Gene Reports最新文献

{"title":"Expression and significance of GAS6 and AXL in C57BL/6J mice with aldosterone-induced renal injury","authors":"Xin Zhang ,&nbsp;Nanfang Li ,&nbsp;Qing Zhu ,&nbsp;Wen Jiang ,&nbsp;Ting Wu ,&nbsp;Mei Yang ,&nbsp;Di Shen ,&nbsp;Wenbo Yang ,&nbsp;Mengru Wang ,&nbsp;Jing Hong","doi":"10.1016/j.genrep.2025.102354","DOIUrl":"10.1016/j.genrep.2025.102354","url":null,"abstract":"<div><div>The GAS6/AXL signalling pathway has been implicated in inflammation and tissue injury, but its role in aldosterone-induced renal damage remains unclear. This study investigated whether aldosterone regulates the expression of growth arrest-specific 6 (GAS6) and its receptor AXL in the kidney, and whether this regulation is dependent on mineralocorticoid receptor (MR) activation. Male C57BL/6J mice were treated with aldosterone, with or without the MR antagonists spironolactone or finerenone. Immunohistochemical analysis showed significantly increased expression of GAS6 and AXL in kidneys from aldosterone-treated mice compared with controls (<em>P</em> &lt; 0.01). AXL expression was positively correlated with MR, interleukin-1β, and CCL2 levels (<em>P</em> &lt; 0.05). Both spironolactone and finerenone treatment reduced the expression of GAS6 and AXL to near-control levels (<em>P</em> &lt; 0.05). These findings suggest that aldosterone stimulates renal GAS6/AXL expression via MR activation and that this pathway may contribute to renal inflammation.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102354"},"PeriodicalIF":0.9,"publicationDate":"2025-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145319928","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optimized delivery of dual-gRNA CRISPR/Cas9 via FolicPolySpermine nanoparticles for MHC class I elimination through B2M gene knockout","authors":"Hossein Jafari Khamirani ,&nbsp;Maryam Aghasipour ,&nbsp;Somayeh Khoddam ,&nbsp;Amirmasoud Shiri ,&nbsp;Hossein Heli ,&nbsp;Maryam Ranjbar ,&nbsp;Mahsa Jafari Khamirani ,&nbsp;Sina Zoghi ,&nbsp;Mehdi Dianatpour ,&nbsp;Seyed Alireza Dastgheib","doi":"10.1016/j.genrep.2025.102350","DOIUrl":"10.1016/j.genrep.2025.102350","url":null,"abstract":"<div><div>MHC class I molecules are expressed on the surface of all nucleated cells and play a significant role in graft rejection. <em>B2m</em>, the non-polymorphic constituent of the MHC class I molecule, is crucial to the structural integrity of the MHC class I. Targeting B2m using gene editing technologies to generate cells with minimal or no surface MHC class I expression is a promising strategy for addressing graft rejection. Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) technology is among the most effective approaches to editing genes, in vitro and in vivo, in a wide range of cell lines and species. However, delivery methods to transfer the CRISPR/Cas9 system to the cells can bring up challenges. In this study, we have deployed FolicPolySpermine nanoparticles based on spermine, polyethylene glycol, and folic acid for the transfection of two gRNAs targeting <em>B2m</em> and Cas9 into the HEK293T cell line. These nanoparticles were effectively transferred to the HEK293T cells, and we validated the expression and functionality of the CRISPR/Cas9 system within the cells. Moreover, we compared the efficiency of lipofectamine 2000 and FolicPolySpermine as delivery systems. FolicPolySpermine nanoparticle, as a biocompatible, safe, and efficient strategy, is useful in the transfection of CRISPR plasmids with high efficacy and precision into the target cells. Additionally, our study demonstrated that the use of dual gRNAs is a suitable approach for directly targeting and inducing predicted deletions at specific loci, which can be utilized for gene knockout purposes. All in all, our findings highlight the potential of FolicPolySpermine as a promising gene delivery method for the CRISPR/Cas9 system.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102350"},"PeriodicalIF":0.9,"publicationDate":"2025-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145264793","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Targeted inhibition of 7SK long non-coding RNA using Rn7SK-siRNA promotes gastric cancer cell proliferation and migration","authors":"Maryam Valizadeh-Otagsara ,&nbsp;Hassan Dariushnejad ,&nbsp;Vahideh Tarhriz ,&nbsp;Roya Fattahi ,&nbsp;Mozhgan Abasi","doi":"10.1016/j.genrep.2025.102349","DOIUrl":"10.1016/j.genrep.2025.102349","url":null,"abstract":"<div><h3>Background</h3><div>With a length of 331 nucleotides, Rn7SK small nuclear RNA (snRNA) is an extremely plentiful noncoding RNA (ncRNA). Multiple lines of evidence propose that Rn7SK snRNA controls RNA polymerase II transcription by regulating the positive transcription elongation factor b (P-TEFb) function. Previous researches has shown that Rn7SK is downregulated in some tumor cells. This investigation aimed to analyze the impact of the downregulation of Rn7SK expression via transfection of Rn7SK-siRNA on proliferation, migration, and spheroid formation in human gastric adenocarcinoma cells AGS. Also, the expression level of genes engaged in cancer cell proliferation and apoptosis was assessed.</div></div><div><h3>Results</h3><div>The obtained findings demonstrated that transfection of AGS cells with Rn7SK-siRNA increased their migration, proliferation, and spheroid formation. Besides, qPCR analysis revealed higher and lower expression levels of genes involved in proliferation and apoptosis, respectively, in Rn7SK-siRNA-transfected AGS cells.</div></div><div><h3>Conclusions</h3><div>Our result suggests that Rn7SK has a crucial role in the progression of human gastric cancer AGS cells, and applying effective strategies to overexpress Rn7SK might help with the efficient treatment of gastric cancer.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102349"},"PeriodicalIF":0.9,"publicationDate":"2025-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145265519","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigating polymorphism of Plasmodium falciparum msp1 and msp2 vaccine candidates reveals a high proportion of genetically diverse monoclonal infections in Cameroon","authors":"Loick P. Kojom Foko ,&nbsp;Joseph Hawadak ,&nbsp;Vineeta Singh","doi":"10.1016/j.genrep.2025.102348","DOIUrl":"10.1016/j.genrep.2025.102348","url":null,"abstract":"<div><h3>Background</h3><div>Antimalarial immunity is greatly modulated by the genetic structure of <em>Plasmodium</em> populations, which is an important hurdle to successful vaccine development.</div></div><div><h3>Methods</h3><div>Dried blood spots were collected from hospital patients living in four towns (Douala, Maroua, Mayo-Oulo, and Pette). Genomic DNA was extracted and used to genotype the merozoite surface protein 1 and 2 genes (<em>msp1</em> and <em>msp2</em>).</div></div><div><h3>Results</h3><div>K1 (76.3 %) and IC/3D7 (83.3 %) were the most frequently found <em>msp1</em> and <em>msp2</em> allelic types, respectively. The total number of genotypes was 24 <em>msp1</em> (11 K1; 8 Mad20; 5 RO33) and 43 <em>msp2</em> (29 IC/3D7; 14 FC27). Monoclonal infections were predominant: 68.4 % for <em>msp1</em> [K1 (46.1 %), Mad20 (18.4 %), and RO33 (3.9 %)], and 67.1 % for <em>msp2</em> [IC/3D7 (50.0 %), and FC27 (17.1 %)]. Individuals living in Pette had fewer chances to get <em>msp1</em>-related monoclonal infections than those living in Douala (OR = 0.22, <em>p</em> = 0.01). Regarding <em>msp2</em>, IC/3D7 and FC27 genotypes found in MI accounted for 58.6 % and 100 % of total IC/3D7 and FC27 genotypes found. No statistically significant association was found between MOI, age, parasite density, and geographical area.</div></div><div><h3>Conclusion</h3><div>This study reveals a high genetic diversity of <em>P. falciparum</em> infections, with a predominance of monoclonal infections.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102348"},"PeriodicalIF":0.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145216395","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genomic architecture of skeletal malocclusions: Implications for precision orthodontics - Narrative review","authors":"Katarzyna Chojnacka ,&nbsp;Marcin Mikulewicz","doi":"10.1016/j.genrep.2025.102347","DOIUrl":"10.1016/j.genrep.2025.102347","url":null,"abstract":"<div><h3>Background</h3><div>Genetic variants, particularly single-nucleotide polymorphisms (SNPs), have been linked to craniofacial growth, dentoalveolar development, and skeletal remodeling through core pathways that govern morphogenesis (e.g., FGF/FGFR, WNT/β-catenin, TGF-β/BMP, and the GH/IGF axis). Interethnic differences in allele frequencies and effect sizes indicate ancestry-specific architecture. Multiple candidate genes and loci related to skeletal Class II/III malocclusion have been reported across genome-wide association studies (GWAS) and candidate-gene analyses, including signals at GHR/IGF1, FGFR2, RUNX2, WNT3A, MSX1, and GLI2.</div></div><div><h3>Aim</h3><div>To collate and critically appraise current genetic evidence on skeletal malocclusions and to identify a functionally supported subset of SNPs relevant to precision orthodontic care. Given cohort heterogeneity and ancestry-specific effects, loci labeled as higher-confidence were prioritized when replication (where available), biological plausibility, and clinical association converged. Here, a functional SNP denotes a variant with experimental or expression evidence for a biological effect on gene regulation, protein function, or development.</div></div><div><h3>Methods</h3><div>Narrative review with a structured search of PubMed/Scopus (last search May 5, 2025). Two complementary approaches were applied: (i) an annotation table linking genotype, phenotype, putative mechanism, zygosity, and references; and (ii) an allele-phenotype matrix stratified by ancestry (Asian, European, admixed).</div></div><div><h3>Results</h3><div>Of approximately 95 reported SNPs screened, 38 met the predefined criteria (including replication where available, functional relevance to craniofacial development, and clinical association with prognathism and/or maxillary deficiency). Replication remains limited for several loci. The resulting set provides a pragmatic basis for risk stratification, not deterministic prediction. From this 38-SNP higher-confidence set, we selected an illustrative 11-SNP subset to prototype PRS-Ortho v1.</div></div><div><h3>Conclusions</h3><div>This narrative review synthesizes evidence from over 70 peer-reviewed studies and presents 38 functionally supported SNPs currently most relevant to craniofacial growth. These data support the personalization of diagnosis, treatment planning, and prognosis in precision orthodontics, while underscoring the need for multi-ethnic replication and prospective evaluation before routine clinical testing. An 11-SNP subset (PRS-Ortho v1) is provided as a prototype for illustrative, unweighted scoring.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102347"},"PeriodicalIF":0.9,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145216391","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exome sequencing reveals a novel de novo ARHGAP31 frameshift variant in a neurodevelopmental disorder: Structural and functional insights into RhoGAP domain loss","authors":"Jalal Gharesouran ,&nbsp;Mohammad Reza Asadi ,&nbsp;Samira Behroozi ,&nbsp;Maryam Rezazadeh ,&nbsp;Soudeh Ghafouri-Fard","doi":"10.1016/j.genrep.2025.102345","DOIUrl":"10.1016/j.genrep.2025.102345","url":null,"abstract":"<div><div>ARHGAP31 is a GTPase activating protein that inactivates Rac1 and Cdc42 by promoting their conversion from the GTP to GDP bound state. Pathologic variants in <em>ARHGAP31</em> are primarily associated with Adams-Oliver syndrome (AOS), a congenital disorder characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLDs), attributed to disrupted Rho GTPase signaling. In this study, exome sequencing and bioinformatic analysis were employed to investigate a 6-year-old male presenting with craniofacial anomalies (high palate, dental malalignment), developmental delay (motor and speech), and gastrointestinal dysmotility (feeding difficulties, constipation) notably without ACC or TTLDs. Trio exome sequencing revealed a heterozygous de novo frameshift variant in <em>ARHGAP31</em> (NM_020754.4:c.732del, p.(Met245Ter)), absent from population databases (gnomAD, dbSNP) and both parental genomes. In silico predictions (MutationTaster, SWISS-MODEL) suggested a pathogenic effect (probability: 0.99), with nonsense-mediated decay (NMD) and truncation of the RhoGAP domain critical for cytoskeletal regulation. The variant's proximal truncation site likely disrupts autoinhibitory regulation, enhancing RhoGAP activity and impairing Cdc42/Rac1 signaling. Despite parental consanguinity, the de novo variant highlights the diagnostic value of trio sequencing in consanguineous families. Moreover, until now only gain-of-function mutation of <em>ARHGAP31</em> was found to be associated with AOS, while this article reports a brand-new loss-of-function mutation. Overall, these findings support the existence of a novel ARHGAP31-related neurodevelopmental disorder distinct from AOS, expanding the allelic and phenotypic spectrum associated with this gene.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102345"},"PeriodicalIF":0.9,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145265510","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence and molecular characterization of carbapenem-resistant Pseudomonas aeruginosa and emergence of blaNDM gene","authors":"Samira Ahmadi Asli ,&nbsp;Shabnam Golbouy Daghdari ,&nbsp;Farzin Asghari-Sana ,&nbsp;Mohammad Sarkheili","doi":"10.1016/j.genrep.2025.102346","DOIUrl":"10.1016/j.genrep.2025.102346","url":null,"abstract":"<div><div><em>Pseudomonas aeruginosa</em> is a major cause of hospital-acquired infections, with increasing multidrug resistance. This study aimed to evaluate antimicrobial resistance patterns, assess phenotypic metallo-β-lactamase (MBL) detection, and investigate key resistance genes (<em>bla</em>_NDM, <em>bla</em>_IMP, <em>bla</em>_VIM, and <em>bla</em>_OXA-10) in clinical isolates. A total of 472 clinical samples were collected from three major hospitals in Urmia, Iran, resulting in the identification of 81 confirmed <em>P. aeruginosa</em> isolates. Antimicrobial susceptibility was tested using the disk diffusion method, and MBL production was assessed through four phenotypic tests (CDT-IPM, DDST-IPM, CDT-CAZ, and DDST-CAZ). Resistance genes were confirmed using both uniplex and multiplex PCR. The highest resistance was observed against cefoxitin (93.8 %) and meropenem (60.0 %), while colistin and amikacin remained the most effective agents. Among the phenotypic tests, DDST-IPM demonstrated the highest sensitivity (100 %), but showed limited specificity (57 %). CDT-IPM showed comparable specificity. In contrast, CDT-CAZ and DDST-CAZ exhibited lower specificity and variable sensitivity. PCR results showed that <em>bla</em>_OXA-10 was present in 85.7 % of carbapenem-resistant isolates, followed by <em>bla</em>_VIM (73.5 %), <em>bla</em>_IMP (53.0 %), and <em>bla</em>_NDM (38.8 %). The detection of colistin-resistant strains and the co-occurrence of multiple MBL genes raise concerns about treatment limitations and highlight the need for better diagnostics and resistance monitoring.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102346"},"PeriodicalIF":0.9,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145216513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A hypothetical link between FAHD1 and mitochondrial resilience?","authors":"Konstantin A. Wilhelmy ,&nbsp;Yana Rytchenko ,&nbsp;Alexander K.H. Weiss","doi":"10.1016/j.genrep.2025.102343","DOIUrl":"10.1016/j.genrep.2025.102343","url":null,"abstract":"<div><div>The mitochondrial enzyme FAHD1 may influence acetyl-CoA metabolism under certain conditions, although physiological relevance remains to be determined. This study explores the potential association between a naturally occurring FAHD1 variant with altered catalytic properties, that is statistically expressed in some long-lived species. Through comparative gene expression and metabolic pathway analyses in kidney, liver, and brain tissues, we examine whether this FAHD1 variant is associated with mitochondrial gene expression patterns indicative of metabolic adaptation. However, our conclusions remain exploratory and hypothesis-generating rather than definitive. The variant's altered catalytic properties might affect acetyl-CoA-related pathways, potentially influencing mitochondrial energy balance and biosynthesis, though <em>in vivo</em> physiological consequences remain unconfirmed. Given the exclusively transcriptomic nature of the data, no causal inferences can be drawn; the findings are exploratory and intended to generate hypotheses for future validation.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102343"},"PeriodicalIF":0.9,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145216397","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of CDH1 gene variant C > A (rs16260) with expression and treatment outcomes in cervical cancer patients receiving chemoradiotherapy","authors":"Shireen Masood ,&nbsp;Atar Singh Kushwah ,&nbsp;Kirti Srivastava ,&nbsp;Monisha Banerjee","doi":"10.1016/j.genrep.2025.102344","DOIUrl":"10.1016/j.genrep.2025.102344","url":null,"abstract":"<div><h3>Background</h3><div>The <em>CDH1</em> gene promoter variant C &gt; A (rs16260) is associated with downregulation of E-cadherin, which compromises epithelial integrity and has been linked to poor prognosis in various cancers. This study investigates the association of the <em>CDH1</em> C &gt; A variant with gene expression and its potential as a prognostic biomarker for cervical cancer in an Indian population.</div></div><div><h3>Methods</h3><div>This case-control study involved 107 cervical cancer patients and 96 age-matched healthy controls. Genotyping of the <em>CDH1</em> C &gt; A (rs16260) variant was performed using PCR-RFLP, and gene expression was analyzed through qPCR. Kaplan-Meier and Cox regression analyses were used to correlate genotypes and gene expression with treatment response and survival outcomes. Statistical analysis was conducted using QUANTO (v.1.2), GraphPad Prism (v. 10), SPSS (v. 25).</div></div><div><h3>Results</h3><div>The CA and CA + AA genotypes of the <em>CDH1</em> variant were significantly associated with cervical cancer risk (<em>P</em> = 0.011 and <em>P</em> = 0.004, respectively). <em>CDH1</em> gene expression was significantly downregulated in cervical cancer patients compared to controls (<em>P</em> = 0.023). While the CA genotype was protective against recurrence and treatment toxicity (<em>P</em> &lt; 0.001 and <em>P</em> = 0.050, respectively), the CC genotype was linked to increased toxicity and recurrence. CA genotype shows a trend toward better overall survival (median 27 vs. 19 months; HR &lt; 1), though not statistically significant (<em>P</em> = 0.079).</div></div><div><h3>Conclusion</h3><div>The <em>CDH1</em> C &gt; A (rs16260) variant may be a prognostic biomarker to predict toxicity and recurrence of cervical cancer, with implications for personalized treatment strategies. However, further studies in larger, more diverse cohorts are necessary to validate these findings.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102344"},"PeriodicalIF":0.9,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145109488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Phylogenetic structure and paternal migration history of Sichuan Bouyei people revealed by Y-chromosomal STRs","authors":"Guang-Yao Fan ,&nbsp;En-Na Wang ,&nbsp;Jia-Xin Han ,&nbsp;Xin-Ying Yu ,&nbsp;An-Ying Zheng ,&nbsp;Ying Zhu","doi":"10.1016/j.genrep.2025.102342","DOIUrl":"10.1016/j.genrep.2025.102342","url":null,"abstract":"<div><div>This study investigates the phylogenetic structure and demographic history of the Sichuan Bouyei people. Genetic profiles of 37 Y-chromosomal short tandem repeat (STR) loci among 425 Bouyei males from eight regions in Sichuan Province were analyzed. Along with published datasets, multidimensional scaling plots, principal component analysis, and phylogenetic reconstruction were conducted on both an Asia-wide and national scale. Genetic stratification in the studied populations was influenced by linguistic and geographic distribution patterns. Significant genetic differentiation was observed between two predominant Bouyei groups from the counties of Ningnan and Muli. Machine learning-based category prediction was performed among contemporary Bouyei and non-Bouyei individuals using the Linear Discriminant Analysis (LDA) method. The results of the LDA indicated a deep fusion between Tai-Kadai-speaking and Hmong-Mien-speaking populations. The timing of population differentiations was estimated using BATWING. Furthermore, the migration rate between the Sichuan Bouyei and other populations was inferred using coalescence theory in the Migrate-n program. The migration models and directions were evaluated, revealing gene flow of Bouyei people from the Sichuan Muli to Vietnam. The data presented here for the Sichuan Bouyei people will be useful in establishing a more comprehensive Y-STR database, and enrich our understanding of the patrilineal history of Tai-Kadai-speaking peoples in China.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102342"},"PeriodicalIF":0.9,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145104788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}