Molecular Genetics and Genomics最新文献_第2页

GSK343, an inhibitor of EZH2, prevents acquired cisplatin resistance in bladder cancer. EZH2抑制剂GSK343可预防膀胱癌获得性顺铂耐药。

IF 2.3 3区生物学

Molecular Genetics and Genomics Pub Date : 2025-06-23 DOI: 10.1007/s00438-025-02273-3

Liang He, Peng Liu

{"title":"GSK343, an inhibitor of EZH2, prevents acquired cisplatin resistance in bladder cancer.","authors":"Liang He, Peng Liu","doi":"10.1007/s00438-025-02273-3","DOIUrl":"10.1007/s00438-025-02273-3","url":null,"abstract":"Epigenetic alterations are emerging as a major driver of acquired cisplatin (CDDP) resistance in bladder cancer (BCa). The study investigated whether GSK343, an inhibitor of Enhancer of Zeste Homolog 2 (EZH2), can overcome CDDP resistance in BCa. CDDP-resistant T24 and 5637 cells were treated GSK343 (5, 10, or 20µM) for 48 h. Cell viability was assessed using CCK-8 assays, clonogenic survival using colony formation assays, migration capacity using wound healing (scratch) assays, invasion using Transwell assays, and apoptosis using flow cytometry. CDDP-resistant cells exhibited significantly higher EZH2 and H3K27me3 expression levels than parental T24 and 5637 cells. Treatment with 20 µM GSK343 markedly reduced EZH2 and H3K27me3 expression in resistant cells compared to vehicle control, with greater efficacy than lower concentrations (5 or 10 µM). Following 20 µM GSK343 treatment, resistant cells showed significantly reduced viability, fewer colonies, impaired migration, and decreased invasion compared to vehicle control. Furthermore, the apoptosis rate was significantly increased in resistant cells treated with 20 µM GSK343. The study demonstrates that GSK343 inhibits EZH2-mediated H3K27me3 and overcomes acquired CDDP resistance in BCa cells, suggesting its therapeutic potential for BCa patients with limited benefit from chemotherapy.","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"300 1","pages":"63"},"PeriodicalIF":2.3,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12185554/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144476067","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Chromosome scale assembly unveils genomic structure and gene families of Calotropis procera. 染色体规模组装揭示了大角鳄的基因组结构和基因家族。

IF 2.3 3区生物学

Molecular Genetics and Genomics Pub Date : 2025-06-23 DOI: 10.1007/s00438-025-02270-6

Hari Shankar Gadri, Sarbani Roy, Saneha Devi, Jigmet Chuskit Angmo, Vikas Sharma, Mohammed Asif Chowdhary, Rohini Dwivedi, Pankaj Bhardwaj

{"title":"Chromosome scale assembly unveils genomic structure and gene families of Calotropis procera.","authors":"Hari Shankar Gadri, Sarbani Roy, Saneha Devi, Jigmet Chuskit Angmo, Vikas Sharma, Mohammed Asif Chowdhary, Rohini Dwivedi, Pankaj Bhardwaj","doi":"10.1007/s00438-025-02270-6","DOIUrl":"https://doi.org/10.1007/s00438-025-02270-6","url":null,"abstract":"Calotropis procera (Akra, 2n = 22) is a fast-growing, fiber-producing, and climate-resilient, yet underexplored for domestication. The significant step forward in the domestication of this invaluable plant species marks the development of a reference genome. The study reveals a chromosome-scale genome that anchors 11 chromosomes, with a reference assembly spanning approximately 202.83 Mb. It contains few repetitive sequences, accounting for only 5% of the total genome. C. procera display a significant pair-orthology dN/dS ratio of nearly 0.2 to 0.25, indicating strong conservation, purifying selection, and resistance to harsh conditions. C. procera experienced phylogenetic relations with familiar sister genera divergent around 38.5 million years ago. The chromosomal structural rearrangement endured alterations throughout divergence due to a synteny interaction with the genomes of A. syriaca. The findings delve into the role of gene families in the adaptive evolutionary processes of C. procera. The study enhanced our comprehension of genome biology, the influence of gene families on adaptation. The genome research is invaluable and will significantly influence the future domestication of C. procera.","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"300 1","pages":"64"},"PeriodicalIF":2.3,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144476065","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Enhanced identification of novel pathogenic variants in hereditary hearing loss through physical phasing with integrated short and long-read sequencing data. 整合短读和长读测序数据，通过物理相位增强对遗传性听力损失新致病变异的识别。

IF 2.3 3区生物学

Molecular Genetics and Genomics Pub Date : 2025-06-23 DOI: 10.1007/s00438-025-02256-4

Lu Kang, Qian Zhang, Chao Wang, Jia Geng, Xinlei Li, Mingjun Zhong, Sihan Liu, Xuegang Wang, Yu Lu, Jing Cheng, Yongxin Ma, Fengxiao Bu, Huijun Yuan

{"title":"Enhanced identification of novel pathogenic variants in hereditary hearing loss through physical phasing with integrated short and long-read sequencing data.","authors":"Lu Kang, Qian Zhang, Chao Wang, Jia Geng, Xinlei Li, Mingjun Zhong, Sihan Liu, Xuegang Wang, Yu Lu, Jing Cheng, Yongxin Ma, Fengxiao Bu, Huijun Yuan","doi":"10.1007/s00438-025-02256-4","DOIUrl":"10.1007/s00438-025-02256-4","url":null,"abstract":"Haplotagged variant calling is essential for determining genetic etiologies in hereditary hearing loss (HHL) cases when familial testing is unavailable, and long-read whole-genome sequencing (lrWGS) enables this by outperforming in several key areas: enhanced detection of structural variations (SVs) and precise long-range haplotype phasing. In this study, we enrolled two HL cases from the China Deafness Genetics Consortium (CDGC) cohort, whose genetic tests were previously inconclusive due to a lack of pedigree segregation data. Small variants (including SNVs and InDels) profiles were generated by short-read whole-genome sequencing (srWGS), while SVs were identified and co-phased with small variants using a read-based approach. As a result, 87% and 83% of the chromosomal regions were successfully phased, and reached mean haplotype block lengths up to 661.9 kb and 309.9 kb, respectively. A total of 483 and 434 small variants, along with three and six heterozygous SVs in coding and splice regions of 201 HL-associated genes were phased. Pathogenic interpretations resolved compound heterozygosity in MARVELD2, identifying a pathogenic (P) variant NM_001038603.3:c.782G > A in trans with a novel pathogenic (P) deletion (NM_001038603.3:c.1183-1288_1503 + 195del). Additionally, we identified a known P variant NM_022124.6:c.5369-1G > A, which was oriented in trans with a P deletion NM_022124.6:c.-5-12_67 + 154del in the CDH23 gene. This study demonstrates the clinical utility of integrating srWGS and Nanopore lrWGS for comprehensive variant detection and haplotype determination in HL cases with limited family background details, providing a robust framework for resolving complex genetic etiologies and improving diagnostic precision.","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"300 1","pages":"61"},"PeriodicalIF":2.3,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144476066","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Transcriptome profiling reveals the regulatory mechanisms of AsA (ascorbic acid) and flavonoid synthesis and metabolic processes in fruit development of Ribes nigrum L. 转录组分析揭示了Ribes nigrum果实发育中AsA（抗坏血酸）和类黄酮合成及代谢过程的调控机制。

IF 2.3 3区生物学

Molecular Genetics and Genomics Pub Date : 2025-06-23 DOI: 10.1007/s00438-025-02267-1

Xuelin Zhang, Danni Zhang, Weihua Li, Jiachen Li, Shuxian Li, Weixia Zhang, Peng Zhang, Kaojia Cui, Junwei Huo, Huixin Gang, Dong Qin

{"title":"Transcriptome profiling reveals the regulatory mechanisms of AsA (ascorbic acid) and flavonoid synthesis and metabolic processes in fruit development of Ribes nigrum L.","authors":"Xuelin Zhang, Danni Zhang, Weihua Li, Jiachen Li, Shuxian Li, Weixia Zhang, Peng Zhang, Kaojia Cui, Junwei Huo, Huixin Gang, Dong Qin","doi":"10.1007/s00438-025-02267-1","DOIUrl":"https://doi.org/10.1007/s00438-025-02267-1","url":null,"abstract":"Blackcurrant (Ribes nigrum L.), a nutrient-rich cold-climate berry, accumulates ascorbic acid (AsA) and flavonoids critical for fruit quality, yet their regulatory mechanisms during development remain poorly characterized. This study systematically investigated AsA and flavonoid dynamics across four developmental stages (young, expansion, veraison, ripe) in two contrasting varieties, 'Adelinia' and 'Heifeng', while integrating transcriptomics to elucidate metabolic pathways and regulatory networks. We observed a progressive decline in AsA content during fruit maturation, governed by coordinated regulation of biosynthesis (GDP-L-galactose phosphorylase-driven) and recycling pathways (mediated by monodehydroascorbate reductase). Flavonoid levels peaked at the young fruit stage, sharply decreased during veraison, and showed varietal specificity, with 'Heifeng' exhibiting higher accumulation. Co-expression networks identified 4 core structural genes and 6 transcription factors (TFs) regulating AsA metabolism, alongside 8 structural genes and 9 TFs associated with flavonoid biosynthesis. Comparative analysis of fruit size revealed divergent hormone signaling between varieties, with auxin- and cytokinin-related DEGs in the plant hormone transduction pathway (ko04075) strongly correlated with cell expansion. Photosynthesis-antenna protein pathway genes (ko00196) further contributed to size variation, suggesting energy allocation trade-offs during ripening. These findings advance the molecular understanding of AsA and flavonoid regulation in blackcurrant, highlighting cultivar-specific metabolic strategies. The identified genes and TFs provide actionable targets for breeding programs aimed at enhancing nutritional quality and yield, while insights into hormone signaling offer practical frameworks for optimizing growth regulator applications in cultivation.","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"300 1","pages":"62"},"PeriodicalIF":2.3,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144476068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Conditional QTL/QTN mapping for seed width and mining candidate genes based on soybean FW-RIL population. 大豆FW-RIL群体种子宽度条件QTL/QTN定位及候选基因挖掘。

IF 2.3 3区生物学

Molecular Genetics and Genomics Pub Date : 2025-06-20 DOI: 10.1007/s00438-025-02271-5

Xu Wang, Bo Hu, Hong Xue, Ming Yuan, Quanzhong Dong, Wen-Xia Li, Zhimin Dong, Hailong Ning

{"title":"Conditional QTL/QTN mapping for seed width and mining candidate genes based on soybean FW-RIL population.","authors":"Xu Wang, Bo Hu, Hong Xue, Ming Yuan, Quanzhong Dong, Wen-Xia Li, Zhimin Dong, Hailong Ning","doi":"10.1007/s00438-025-02271-5","DOIUrl":"10.1007/s00438-025-02271-5","url":null,"abstract":"Soybean seed width (SW) is a pivotal quantitative trait influencing both seed yield and appearance quality, controlled by a complex interplay of multiple genes and environmental factors. This research was undertaken to identify significant genetic loci and candidate genes associated with SW, thereby facilitating the development of molecular markers crucial for advancing soybean breeding programs. In this study, a four-way recombinant inbred line (FW-RIL) population, derived from the cross of (Kenfeng14 × Kenfeng15) × (Heinong48 × Kenfeng19),1 alongside a diverse germplasm population (GP) comprising 455 soybean cultivars, served as the genetic material. Phenotypic measurements of SW were meticulously recorded for the FW-RILs across three distinct environments and for the GP across four environments. Subsequent linkage analysis in the FW-RIL population and genome-wide association studies (GWAS) in the GP were conducted to map the quantitative trait loci (QTLs) and quantitative trait nucleotides (QTNs) underlying SW. These analyses successfully identified a total of 51 QTLs and 103 QTNs associated with SW. Furthermore, detailed investigation of seven QTNs attenuation regions located within the consistently detected qSW-7-2 region was performed to predict potential candidate genes. This process led to the selection of three promising genes; Glyma.07G004700, Glyma.07G006300, and Glyma.07G013700 based on the integrated evidence from sequence variation analysis among parental lines, comprehensive haplotype analysis within the mapping populations, and relevant functional annotation. The comprehensive identification of these QTLs, QTNs, and particularly the three prioritized candidate genes, offers significant insights into the genetic control of soybean seed width and provides a robust foundation for the development of effective molecular markers to enhance the efficiency of marker-assisted selection for improved soybean yield.","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"300 1","pages":"60"},"PeriodicalIF":2.3,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333529","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Overview of high mobility group box 3 (HMGB3] protein. 高迁移率组框3 （HMGB3）蛋白综述。

IF 2.3 3区生物学

Molecular Genetics and Genomics Pub Date : 2025-06-11 DOI: 10.1007/s00438-025-02266-2

Faezeh Mirzaee, Ali Abbaszade-CheragheAli, Atefeh Khamoushi

引用次数: 0

Characterization of P-type H⁺-ATPase Pma1 inhibitors that extend chronological lifespan in fission yeast. 延长裂变酵母时间寿命的p型H+- atp酶Pma1抑制剂的特性。

IF 2.3 3区生物学

Molecular Genetics and Genomics Pub Date : 2025-06-08 DOI: 10.1007/s00438-025-02264-4

Masahiro Tamura, Wakana Yamashita, Takahide Hibi, Shougo Inui, Koki Tanaka, Mami Ozako, Takafumi Shimasaki, Hokuto Ohtsuka, Masatoshi Shibuya, Yoshihiko Yamamoto, Satoshi Yokoshima, Hirofumi Aiba

{"title":"Characterization of P-type H+-ATPase Pma1 inhibitors that extend chronological lifespan in fission yeast.","authors":"Masahiro Tamura, Wakana Yamashita, Takahide Hibi, Shougo Inui, Koki Tanaka, Mami Ozako, Takafumi Shimasaki, Hokuto Ohtsuka, Masatoshi Shibuya, Yoshihiko Yamamoto, Satoshi Yokoshima, Hirofumi Aiba","doi":"10.1007/s00438-025-02264-4","DOIUrl":"https://doi.org/10.1007/s00438-025-02264-4","url":null,"abstract":"Inhibition of the activity of Pma1, a widely conserved P-type proton exporting ATPase, has been shown to extend the chronological lifespan (CLS) in fission yeast Schizosaccharomyces pombe. To develop a specific inhibitor for Pma1 of S. pombe, we focused on Si01, a candidate inhibitor of Saccharomyces cerevisiae Pma1. First, we have established a method for synthesis of Si01 and then investigated its Pma1 inhibitory activity and lifespan extension effect in fission yeast. Second, we also synthesized derivatives of Si01 and determined the minimum structure required for inhibition of S. pombe Pma1. Here we showed that the inhibitory activity of Pma1 correlates with the effect of lifespan extension. Si01 reduced the activity of purified Pma1 protein and extended the CLS of not only fission yeast but also budding yeast. These results provide a molecular basis for understanding the mechanism of Pma1 inhibition and the potential for developing molecules that regulate lifespan.","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"300 1","pages":"58"},"PeriodicalIF":2.3,"publicationDate":"2025-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144248836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

lncBNIP3 knockdown enhances bovine myoblast proliferation by modulating DNA replication and cell cycle pathways. lnbnip3敲低通过调节DNA复制和细胞周期途径促进牛成肌细胞增殖。

IF 2.3 3区生物学

Molecular Genetics and Genomics Pub Date : 2025-06-05 DOI: 10.1007/s00438-025-02260-8

Meng Yang, Yishan Pang, Sayed Haidar Abbas Raza, Juntao Guo, Jianfang Wang, Gongwei Zhang, Sameerh Alsahafi, Majid Al-Zahrani, Fuyuan Zuo, Wenzhen Zhang

{"title":"lncBNIP3 knockdown enhances bovine myoblast proliferation by modulating DNA replication and cell cycle pathways.","authors":"Meng Yang, Yishan Pang, Sayed Haidar Abbas Raza, Juntao Guo, Jianfang Wang, Gongwei Zhang, Sameerh Alsahafi, Majid Al-Zahrani, Fuyuan Zuo, Wenzhen Zhang","doi":"10.1007/s00438-025-02260-8","DOIUrl":"https://doi.org/10.1007/s00438-025-02260-8","url":null,"abstract":"Myogenesis, a multistep process involving myoblast proliferation and differentiation, is critical for determining the economic value of beef cattle. While long noncoding RNAs (lncRNAs) are known to regulate myoblast proliferation, their specific mechanisms remain unclear. This study investigates the role of lncBNIP3 in bovine myoblast proliferation and examines the effects of its knockdown on cellular biological characteristics. Using quantitative real-time PCR (qRT-PCR), lncBNIP3 expression was observed to be higher in muscle tissues compared to other tissues in both 1-day-old and 24-month-old Qinchuan cattle. Knockdown of lncBNIP3 expression upregulated the mRNA levels of proliferation-related genes, as confirmed by qRT-PCR, and subsequently enhanced cellular proliferation, as demonstrated through EdU assays, flow cytometry, and CCK-8 analysis. Transcriptomic sequencing of myoblasts revealed that differentially expressed genes (DEGs) were significantly enriched in pathways associated with DNA replication and the cell cycle. Shared DEGs were primarily enriched in the minichromosome maintenance (MCM) gene family. Additionally, qRT-PCR and transcriptomic sequencing results revealed that the knockdown of lncBNIP3 expression significantly upregulated the mRNA levels of MCM family genes, including MCM2 and MCM3. Fluorescence activity assays further showed that lncBNIP3 knockdown significantly enhanced the promoter activities of MCM2 and MCM3. These findings suggest that interference with lncBNIP3 expression promotes the proliferation of bovine myoblasts, potentially through transcriptional regulation of the MCM gene family. This study provides novel insights into the regulatory functions of lncRNAs in muscle development.","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"300 1","pages":"56"},"PeriodicalIF":2.3,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144225990","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Transcriptional characterization of sepsis in a LPS porcine model. LPS猪模型脓毒症的转录特征。

IF 2.3 3区生物学

Molecular Genetics and Genomics Pub Date : 2025-06-05 DOI: 10.1007/s00438-025-02261-7

Ryan Neill

{"title":"Transcriptional characterization of sepsis in a LPS porcine model.","authors":"Ryan Neill","doi":"10.1007/s00438-025-02261-7","DOIUrl":"https://doi.org/10.1007/s00438-025-02261-7","url":null,"abstract":"This paper identifies gene candidates differentially expressed in the porcine brain during sepsis, designed for eventual application in human clinical care for earlier detection of sepsis, as no known biomarkers currently exist. Sepsis associated encephalopathy (SAE) is characterized by dysregulated molecular pathways of the immune response impinging upon normal central nervous system (CNS) function and ultimately resulting in lasting cognitive and behavioral impairments. This study seeks to identify gene candidates that exhibit altered transcriptional expression during sepsis. Twelve Yorkshire pigs (n = 6 for saline control and lipopolysaccharide group) were utilized. LPS injection rate was 0.5-0.75 mL/kg resulting in death within 5-10 h. Brain tissue was collected and analyzed via bulk RNA-seq, and corresponding computational genomic analysis. Multiple genes demonstrated significant differential expression in the early septic brain, correlating with endothelial cell disruption, immune/inflammatory alterations, and potential alterations in microglia. Gene candidates downregulated include: OCLN, SLC19A3, and SLC52A3. Genes upregulated include: ICAM1, IRF1, CXCL10, and ZFP36. Specific gene candidates were identified as early changes in the septic brain that could be targets to prevent long-term cognitive and behavioral changes seen in sepsis survivors and establish a baseline diagnostic panel to interrogate in animal models with the goal of advancing treatments for human patients who experience sepsis.","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"300 1","pages":"57"},"PeriodicalIF":2.3,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144225991","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetic insights into forensic features and population structure of the Hajong tribe in the Indian regions of Eastern Himalaya. 对喜马拉雅东部印度地区Hajong部落的法医特征和人口结构的遗传见解。

IF 2.3 3区生物学

Molecular Genetics and Genomics Pub Date : 2025-06-05 DOI: 10.1007/s00438-025-02262-6

Avinash Vahinde, Penny H Niranjan, Gaurav Priyank, Chubi Niji, Vivek Sahajpal, Ajay S Rana, Deepika Bhandari, Satish Kumar, Sweta Nidhi, Abhishek Singh

{"title":"Genetic insights into forensic features and population structure of the Hajong tribe in the Indian regions of Eastern Himalaya.","authors":"Avinash Vahinde, Penny H Niranjan, Gaurav Priyank, Chubi Niji, Vivek Sahajpal, Ajay S Rana, Deepika Bhandari, Satish Kumar, Sweta Nidhi, Abhishek Singh","doi":"10.1007/s00438-025-02262-6","DOIUrl":"10.1007/s00438-025-02262-6","url":null,"abstract":"India's northeastern region, particularly Meghalaya, a melting pot of diverse ethnic and racial groups that have been shaped by ancient migrations and the natural barriers posed by the Himalayas. The Hajong tribe, who live mainly in the Garo Hills of Meghalaya, reflect this diversity, sharing cultural similarities with the Tibetan and Bhutanese populations. Historically regarded as immigrants to Arunachal Pradesh, the Hajongs' genetic relationship with the greater Himalayan region makes them an ideal subject for estimation of genetic attributes. This study analyzed 23 autosomal STR markers to assess the genetic diversity of Hajong tribe with emphasis on forensic parameters. Among the 23 autosomal STR markers analyzed, several loci including SE33, FGA, and D18S51 exhibited high polymorphic information content and paternity index values, reflecting their strong forensic utility in the Hajong population. The combined Power of Exclusion (PE) and Power of Discrimination (PD) was 0.999999999 and 0.999999999, respectively, whereas the Total Paternity Index (TPI) and the Combined Matching Probability (PM) was 756014064.7 and 1.3214E-27. The fixation index, F = - 0.016 ± 0.014, showed very minimal intra-population differentiation. Genetic relationship assessment, including NJ dendrograms and MDS plots, revealed a close genetic affinity between Hajong and populations from Tibet, Bhutan, Nepal, and Myanmar, reflecting a shared ancestral relationship. STRUCTURE analysis revealed well-defined clustering, with limited admixture in the Hajong population, indicating genetic distinctiveness. This study reflects the genetic individuality of the Hajong tribe and its utility for forensic studies in kinship analysis. Such studies will, further, help in analyzing population dynamics in Northeast India by tracing the history of migration and interrelationships among Himalayan populations.","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"300 1","pages":"55"},"PeriodicalIF":2.3,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144225989","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0