Y chromosome in the buccal mucosa and three alleles in the semen, suggesting that this chimerism is likely the outcome of a parthenogenetically activated oocyte fertilized by a Y and X sperm. The patient underwent intracytoplasmic sperm injection (ICSI) and resulted in a normal singleton pregnancy. Individuals with 46,XX/46,XY chimerism in the gonad can display normal phenotype and fertility. NGS has proved to be a promising alternative to conventional chimerism assays.

  • New
  • Research Article
  • 10.1038/s41598-026-42677-8
Genetic structure of Biscogniauxia mediterranea fungus populations in Zagros forests of Iran.
  • Jun 23, 2026
  • Scientific reports
  • Seyed Ali Asghar Hashemi + 3 more

Biscogniauxia mediterranea is an opportunistic fungal pathogen associated with charcoal canker disease in both juvenile and mature oak trees. This study investigated the genetic diversity, population structure, and pathogenic variability of B. mediterranea populations in the Zagros forests of Iran using inter-simple sequence repeat (ISSR) markers, with the goal of supporting effective forest disease management strategies. A total of 159 isolates were obtained from symptomatic oak trees in four ecologically distinct provinces: Fars, Ilam, Kermanshah, and Kohgiluyeh & Boyer-Ahmad. Genetic analyses revealed high genetic diversity and clear geographic structuring. Most genetic variation occurred within populations, while significant differentiation among regions was detected. Population structure analyses indicated the presence of major genetic groups associated with geographic origin, with additional overlapping patterns suggesting gene flow among regions. Pathogenicity tests confirmed that all tested haplotypes were capable of causing charcoal canker, with isolates from western regions exhibiting greater aggressiveness than those from the southwest. Overall, the findings indicate that geographic and environmental factors are associated with variation in both the population structure and pathogenic potential of B. mediterranea, providing guidance for targeted management of oak decline in the Zagros forests.

  • New
  • Research Article
  • 10.1094/pdis-02-26-0294-re
Population Structure of Aspergillus flavus in Hazelnuts from Azerbaijan: Genetic Diversity, Clonality and Biocontrol Implications.
  • Jun 23, 2026
  • Plant disease
  • Alessia Casu + 3 more

Aflatoxin contamination is a growing concern in hazelnut production across the Caucasus, particularly due to its health risks and the economic impact in markets with strict safety standards, such as the European Union. This study examined the genetic diversity and population structure of Aspergillus flavus, the main source of aflatoxin, in three key hazelnut regions of Azerbaijan: Zaqatala, Qabala, and Khachmaz. It also assessed the presence of genotypes genetically similar to known non-aflatoxigenic biocontrol strains using simple sequence repeat (SSR) markers. A total of 710 A. flavus isolates were analyzed using 17 SSR markers, revealing 377 distinct haplotypes and high genetic diversity across regions, seasons, and production stages. Linkage disequilibrium analysis indicated a primarily clonal reproduction pattern, suggesting that dominant genotypes may persist over time and that introduced non-aflatoxigenic strains could remain stable in the population. Among 477 clone-corrected isolates, several haplotypes closely matched the non-aflatoxigenic biocontrol strains MUCL54911 and AF36, which are the active ingredients of the commercial products AF-X1 and AF36 Prevail, suggesting that genotypes potentially suitable for aflatoxin biocontrol may already be present and adapted to the Azerbaijani hazelnut agroecosystem. These findings establish a genetic baseline for A. flavus in Azerbaijani hazelnut systems and support the potential use of MUCL54911 or AF36 for local biocontrol efforts aimed at reducing aflatoxin contamination.

  • New
  • Research Article
  • 10.1186/s12870-026-09292-1
SSR marker development for analysis of the genetic diversity and identification of species and infraspecific ranks in the genus Phyllostachys.
  • Jun 22, 2026
  • BMC plant biology
  • Dandan Kou + 6 more

Bamboo plants possess important ecological, economic, and cultural values. However, it is difficult to accurately identify them on the basis of their morphological traits alone. Here, based on the whole-genome data of moso bamboo (Phyllostachys edulis) and its 20 forms, we conducted preliminary identification and comparative analyses of simple sequence repeats (SSRs) to develop molecular markers. In total, 3,835,632 SSR loci were identified from 31,537.81Mb of genomic sequences, among which dinucleotide SSRs were the most abundant. Most SSRs were located in intergenic regions, whereas relatively fewer were in genic regions. In addition, we found that SSR-containing genes involved in plant hormone signal transduction may be associated with the morphogenesis of moso bamboo, which was speculated to be related to differential gene expression patterns among different forms. Furthermore, 206 SSR primer pairs with polymorphisms were obtained to analyse the genetic diversity of moso bamboo and its forms, which exhibited moderate polymorphism. The proportion of genetic variation among species within the genus Phyllostachys was 58%, while that within species was 42%. Moso bamboo and its 20 forms had relatively close genetic relationships and low genetic differentiation, while 20 species of the genus Phyllostachys were clustered into three groups with distinct levels of genetic diversity. Finally, DNA fingerprints and molecular identity cards were constructed for 20 moso bamboo forms and 20 species of the genus Phyllostachys using core SSR markers. These results provide novel SSR markers for bamboo identification, germplasm conservation, and molecular marker-assisted breeding.

  • New
  • Research Article
  • 10.1093/humrep/deag098
A large retrospective study on 1PN embryo transfer supports the need for updated harmonized best practice guidelines.
  • Jun 22, 2026
  • Human reproduction (Oxford, England)
  • Nicole O Mcpherson + 12 more

Do the genetic and clinical outcomes of monopronuclear blastocysts (MPBs) differ between standard insemination and intracytoplasmic sperm injection cycles, and what do these differences imply for risk stratification and individualized clinical decision-making? IVF-derived MPBs demonstrate significantly lower rates of uniparental inheritance than ICSI-derived MPBs (96.9% vs 65.9%) biparental inheritance (P < 0.001), with comparable clinical and neonatal outcomes to 2PN blastocysts following transfer of euploid biparental embryos. A proportion of monopronuclear (1PN) zygotes can develop into euploid blastocysts and, following transfer, result in healthy live births, yet these embryos are widely discarded following fertilization check due to atypical pronucleation. The mechanisms underlying 1PN formation are varied and include asynchronous pronuclear formation, early pronuclear fusion, and premature pronuclear breakdown, meaning a subset may represent normally fertilized diploid zygotes missed at static assessment. Retrospective cohort study of 1PN embryos (N = 13203) derived from IVF (n = 5266) or ICSI (n = 5464) inseminations across 10730 cycles performed at multiple Australian clinics between January 2010 and December 2023. Embryos were defined as 1PN by the appearance of a single pronucleus at fertilization check 16-18 h post-insemination. Time-lapse footage was reviewed on Day 3 to identify late appearing 1PNs and exclude late second pronucleus appearance. Suitable blastocysts underwent trophectoderm biopsy for pre-implantation genetic testing for aneuploidy (PGT-A) and short tandem repeat (STR)-based biparental inheritance testing; only euploid embryos with confirmed biparental inheritance were available for frozen embryo transfer. Outcomes assessed included ploidy, biparental inheritance, blastocyst development, utilization, morphokinetics, pregnancy, live birth, and maternal and neonatal outcomes. IVF-derived MPBs had similar aneuploidy rates to two pronuclei (2PN) embryos (37.3% vs 33.9%) and 440/454 (96.9%) demonstrated biparental inheritance. ICSI-derived MPBs had higher aneuploidy rates (45.5% vs 31.5%, P < 0.05) and only 108/164 (65.9%) had biparental inheritance. Uniparental inheritance was predominantly maternal (IVF 92.8%; ICSI 94.6%). Both IVF and ICSI MPBs were less likely to reach blastocyst stage by Day 5 than 2PN embryos (IVF 19.3% vs 63.3%; ICSI 9.7% vs 60.6%, P < 0.05), and biparental IVF-1PN zygotes were more likely to have more nucleoli compared with uniparental IVF-1PN zygotes (P = 0.008). For embryos with confirmed biparental inheritance, there was no significant difference in clinical pregnancy, ongoing pregnancy, live birth rates, or neonatal outcomes compared with 2PN blastocysts. In approximately one in six cycles containing a 1PN embryo, no utilizable 2PN embryo were available (IVF 15.6%; ICSI 16.7%), with the 1PN embryo representing the sole option for embryo utilization. Retrospective single-entity design introduces potential selection bias and limits generalizability. Uniform protocols across sites preclude the level of evidence required for formal guideline revision. Differential use of time-lapse imaging for ICSI versus static assessment for IVF embryos may contribute to differences in 1PN identification rates between fertilization methods. The STR-based biparental classification platform has not been validated against an orthogonal technology for parental origin calling in 1PN embryos, and the possibility of triploid misclassification or absorption into unreported inconclusive outcomes cannot be excluded. These findings support a risk-stratified approach to MPB management based on fertilization method. IVF-derived MPBs meeting specific morphological and developmental criteria demonstrate a low-risk profile that warrants reconsideration of genetic testing requirements and may inform individualized consent discussions, particularly where 2PN embryos are unavailable. ICSI-derived MPBs carry a substantially higher risk of uniparental inheritance and comprehensive genetic testing remains indicated. No funding was attached to this study. The authors declare no conflict of interest. N/A.

  • New
  • Research Article
  • 10.1016/j.ygeno.2026.111281
The large mitochondrial genome of Syndiclis anlungensis (Lauraceae): Genome structure, comparative analysis, and phylogenetic relationships with other Syndiclis species.
  • Jun 22, 2026
  • Genomics
  • Jurong Ma + 6 more

The large mitochondrial genome of Syndiclis anlungensis (Lauraceae): Genome structure, comparative analysis, and phylogenetic relationships with other Syndiclis species.

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