Journal of Genetics and Genomics最新文献

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Multiple nucleotide variants in genetic diagnosis: implications from 11,467 cases of hearing loss. 遗传诊断中的多核苷酸变异:来自11,467例听力损失的影响。
IF 6.6 2区 生物学
Journal of Genetics and Genomics Pub Date : 2025-04-04 DOI: 10.1016/j.jgg.2025.03.012
Fandi Ai, Jiayi Zeng, Qian Zhang, Mingjun Zhong, Meilin Chen, Yu Lu, Jing Cheng, Lei Chen, Fengxiao Bu, Huijun Yuan
{"title":"Multiple nucleotide variants in genetic diagnosis: implications from 11,467 cases of hearing loss.","authors":"Fandi Ai, Jiayi Zeng, Qian Zhang, Mingjun Zhong, Meilin Chen, Yu Lu, Jing Cheng, Lei Chen, Fengxiao Bu, Huijun Yuan","doi":"10.1016/j.jgg.2025.03.012","DOIUrl":"https://doi.org/10.1016/j.jgg.2025.03.012","url":null,"abstract":"<p><p>Multiple nucleotide variants (MNVs) are frequently misannotated as separate single-nucleotide variants (SNVs) by widely utilized variant-calling pipelines, presenting substantial challenges in genetic testing and research. The role of MNVs in genetic diagnosis remains inadequately characterized, particularly within large disease cohorts. In this study, we comprehensively investigate codon-level MNVs (cMNVs) across 157 hearing loss (HL)-related genes in 11,467 HL cases and 7,258 controls from the Chinese Deafness Gene Consortium (CDGC) cohort. A total of 116 cMNVs are identified, occurring in 29.07% of HL cases. 56.03% of cMNVs exhibit functional consequences distinct from constituent SNVs. Moreover, amino acid substitutions exclusive to cMNVs cause more substantial physicochemical disruptions than those associated with SNVs. Notably, 51 cMNVs show pathogenicity classifications that diverge from at least one constituent SNV, impacting genetic interpretation in 145 cases. Pathogenicity interpretation of cMNV facilitates definitive genetic diagnoses in eight HL cases that would otherwise have been subject to misdiagnoses or missed diagnoses. These findings provide critical insights into the genomic characteristics, functional impacts, and diagnostic implications of cMNVs, underscoring their clinical significance in genetic diagnosis and emphasizing the necessity for comprehensive and accurate detection and interpretation of cMNVs in genetic testing and research.</p>","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143797161","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Structural variation-based and gene-based pangenome construction reveals untapped diversity of hexaploid wheat. 基于结构变异和基因的全基因组构建揭示了六倍体小麦未开发的多样性。
IF 6.6 2区 生物学
Journal of Genetics and Genomics Pub Date : 2025-04-04 DOI: 10.1016/j.jgg.2025.03.015
Hong Cheng, Lingpeng Kong, Kun Zhu, Hang Zhao, Xiuli Li, Yanwen Zhang, Weidong Ning, Mei Jiang, Bo Song, Shifeng Cheng
{"title":"Structural variation-based and gene-based pangenome construction reveals untapped diversity of hexaploid wheat.","authors":"Hong Cheng, Lingpeng Kong, Kun Zhu, Hang Zhao, Xiuli Li, Yanwen Zhang, Weidong Ning, Mei Jiang, Bo Song, Shifeng Cheng","doi":"10.1016/j.jgg.2025.03.015","DOIUrl":"https://doi.org/10.1016/j.jgg.2025.03.015","url":null,"abstract":"<p><p>Increasing number of structural variations (SVs) have been identified as causative mutations for diverse agronomic traits. However, the systematic exploration of SVs quantity, distribution and contribution in wheat was lacking. Here, we report high-quality gene-based and SV-based pangenomes comprising 22 hexaploid wheat assemblies showing a wide range of chromosome size, gene number, and TE component, which indicates their representativeness of wheat genetic diversity. Pan-gene analyses uncover 140,261 distinct gene families, of which only 23.2% are shared in all accessions. Moreover, we built a ∼16.15 Gb graph pangenome containing 695,897 bubbles, intersecting 5,132 genes and 230,307 cis-regulatory regions. Pairwise genome comparisons identified ∼1,978,221 non-redundant SVs and 497 SV hotspots. Notably, the density of bubbles as well as SVs show remarkable aggregation in centromeres, which probably play an important role in chromosome plasticity and stability. As for functional SVs exploration, we identify 2,769 SVs with absolute relative frequency differences exceeding 0.7 between spring and winter growth habit groups. Additionally, several reported functional genes in wheat display complex structural graphs, for example PPD-A1, VRT-A2, and TaNAAT2-A. These findings deepen our understanding of wheat genetic diversity, providing valuable graphical pangenome and variation resources to improve the efficiency of genome-wide association mapping in wheat.</p>","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143797166","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Annotation and assessment of functional variants in livestock through epigenomic data. 通过表观基因组数据对家畜功能变异的注释和评估。
IF 6.6 2区 生物学
Journal of Genetics and Genomics Pub Date : 2025-04-04 DOI: 10.1016/j.jgg.2025.03.013
Ruixian Ma, Renzhuo Kuang, Jingcheng Zhang, Jiahao Sun, Yueyuan Xu, Xinbo Zhou, Zheyu Han, Mingyang Hu, Daoyuan Wang, Yuhua Fu, Yong Zhang, Xinyun Li, Mengjin Zhu, Shuhong Zhao, Tao Xiang, Mengwei Shi, Yunxia Zhao
{"title":"Annotation and assessment of functional variants in livestock through epigenomic data.","authors":"Ruixian Ma, Renzhuo Kuang, Jingcheng Zhang, Jiahao Sun, Yueyuan Xu, Xinbo Zhou, Zheyu Han, Mingyang Hu, Daoyuan Wang, Yuhua Fu, Yong Zhang, Xinyun Li, Mengjin Zhu, Shuhong Zhao, Tao Xiang, Mengwei Shi, Yunxia Zhao","doi":"10.1016/j.jgg.2025.03.013","DOIUrl":"https://doi.org/10.1016/j.jgg.2025.03.013","url":null,"abstract":"<p><p>Understanding genetic variant functionality is essential for advancing animal genomics and precision breeding. However, the lack of comprehensive functional genomic annotations in animals limits the effectiveness of most variant function assessment methods. In this study, we gather 1030 raw epigenomic datasets from 10 farm animal species and systematically annotate 7 types of key regulatory regions, creating a comprehensive functional annotation map of animal genomic variants. Our findings demonstrate that integrating variants with regulatory annotations can identify tissues and cell types underlying economic traits, underscoring the utility of these annotations in functional variant discovery. Using our functional annotations, we rank the functional potential of genetic variants and classify over 127 million candidate variants into 5 functional confidence categories, with high-confidence variants significantly enriched in eQTLs and trait-associated SNPs. Incorporating these variants into genomic prediction models can improve estimated breeding value (EBV) accuracy, demonstrating their practical utility in breeding programs. To facilitate the use of our results, we develop the Integrated Functional Mutation (IFmut: http://www.ifmutants.com:8212) platform, enabling researchers to explore regulatory annotations and assess the functional potential of animal variants efficiently. Our study provides a robust framework for functional genomic annotations in farm animals, enhancing variant function assessment and breeding precision.</p>","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143797157","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Local trafficking and long-distance transport of small RNAs in plants. 植物小rna的局部转运和远距离转运。
IF 6.6 2区 生物学
Journal of Genetics and Genomics Pub Date : 2025-04-03 DOI: 10.1016/j.jgg.2025.03.011
Yi Zhao, Binglian Zheng
{"title":"Local trafficking and long-distance transport of small RNAs in plants.","authors":"Yi Zhao, Binglian Zheng","doi":"10.1016/j.jgg.2025.03.011","DOIUrl":"https://doi.org/10.1016/j.jgg.2025.03.011","url":null,"abstract":"<p><p>Canonical small RNAs in plants, including miRNAs and siRNAs, are key triggers of RNA interference and regulate nearly every major biological process in plants. To establish systemic silencing, small RNAs undergo both short-distance intracellular trafficking or intercellular communication and long-distance transport from one organ to another, even across parasites or pathogens. This enables the delivery of effector molecules throughout the plant, promoting the spread of gene silencing. Biologically, the spatiotemporal regulation of small RNAs results in gradient distributions within cells or along the direction of organogenesis. Furthermore, the spreading capacity of small RNAs, generated in somatic or nurse cells, can guide target gene silencing in germlines in plants. In this review, we summarize recent advances in understanding the regulation and the functional roles of local trafficking and long-distance transport of plant small RNAs in developmental polarity, the maintenance of cell identity, and with a particular focus, the mechanisms of small RNA movement and delivery between companion cells and gametes in plants. Additionally, we discuss the methods and challenges of monitoring small RNA transport in vivo through live imaging, as well as the potential applications of small RNA transport and delivery in the development of RNA-based pesticides.</p>","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143789348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Forensic investigative genetic genealogy: expanding pedigree tracing and genetic inquiry in the genomic era. 法医调查遗传系谱学:在基因组时代扩大血统追踪和遗传调查。
IF 6.6 2区 生物学
Journal of Genetics and Genomics Pub Date : 2025-04-01 Epub Date: 2024-07-03 DOI: 10.1016/j.jgg.2024.06.016
Mengge Wang, Hongyu Chen, Lintao Luo, Yuguo Huang, Shuhan Duan, Huijun Yuan, Renkuan Tang, Chao Liu, Guanglin He
{"title":"Forensic investigative genetic genealogy: expanding pedigree tracing and genetic inquiry in the genomic era.","authors":"Mengge Wang, Hongyu Chen, Lintao Luo, Yuguo Huang, Shuhan Duan, Huijun Yuan, Renkuan Tang, Chao Liu, Guanglin He","doi":"10.1016/j.jgg.2024.06.016","DOIUrl":"10.1016/j.jgg.2024.06.016","url":null,"abstract":"<p><p>Genetic genealogy provides crucial insights into the complex biological relationships within contemporary and ancient human populations by analyzing shared alleles and chromosomal segments that are identical by descent to understand kinship, migration patterns, and population dynamics. Within forensic science, forensic investigative genetic genealogy (FIGG) has gained prominence by leveraging next-generation sequencing technologies and population-specific genomic resources, opening useful investigative avenues. In this review, we synthesize current knowledge, underscore recent advancements, and discuss the growing role of FIGG in forensic genomics. FIGG has been pivotal in revitalizing dormant inquiries and offering genetic leads in numerous cold cases. Its effectiveness relies on the extensive single-nucleotide polymorphism profiles contributed by individuals from diverse populations to specialized genomic databases. Advances in computational genomics and the growth of human genomic databases have spurred a profound shift in the application of genetic genealogy across forensics, anthropology, and ancient DNA studies. As the field progresses, FIGG is evolving from a nascent practice into a more sophisticated and specialized discipline, shaping the future of forensic investigations.</p>","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":"460-472"},"PeriodicalIF":6.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141538951","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Genomic characterization reveals distinct mutational landscape of acral melanoma in East Asian. 基因组特征揭示了东亚肢端黑色素瘤不同的突变景观。
IF 6.6 2区 生物学
Journal of Genetics and Genomics Pub Date : 2025-04-01 Epub Date: 2025-01-09 DOI: 10.1016/j.jgg.2024.12.018
Fenghao Zhang, Xiaowen Wu, Tao Jiao, Haizhen Du, Qian Guo, Chuanliang Cui, Zhihong Chi, Xinan Sheng, Dezhi Jiang, Yuhong Zhang, Jiayan Wu, Yan Kong, Lu Si
{"title":"Genomic characterization reveals distinct mutational landscape of acral melanoma in East Asian.","authors":"Fenghao Zhang, Xiaowen Wu, Tao Jiao, Haizhen Du, Qian Guo, Chuanliang Cui, Zhihong Chi, Xinan Sheng, Dezhi Jiang, Yuhong Zhang, Jiayan Wu, Yan Kong, Lu Si","doi":"10.1016/j.jgg.2024.12.018","DOIUrl":"10.1016/j.jgg.2024.12.018","url":null,"abstract":"<p><p>Acral melanoma, the most common melanoma subtype in East Asia, is associated with a poor prognosis. This study aims to comprehensively analyze the genomic characteristics of acral melanoma in East Asians. We conduct whole-genome sequencing of 55 acral melanoma tumors and perform data mining with relevant clinical data. Our findings reveal a unique mutational profile in East Asian acral melanoma, characterized by fewer point mutations and structural variations, a higher prevalence of NRAS mutations, and a lower frequency of BRAF mutations compared to patients of European descent. Notably, we identify previously underestimated ultraviolet radiation signatures and their significant association with BRAF and NRAS mutations. Structural rearrangement signatures indicate distinct mutational processes in BRAF-driven versus NRAS-driven tumors. We also find that homologous recombination deficiency with MAPK pathway mutations correlated with poor prognosis. The structural variations and amplifications in EP300, TERT, RAC1, and LZTR1 point to potential therapeutic targets tailored to East Asian populations. The high prevalence of whole-genome duplication events in BRAF/NRAS-mutated tumors suggests a synergistic carcinogenic effect that warrants further investigation. In summary, our study provides important insights into the genetic underpinnings of acral melanoma in East Asians, creating opportunities for targeted therapies.</p>","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":"525-538"},"PeriodicalIF":6.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142973388","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
A rare KLHDC4 variant Glu510Lys is associated with genetic susceptibility and promotes tumor metastasis in nasopharyngeal carcinoma. 一种罕见的KLHDC4变异Glu510Lys与鼻咽癌的遗传易感性相关,并促进肿瘤转移。
IF 6.6 2区 生物学
Journal of Genetics and Genomics Pub Date : 2025-04-01 Epub Date: 2024-12-18 DOI: 10.1016/j.jgg.2024.12.008
Xi-Xi Cheng, Guo-Wang Lin, Ya-Qing Zhou, Yi-Qi Li, Shuai He, Yang Liu, Yan-Ni Zeng, Yun-Miao Guo, Shu-Qiang Liu, Wan Peng, Pan-Pan Wei, Chun-Ling Luo, Jin-Xin Bei
{"title":"A rare KLHDC4 variant Glu510Lys is associated with genetic susceptibility and promotes tumor metastasis in nasopharyngeal carcinoma.","authors":"Xi-Xi Cheng, Guo-Wang Lin, Ya-Qing Zhou, Yi-Qi Li, Shuai He, Yang Liu, Yan-Ni Zeng, Yun-Miao Guo, Shu-Qiang Liu, Wan Peng, Pan-Pan Wei, Chun-Ling Luo, Jin-Xin Bei","doi":"10.1016/j.jgg.2024.12.008","DOIUrl":"10.1016/j.jgg.2024.12.008","url":null,"abstract":"<p><p>Various genetic association studies have identified numerous single nucleotide polymorphisms (SNPs) associated with nasopharyngeal carcinoma (NPC) risk. However, these studies have predominantly focused on common variants, leaving the contribution of rare variants to the \"missing heritability\" largely unexplored. Here, we integrate genotyping data from 3925 NPC cases and 15,048 healthy controls to identify a rare SNP, rs141121474, resulting in a Glu510Lys mutation in KLHDC4 gene linked to increased NPC risk. Subsequent analyses reveal that KLHDC4 is highly expressed in NPC and correlates with poorer prognosis. Functional characterizations demonstrate that KLHDC4 acts as an oncogene in NPC cells, enhancing their migratory and metastatic capabilities, with these effects being further augmented by the Glu510Lys mutation. Mechanistically, the Glu510Lys mutant exhibits increased interaction with Vimentin compared to the wild-type KLHDC4 (KLHDC4-WT), leading to elevated Vimentin protein stability and modulation of the epithelial-mesenchymal transition process, thereby promoting tumor metastasis. Moreover, Vimentin knockdown significantly mitigates the oncogenic effects induced by overexpression of both KLHDC4-WT and the Glu510Lys variant. Collectively, our findings highlight the critical role of the rare KLHDC4 variant rs141121474 in NPC progression and propose its potential as a diagnostic and therapeutic target for NPC patients.</p>","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":"559-569"},"PeriodicalIF":6.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142873453","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Ancient genomes illuminate the demographic history of Shandong over the past two millennia. 古代基因组揭示了山东两千年来的人口历史。
IF 6.6 2区 生物学
Journal of Genetics and Genomics Pub Date : 2025-04-01 Epub Date: 2024-07-14 DOI: 10.1016/j.jgg.2024.07.008
Qu Shen, Zhigang Wu, Jinguo Zan, Xiaomin Yang, Jianxin Guo, Zhi Ji, Baitong Wang, Yilan Liu, Xiaolu Mao, Xinyi Wang, Xinyue Zou, Hongming Zhou, Yanying Peng, Hao Ma, Haifeng He, Tianyou Bai, Mengting Xu, Shaoqing Wen, Li Jin, Qun Zhang, Chuan-Chao Wang
{"title":"Ancient genomes illuminate the demographic history of Shandong over the past two millennia.","authors":"Qu Shen, Zhigang Wu, Jinguo Zan, Xiaomin Yang, Jianxin Guo, Zhi Ji, Baitong Wang, Yilan Liu, Xiaolu Mao, Xinyi Wang, Xinyue Zou, Hongming Zhou, Yanying Peng, Hao Ma, Haifeng He, Tianyou Bai, Mengting Xu, Shaoqing Wen, Li Jin, Qun Zhang, Chuan-Chao Wang","doi":"10.1016/j.jgg.2024.07.008","DOIUrl":"10.1016/j.jgg.2024.07.008","url":null,"abstract":"<p><p>Shandong province, located in the Lower Yellow River, is one of the birthplaces of ancient Chinese civilization. However, the comprehensive genetic histories of this region have remained largely unknown until now due to a lack of ancient human genomes. Here, we present 21 ancient genomes from Shandong dating from the Warring States period to the Northern Dynasties. Unlike the early Neolithic samples from Shandong, the historical samples are most closely related to post-Late Neolithic populations of the Middle Yellow River Basin, suggesting a population turnover in Shandong from the Neolithic Age to the Historical era. In addition, we detect a close genetic affinity between the historical samples in Shandong and present-day Han Chinese, showing long-term genetic stability in Han Chinese, at least since the Warring States period.</p>","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":"494-501"},"PeriodicalIF":6.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141621830","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Genome-wide DNA methylation profile and predictive biomarkers in premature ovarian insufficiency. 卵巢早衰的全基因组 DNA 甲基化图谱和预测性生物标志物
IF 6.6 2区 生物学
Journal of Genetics and Genomics Pub Date : 2025-04-01 Epub Date: 2024-10-18 DOI: 10.1016/j.jgg.2024.10.004
Xinmiao He, Xinyue Chang, Shuning Zhuang, Jianing Liu, Yuteng Wang, Yingying Qin, Ting Guo
{"title":"Genome-wide DNA methylation profile and predictive biomarkers in premature ovarian insufficiency.","authors":"Xinmiao He, Xinyue Chang, Shuning Zhuang, Jianing Liu, Yuteng Wang, Yingying Qin, Ting Guo","doi":"10.1016/j.jgg.2024.10.004","DOIUrl":"10.1016/j.jgg.2024.10.004","url":null,"abstract":"","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":"596-599"},"PeriodicalIF":6.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142481279","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Ancient genomic analysis of a Chinese hereditary elite from the Northern and Southern Dynasties. 中国南北朝时期世袭精英的古代基因组分析。
IF 6.6 2区 生物学
Journal of Genetics and Genomics Pub Date : 2025-04-01 Epub Date: 2024-07-14 DOI: 10.1016/j.jgg.2024.07.009
Yao Yu, Xiaomin Yang, Daiyun Liu, Panxin Du, Hailiang Meng, Zixiao Huang, Jianxue Xiong, Yi Ding, Xiaoying Ren, Edward Allen, Hui Wang, Sheng Han, Li Jin, Chuan-Chao Wang, Shaoqing Wen
{"title":"Ancient genomic analysis of a Chinese hereditary elite from the Northern and Southern Dynasties.","authors":"Yao Yu, Xiaomin Yang, Daiyun Liu, Panxin Du, Hailiang Meng, Zixiao Huang, Jianxue Xiong, Yi Ding, Xiaoying Ren, Edward Allen, Hui Wang, Sheng Han, Li Jin, Chuan-Chao Wang, Shaoqing Wen","doi":"10.1016/j.jgg.2024.07.009","DOIUrl":"10.1016/j.jgg.2024.07.009","url":null,"abstract":"<p><p>China's Northern and Southern Dynasties period (3rd-6th centuries AD) marked a significant era of ethnic integration in northern China. However, previous ancient DNA studies have primarily focused on northern ethnic groups, with limited research on the genetic formation of the hereditary elite family, especially considering their abundant archaeological record and clear material identity. In this study, we obtain the ancient genome of a hereditary elite family, Gao Bin (, 503 AD-572 AD), at 0.6473-fold coverage with 475,132 single-nucleotide polymorphisms (SNPs) on the 1240k panel. His mitochondrial haplogroup belongs to Z4 and Y-haplogroup to O1a1a2b-F2444∗. The genetic profile of Gao Bin is most similar to that of the northern Han Chinese. He can be modeled as deriving all his ancestry from Late Neolithic to Iron Age Yellow River farmers without influence from Northeast Asia, Korea, or the Mongolian Plateau. Our study sheds light on the genetic formation of hereditary elite families in the context of the Southern and Northern Dynasties ethnic integration.</p>","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":"473-482"},"PeriodicalIF":6.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141621831","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
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