Journal of Genetics and Genomics最新文献

Maize Chlorotic Leaf Spot1 encodes a fumarylacetoacetate hydrolase essential for carbohydrate partitioning. 玉米褪绿叶Spot1编码碳水化合物分配所必需的富马酰乙酸水解酶。

IF 7.1 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-10-08 DOI: 10.1016/j.jgg.2025.10.002

Ruchang Ren, Sihang Zhao, Hong Jia, Hao Li, Lishuan Wu, Jinge Tian, Yifan Zhu, Junxiang Tang, Xiangyang Guo, Chenglong Wang, Feng Tian

{"title":"Maize Chlorotic Leaf Spot1 encodes a fumarylacetoacetate hydrolase essential for carbohydrate partitioning.","authors":"Ruchang Ren, Sihang Zhao, Hong Jia, Hao Li, Lishuan Wu, Jinge Tian, Yifan Zhu, Junxiang Tang, Xiangyang Guo, Chenglong Wang, Feng Tian","doi":"10.1016/j.jgg.2025.10.002","DOIUrl":"https://doi.org/10.1016/j.jgg.2025.10.002","url":null,"abstract":"Carbohydrate partitioning from photosynthetic sources to non-photosynthetic sinks is essential for plant development and crop yield. Using a maize-teosinte BC2S3 population, we identify Chlorotic Leaf Spot1 (CLS1), a fumarylacetoacetate hydrolase (FAH) in the tyrosine degradation pathway that plays an essential role in carbohydrate partitioning in maize. CLS1 localizes to the plasma membrane, cytoplasm, and nucleus. Allelic tests and sequence analysis reveal that the teosinte parent CIMMYT8759 carries a weak allele of CLS1, likely due to rare amino acid substitutions at residues 175 and 355. Loss-of-function mutants of CLS1 develop chlorotic leaf spots accompanied by carbohydrate hyperaccumulation, reduced photosynthetic efficiency, chloroplast damage, and impaired transient starch conversion. Critically, cls1 mutants exhibit ectopic callose accumulation and aberrant plasmodesmata ultrastructure at the mesophyll-bundle sheath and bundle sheath-vascular parenchyma interfaces. This defect causes starch granule and soluble sugar accumulation in chlorotic leaf tissues, indicating a disruption of the symplastic transport pathway. Collectively, our results uncover an important role for FAH in plant development and identify CLS1 as a key regulator of symplastic carbohydrate partitioning.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":7.1,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145276689","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 insights into population structure, adaptation, and archaic introgression at the Himalayan-East Asian crossroads. 喜马拉雅-东亚十字路口种群结构、适应性和古老基因渗入的基因组见解。

IF 7.1 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-10-08 DOI: 10.1016/j.jgg.2025.09.010

Mengge Wang, Shuhan Duan, Qiuxia Sun, Yuntao Sun, Lintao Luo, Yunhui Liu, Renkuan Tang, Libing Yun, Chao Liu, Guanglin He

{"title":"Genomic insights into population structure, adaptation, and archaic introgression at the Himalayan-East Asian crossroads.","authors":"Mengge Wang, Shuhan Duan, Qiuxia Sun, Yuntao Sun, Lintao Luo, Yunhui Liu, Renkuan Tang, Libing Yun, Chao Liu, Guanglin He","doi":"10.1016/j.jgg.2025.09.010","DOIUrl":"https://doi.org/10.1016/j.jgg.2025.09.010","url":null,"abstract":"Tibetan-Yi Corridor (TYC) is a crucial agro-pastoral region in the eastern Himalayas, linking Qinghai‒Xizang Plateau with the lowlands of East Asia and facilitating human migration for millennia. However, genomic research on TYC populations remains limited, which limits the understanding of their origins and health. We provide genomic data from 1031 individuals belonging to Austroasiatic and Sino-Tibetan groups, including 147 whole-genome sequences from 13 underrepresented Tibeto-Burman and Austroasiatic communities. Our analysis reveals approximately 3.3 million new genetic variants and 4 distinct genetic backgrounds within TYC populations. Demographic reconstructions reveal strong genetic connections among Tibeto-Burman groups, Central Plain Sinitic populations, and Yangshao farmers, supporting a common origin for Sino-Tibetan speakers. We identify signatures of high-altitude adaptations typical of Tibetans and TYC-specific variants linked to pigmentation and hypoxia responses. Differentiation involves mechanisms such as HLA-DQB1, which are related to immune function. Several rare pathogenic variants, like CYP21A2 and PRX, are notably frequent. Variants influencing warfarin sensitivity show significant variation. Archaic human introgression further promotes genomic complexity, impacting cardiovascular and immune-related genes, which suggests adaptation through ancient human interactions. These findings refine the evolutionary history of TYC populations and underscore the need for broader genomic research to capture regional diversity and inform precision medicine.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":7.1,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145276640","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

Single-molecule chromatin profiling reveals cell type-specific A/B compartment alteration and multi-enhancer transcriptional coordination. 单分子染色质谱揭示了细胞类型特异性A/B室改变和多增强子转录协调。

IF 7.1 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-10-08 DOI: 10.1016/j.jgg.2025.09.011

Luo-Ran Liu, Jia-Yong Zhong, Xin Bai, Chen-Liang Ye, Chunhui Hou, Junjun Ding, Wei Chi, Chuan-Le Xiao, Longjian Niu

{"title":"Single-molecule chromatin profiling reveals cell type-specific A/B compartment alteration and multi-enhancer transcriptional coordination.","authors":"Luo-Ran Liu, Jia-Yong Zhong, Xin Bai, Chen-Liang Ye, Chunhui Hou, Junjun Ding, Wei Chi, Chuan-Le Xiao, Longjian Niu","doi":"10.1016/j.jgg.2025.09.011","DOIUrl":"https://doi.org/10.1016/j.jgg.2025.09.011","url":null,"abstract":"In eukaryotic organisms, the three-dimensional organization and epigenomic landscape of chromatin are fundamental to the regulation of gene expression. Previous studies have provided significant insights into CpG methylation, chromatin accessibility, and the dynamics of 3D architecture. However, a systematic delineation of how these epigenomic features regulate transcriptional activity remains limited. In this study, we develop nanoCAM-seq, a single-molecule sequencing technique designed to simultaneously profile higher-order chromatin interactions, chromatin accessibility, and endogenous CpG methylation. This approach provides an integrative view of chromatin features associated with cis-regulatory elements and reveals their coordinated dynamics during transitions of A/B compartments. Single-molecule analyses using nanoCAM-seq further reveal that promoters characterized by low CpG methylation and high chromatin accessibility more frequently interact with multiple enhancers. Collectively, our findings establish nanoCAM-seq as a powerful approach for resolving the coordinated dynamics of chromatin architecture and epigenetic modifications, offering critical insights into the regulatory mechanisms underlying gene expression.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":7.1,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145276682","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

circRNAs derived from a nuclear hormone receptor act differentially on insect metamorphosis and reproduction. 源自核激素受体的环状rna对昆虫的变态和繁殖有不同的作用。

IF 7.1 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-10-07 DOI: 10.1016/j.jgg.2025.10.001

Lulu Gao, Qiang Yan, Ying Qu, Wanwan Li, Jiasheng Song, Shutang Zhou

{"title":"circRNAs derived from a nuclear hormone receptor act differentially on insect metamorphosis and reproduction.","authors":"Lulu Gao, Qiang Yan, Ying Qu, Wanwan Li, Jiasheng Song, Shutang Zhou","doi":"10.1016/j.jgg.2025.10.001","DOIUrl":"https://doi.org/10.1016/j.jgg.2025.10.001","url":null,"abstract":"Insects are the most diverse group on earth, partially owing to their metamorphosis and strong fecundity. Circular RNAs (circRNAs) are stable molecules implicated in a broad range of biological processes. However, the regulatory roles of circRNAs in insect metamorphosis and reproduction are unclear. Methoprene-tolerant (Met) is the nuclear receptor of juvenile hormone (JH) that plays dual roles of inhibiting precocious metamorphosis and promoting reproduction. Here, we report that locust Met generates two circRNAs, circMet1 and circMet2, respectively. While circMet1 is highly expressed in the cuticle of late final instar, circMet2 is more abundant in the corpora allata, brain, and fat body of early vitellogenic adults. Interestingly, circMet2 is generated by complementary pairing of Penelope-like remnants across the introns of Met. Moreover, circMet2 functions as a miRNA sponge of four species-specific miRNAs that downregulate Met translation. siRNA-mediated knockdown of circMet1 causes the delay of metamorphosis and retarded vitellogenesis. Loss of circMet2 results in significantly decreased vitellogenin synthesis, along with blocked ovarian growth. These results reveal the differential roles of circMet1 and circMet2 in modulating insect metamorphosis and female reproduction. This study advances our understanding of how circRNAs derived from a single gene exert distinct roles in insect life history.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":7.1,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145260237","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

Dissecting the genetic basis of reproductive transition and reproductive growth in wheat by considering accumulated temperature. 从积温角度剖析小麦生殖过渡和生殖生长的遗传基础。

IF 7.1 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-10-06 DOI: 10.1016/j.jgg.2025.09.012

Liujie Jin, Kening Duo, Chao Fu, Yunzhen Li, Chao He, Xin Gong, Wenhao Yan

引用次数: 0

Varying Bifidobacterium species in the maternal-infant gut microbiota correlate with distinct early neurodevelopmental outcomes. 不同种类的双歧杆菌在母婴肠道微生物群与不同的早期神经发育结果相关。

IF 7.1 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-10-01 Epub Date: 2025-02-07 DOI: 10.1016/j.jgg.2025.01.015

Cong Liu, Qun Lu, Qi Xi, Shuxin Xiao, Jiangbo Du, Rui Qin, Jinghan Wang, Bo Xu, Xiumei Han, Kun Zhou, Shiyao Tao, Hong Lv, Yangqian Jiang, Tao Jiang, Kan Ye, Guangfu Jin, Hongxia Ma, Yankai Xia, Hongbing Shen, Xingyin Liu, Yuan Lin, Zhibin Hu

{"title":"Varying Bifidobacterium species in the maternal-infant gut microbiota correlate with distinct early neurodevelopmental outcomes.","authors":"Cong Liu, Qun Lu, Qi Xi, Shuxin Xiao, Jiangbo Du, Rui Qin, Jinghan Wang, Bo Xu, Xiumei Han, Kun Zhou, Shiyao Tao, Hong Lv, Yangqian Jiang, Tao Jiang, Kan Ye, Guangfu Jin, Hongxia Ma, Yankai Xia, Hongbing Shen, Xingyin Liu, Yuan Lin, Zhibin Hu","doi":"10.1016/j.jgg.2025.01.015","DOIUrl":"10.1016/j.jgg.2025.01.015","url":null,"abstract":"The impact of mother-infant microbiota on neurodevelopment is an area of interest, but longitudinal studies are scarce. Using a cohort of 520 families from the Jiangsu birth cohort in China, we reveal that the maternal gut microbiota during early pregnancy play a substantial role, accounting for 3.34% of the variance in offspring neurodevelopmental scores. This contribution is notably higher than the 1.24% attributed to the infants' own microbiota at 1 year of age, underscoring the significant influence of maternal gut health on early child development. Remarkably, an elevation in maternal Bifidobacterium pseudocatenulatum is linked to decreased cognitive scores, whereas an enrichment of Bifidobacterium longum at 1 year of age is associated with higher cognitive scores. Furthermore, we find that maternal B. pseudocatenulatum is linked to the heterolactic fermentation metabolic pathway, while infant B. longum is associated with the Bifidobacterium shunt pathway. In summary, our analysis implies that maternal and infant gut microbiota play a distinct role in neurodevelopment, suggesting potential strategies for improving neurodevelopmental outcomes during early pregnancy or infant development by targeting gut microbiota composition.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":"1238-1245"},"PeriodicalIF":7.1,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143384136","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

Postnatal critical-period brain plasticity and neurodevelopmental disorders: revisited circuit mechanisms. 产后关键期脑可塑性和神经发育障碍：重新审视回路机制。

IF 7.1 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-10-01 Epub Date: 2025-07-19 DOI: 10.1016/j.jgg.2025.07.006

Ziwei Shang, Xiaohui Zhang

引用次数: 0

Biallelic MED16 variants disrupt neural development and lead to an intellectual disability syndrome. 双等位基因MED16变异破坏神经发育并导致智力残疾综合征。

IF 7.1 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-10-01 Epub Date: 2025-04-18 DOI: 10.1016/j.jgg.2025.04.004

Yan Huang, Zhenglong Xiang, Yaqin Xiang, Hu Pan, Mei He, Zhenming Guo, Oguz Kanca, Chen Liu, Zhao Zhang, Huaizhe Zhan, Yuan Wang, Qing-Ran Bai, Hugo J Bellen, Hua Wang, Shan Bian, Xiao Mao

{"title":"Biallelic MED16 variants disrupt neural development and lead to an intellectual disability syndrome.","authors":"Yan Huang, Zhenglong Xiang, Yaqin Xiang, Hu Pan, Mei He, Zhenming Guo, Oguz Kanca, Chen Liu, Zhao Zhang, Huaizhe Zhan, Yuan Wang, Qing-Ran Bai, Hugo J Bellen, Hua Wang, Shan Bian, Xiao Mao","doi":"10.1016/j.jgg.2025.04.004","DOIUrl":"10.1016/j.jgg.2025.04.004","url":null,"abstract":"Mediator Complex Subunit 16 (MED16, MIM: 604062) is a member of the Mediator complex, which controls many aspects of transcriptional activity in all eukaryotes. Here, we report two individuals from a non-consanguineous family with biallelic variants in MED16 identified by exome sequencing. The affected individuals present with global developmental delay, intellectual disability, and dysmorphisms. To assess the pathogenicity of the variants, functional studies are performed in Drosophila and patient-derived cells. The fly ortholog med16 is expressed in neurons and some glia of the developing central nervous system (CNS). Loss of med16 leads to a reduction in eclosion and lifespan, as well as impaired synaptic transmission. In neurons differentiated from the patient-derived induced pluripotent stem cells (iPSCs), the neurite outgrowth is impaired and rescued by expression of exogenous MED16. The patient-associated variants behave as loss-of-function (LoF) alleles in flies and iPSCs. Additionally, the transcription of genes related to neuronal maturation and function is preferentially altered in patient cells relative to differentiated H9 controls. In summary, our findings support that MED16 is important for appropriate development and function, and that biallelic MED16 variants cause a neurodevelopmental disease.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":"1189-1198"},"PeriodicalIF":7.1,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144053240","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

Coordinated regulation of cortical astrocyte maturation by OLIG1 and OLIG2 through BMP7 signaling modulation. 通过BMP7信号调节，OLIG1和OLIG2协调调节皮质星形胶质细胞成熟。

IF 7.1 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-10-01 Epub Date: 2025-03-24 DOI: 10.1016/j.jgg.2025.03.008

Ziwu Wang, Yu Tian, Tongye Fu, Feihong Yang, Jialin Li, Lin Yang, Wen Zhang, Wenhui Zheng, Xin Jiang, Zhejun Xu, Yan You, Xiaosu Li, Guoping Liu, Yunli Xie, Zhengang Yang, Dashi Qi, Zhuangzhi Zhang

{"title":"Coordinated regulation of cortical astrocyte maturation by OLIG1 and OLIG2 through BMP7 signaling modulation.","authors":"Ziwu Wang, Yu Tian, Tongye Fu, Feihong Yang, Jialin Li, Lin Yang, Wen Zhang, Wenhui Zheng, Xin Jiang, Zhejun Xu, Yan You, Xiaosu Li, Guoping Liu, Yunli Xie, Zhengang Yang, Dashi Qi, Zhuangzhi Zhang","doi":"10.1016/j.jgg.2025.03.008","DOIUrl":"10.1016/j.jgg.2025.03.008","url":null,"abstract":"Astrocyte maturation is crucial for brain function, yet the mechanisms regulating this process remain poorly understood. In this study, we identify the bHLH transcription factors Olig1 and Olig2 as essential coordinators of cortical astrocyte maturation. We demonstrate that Olig1 and Olig2 work synergistically to regulate cortical astrocyte maturation by modulating Bmp7 expression. Genetic ablation of both Olig1 and Olig2 results in defective astrocyte morphology, including reduced process complexity and an immature gene expression profile. Single-cell RNA sequencing reveals a shift towards a less mature astrocyte state, marked by elevated levels of HOPX and GFAP, resembling human astrocytes. Mechanistically, Olig1 and Olig2 bind directly to the Bmp7 enhancer, repressing its expression to promote astrocyte maturation. Overexpression of Bmp7 in vivo replicates the astrocyte defects seen in Olig1/2 double mutants, confirming the critical role of BMP7 signaling in this process. These findings provide insights into the transcriptional and signaling pathways regulating astrocyte development and highlight Olig1 and Olig2 as key regulators of cortical astrocyte maturation, with potential implications for understanding glial dysfunction in neurological diseases.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":"1224-1237"},"PeriodicalIF":7.1,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143733257","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

The phospholipid scramblase PLSCR5 is regulated by POU4F3 and required for hair cell stereocilia homeostasis and auditory functions. 磷脂转录酶PLSCR5受POU4F3调控，是毛细胞立体纤毛稳态和听觉功能所必需的。

IF 7.1 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-10-01 Epub Date: 2025-03-09 DOI: 10.1016/j.jgg.2025.03.003

Sihao Gong, Qing Liu, Haibo Du, Linqing Zhang, Chengwen Zhu, Zhigang Xu, Xia Gao, Guang-Jie Zhu, Guoqiang Wan

引用次数: 0