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Fetal chromosomal numerical abnormalities is a significant cause of pregnancy loss and birth defects. Ultrasound has emerged as a critical modality for fetal chromosomal anomaly screening due to its real-time capability, repeatability, and safety. However, its clinical application remains constrained by operator expertise variability and inconsistent image quality. The integration of artificial intelligence (AI) into conventional ultrasound has enabled the development of AI-based predictive models that overcome traditional screening limitations. These models demonstrate superior predictive performance compared to conventional methods while enabling simultaneous detection of rare chromosomal abnormalities. This review summarizes recent advances in synergistic applications of ultrasound and AI for fetal chromosomal aneuploidy prediction, comparatively analyzes the technical strengths and limitations of traditional versus AI-based predictive models, and discusses challenges including multicenter data standardization and model interpretability. These advancements provide novel directions for non-invasive precision prenatal screening.

To explore new ways to improve canine cloning efficiency, this study compared the effects of different concentrations and treatment times of glycolysis promoter PS48 and epigenetic modifiers (DNA methylase inhibitor RG108 and histone deacetylase inhibitor Scriptaid) on the developmental ability of canine-porcine interspecies somatic cell nuclear transfer (iSCNT) embryos. The results showed that (1) 5 μmol/L PS48 treatment on canine ear fibroblasts (cEFs) and canine adipose tissue-derived mesenchymal stem cells (cAd-MSCs) for 24 h significantly enhanced subsequent iSCNT embryo development. The cleavage rate, 4-cell stage rate and 8-cell stage rate of iSCNT embryos produced from PS48-treated cEFs were significantly higher than those of control iSCNT embryos (46.90±1.64% vs 13.30±1.61%, 32.30±1.55% vs 8.26±0.88%, and 10.62±1.68% vs 5.50±0.84%; P<0.05). The cleavage and 4-cell stage rates of iSCNT embryos generated from PS48-treated cAd-MSCs were significantly higher than those of control iSCNT embryos (49.51±3.00% vs 31.25±2.73%, 26.21±2.08% vs 15.18±1.58%; P<0.05). (2) Treatment of cEFs and cAd-MSCs with 20 μmol/L RG108 for 48 h had no significant effect on the developmental efficiency of iSCNT embryos. Treatment of cEFs and cAd-MSCs with 0 nmol/L, 400 nmol/L, 500 nmol/L and 600 nmol/L Scriptaid for 24 h had no significant effect on the developmental efficiency of iSCNT embryos. (3) Treatment of iSCNT embryos derived from two types of donor cells with 20 μmol/L RG108 significantly promoted their developmental competence (P<0.05). Treatment of iSCNT embryos derived from cEFs with 500 nmol/L Scriptaid for 16 h significantly increased their cleavage and 4-cell stage rates (23.08±2.94% vs 9.47±1.70%, 18.68±3.25% vs 6.32±1.07%; P<0.05). This study established some new methods that can significantly improve the developmental efficiency of canine-porcine iSCNT embryos, thereby contributing to the development and application of canine somatic cell cloning technology.

Historical migration activities have played a crucial role in the exchange and dissemination of populations and cultures, leading to significant cultural transformations in certain regions. Previous research has often focused on historical documents and archaeological materials, with less emphasis on integrating genetic evidence for a more comprehensive analysis. The Shengjizui cemetery, located in Bishan District, Chongqing, is characterized by its row-style stone chamber tombs and has yielded numerous burial artifacts and human remains. In this study, we conducted a comparative analysis of some of the burial artifacts unearthed from the Shengjizui cemetery with those from tombs in the same region and period, determining that the cemetery dates back to the mid to late Ming Dynasty. The results also revealed that the granary jar culture of the Shengjizui population was influenced by the Huguang region. Furthermore, the analysis of uniparental genetic markers from human bone samples indicated that the cemetery was likely a clan burial site predominantly featuring the paternal genetic lineage D1ala1a1b-Z31611, while the maternal lineage was more akin to the Han population in Southeastern China. By combining archaeological typological comparisons with historical literature, these findings suggest that the Shengjizui population was influenced by migration activities during the Ming Dynasty, providing valuable genetic evidence for the study of local and migration history in Southwest China.

As a canonical non-B DNA secondary structure, the G-quadruplex (G4) dynamically regulates core biological processes, including telomere homeostasis, DNA replication and gene transcription/translation-through its unique four-stranded conformation. The significant enrichment of G4 structures in regulatory regions, particularly promoter regions within mammalian genomes reveals their critical role in transcriptional regulation. In this review, we focus on the dynamic formation mechanisms and transcriptional regulatory functions of endogenous G4 structures, systematically elucidating their three molecular pathways in modulating gene expression: (1) orchestrating spatial assembly of transcription activation complexes; (2) dynamically regulating epigenetic modifications, includinghistone alterations and DNA methylation; (3) remodeling three-dimensional chromatin architecture to establish transcriptionally active microenvironments. By integrating advancements in G4 topological characterization techniques and dynamic equilibrium networks, this work highlights the role of the G4 as a critical cis-regulatory element and provides a theoretical framework for developing G4-targeted therapeutic strategies.

Mitochondria, as crucial organelles within eukaryotic cells, have their proteins and RNAs encoded by both the nuclear genome and the mitochondrial genome. They play vital roles in energy regulation, cellular metabolism, signal transduction, and various other physiological activities. Additionally, mitochondria interact with multiple organelles to collectively maintain cellular homeostasis. Mitochondria can also be transferred between cells and tissues through mechanisms such as migrasomes. Mitochondrial DNA (mtDNA) mutations often cause severe inherited rare diseases, characterized by tissue specificity, heterogeneity, multiple mutation sites, and challenges in achieving a complete cure. Gene editing of mtDNA holds promise for fundamentally curing such diseases. Traditional gene-editing nucleases, such as zinc-finger nucleases (ZFNs) and transcription activator-like effector nuclease (TALENs), as well as novel gene editors like DddA-derived cytosine base editors (DdCBEs), have been demonstrated to correct certain mtDNA mutations. However, CRISPR-based technologies-despite their superior programmability and efficiency-are currently limited due to the technical bottleneck of inefficient sgRNA delivery into mitochondria. This article systematically reviews the structure and function of mitochondria, related diseases, and the current state of mtDNA gene-editing therapies. Furthermore, it explores future directions for optimizing therapeutic tools to overcome the challenge of sgRNA delivery, thereby addressing the treatment barriers posed by pathogenic mtDNA mutations in inherited rare diseases.

Given the inherent complexity, hierarchical organization, and dynamic nature of living systems, there is no single best strategy for investigation, and priorities shift with the evolution of the life sciences. In the 1990s, two classic stories, The Salvation of Doug and The Demise of Bill, used automobiles as analogies and satire to contrast two research strategies: dismantling components to uncover underlying mechanisms, or applying functional perturbations to identify critical elements. These heuristic parables stimulated broad discussion on the respective strengths and limitations of different research approaches and continue to be widely used in teaching today. The life sciences have since entered an era integrating high-throughput, high-resolution, and multidimensional approaches, where single-path strategies can no longer provide deep, systematic insights into complex biological processes. We view the intrinsic features of living systems, such as modular organization, regulatory networks, nonlinear responses, and adaptive compensation, as factors that make any single approach likely to capture only local, static aspects, thereby hindering the reconstruction of systems-level, dynamic properties. Against this backdrop, we present a modern continuation of the two parables, reimagined in a contemporary setting and featuring two protagonists with symbolic Chinese names, "Zhiwei" (meaning "decoding hidden mechanisms") and "Sixu" ("reasoning through order"), who personify biochemical and genetic mindsets. In our narrative, the two protagonists transition from working independently to collaborating, integrating high-throughput experimentation, systems-level analysis, and computational modeling to uncover structural and operational principles underlying complex systems. We believe this retelling reflects the growing emphasis on systems-level and dynamic perspectives in biology, highlighting the value of methodological integration and innovation. We hope it will serve as a valuable resource for teaching in genetics and related disciplines, while fostering reflection on the enduring relevance of genetic reasoning in contemporary research.

The medicinal preparation of Chilobrachys jingzhao possesses various therapeutic properties, including anti-inflammatory, detoxifying, analgesic, and anti-edema effects. However, research on its genetic background and toxin mechanisms is held back by the lack of chromosome karyotype and genome data. In this study, we analyzed the karyotype of C. jingzhao using chromosome preparation techniques, estimated the genome size using flow cytometry and K-mer analysis, and performed genome sequencing and assembly using second- and third-generation single molecule real-time sequencing technologies. The results showed that C. jingzhao has a diploid chromosome number of 2n=68, with a karyotype formula of 2n=46m+18sm+4st and a chromosomal complement of 2n=10L+18M2+38M1+2S. Using Solanum lycopersicum and Trichonephila clavata as references, flow cytometry estimates the genome size at 7,775.49 Mb and 7,680.26 Mb, respectively. The 19-mer analysis also estimated the genome size to be 7,626.00 Mb, consistent with the flow cytometry results. Further analysis indicated that the genome of C. jingzhao has a high level of heterozygosity (8.45%) and a high proportion of repetitive sequences (67.10%), classifying it as an ultra-high heterozygous and high-repeat genome. The initial genome assembly of C. jingzhao was 8,804.93 Mb in size, with a contig N50 of 55.55 Mb and a BUSCO completeness score of 95.9%, indicating high assembly quality. This study first reveals the karyotype and genome information of C. jingzhao, offering crucial data for future research on its whole genome, toxin mechanisms, genetics, origin, evolution, and taxonomy.

Significant body size variations exist among different primate species. To investigate the genes influencing primate body size evolution, this study employed evolutionary genetics approaches to analyze functional differences and natural selection patterns of genes across species with distinct body sizes. Six primate species representing significant size variations were selected. Through comparative analysis of genome, molecular evolution and RNA-seq, Bcl-2 gene was detected and it has a significant impact on primate body size. Results demonstrated a positive correlation between Bcl-2 gene expression levels with body size, with differential natural selection observed among species of varying sizes. Population genetic analysis identified specific Bcl-2 SNP loci associated with body size evolution, and cellular experiments confirmed that this gene regulates osteoblast proliferation through pathways such as Wnt/β-catenin and BMP signaling. Multi-omics analysis further revealed that Bcl-2 expression increases with body size and exhibits significant selection signals and physicochemical property differences between species with substantial size variations. Functional studies indicated that Bcl-2 plays a crucial role in body size evolution by regulating skeletal development-related pathways. This study systematically reveals Bcl-2 as a key regulatory factor influencing primate adaptive body size evolution through processes such as apoptosis, skeletal development, and metabolism. From an evolutionary genetics perspective, it elucidates the molecular mechanisms underlying body size differences, providing new insights into primate body size evolution.

Short tandem repeat (STR) is a significant genetic marker for the identification of forensic DNA. DNA databases worldwide, including those in China, are established based on STR markers. Length- and sequence-based polymorphism are two features of STR markers. Sequence-based polymorphism includes polymorphisms in both repeat and flanking regions. Traditional capillary electrophoresis-based STR genotyping method can only profile length-based genotypes. However, a deep understanding of the sequence polymorphism of core STR loci is crucial for primer design and DNA identification. Firstly, single nucleotide polymorphisms and insertions/deletions in STR primer binding regions may reduce the affinity between primers and DNA templates, leading to allele dropout or poor interlocus balance, thereby impacting the accuracy of DNA identification. Secondly, sequence-based polymorphism can be unveiled by next-generation sequencing technology, which could significantly enhance the detectable polymorphic information of core STR loci and improve the efficiency of individual identification and kinship analysis. Thirdly, different populations exhibit distinct STR sequence characteristics. Over the past decade, studies on sequence-based polymorphisms of STR loci have increased alongside the application of next-generation sequencing technology, and sequence-based polymorphisms from multiple populations were reported. However, previously studied populations and data were scattered, and different formats of repeat region sequences were used in various studies. These limitations result in the absence of a systematic summary and analysis of sequence polymorphism for core STR loci, hindering its further application in forensic practices. A comprehensive understanding of core STR loci sequence characteristics is crucial for individual identification from trace DNA, deconvolution of mixed samples, and determination of mutation origins in paternity testing. In this review, we focus on 19 autosomal core STRs and systematically review the sequence polymorphisms of these loci based on population data reported in the literature. We summarize variations in repeat regions, analyze variation patterns, present high-frequency variations in flanking regions within the Chinese population, and discuss potential challenges encountered in STR sequence analyses, with the aim to provide a reference for the analyses and application of STR sequence, the identification of rare alleles in criminal case testing, and the development of STR genotyping panel.

Chromatin-associated RNAs (caRNAs), closely related to chromatin structure and functions, are a class of RNAs that interact with chromatin in cis, trans, or cis-trans cooperation modes, regulating gene expression and maintaining the orderly progression of cellular processes. N⁶-methyladenosine (m⁶A) is a ubiquitous and dynamically reversible epigenetic modification in eukaryotic RNAs, playing an important regulatory role in a variety of biological processes. m⁶A modification of chromatin-associated RNAs can regulate chromatin accessibility and gene expression at the transcriptional level, maintaining the normal functions of organisms. In this review, we summarize the mechanisms of m⁶A-modified caRNAs-chromatin interactions and their role in gene expression, with the aim of providing scientific basis and ideas for the analysis of the molecular mechanisms of gene transcriptional regulation.