Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji Pub Date : 2024-07-01 DOI: 10.16288/j.yczz.24-106

Daiyuan Liu, Zhao-Hui Zhang, Xian-Jiang Kang

引用次数: 0

A case study of Duchenne muscular dystrophy caused by Alu element insertion in DMD gene and analysis of its gray-hair symptoms. 由 DMD 基因中的 Alu 元素插入引起的杜兴氏肌肉萎缩症病例研究及其灰发症状分析。

Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji Pub Date : 2024-07-01 DOI: 10.16288/j.yczz.24-020

Hui Li, Ru-Yi Zhang, Chang-Ye Li, Xiao-Lin Zhang, Qing-Yin Zheng, Xiu-Zhen Liu

{"title":"A case study of Duchenne muscular dystrophy caused by Alu element insertion in DMD gene and analysis of its gray-hair symptoms.","authors":"Hui Li, Ru-Yi Zhang, Chang-Ye Li, Xiao-Lin Zhang, Qing-Yin Zheng, Xiu-Zhen Liu","doi":"10.16288/j.yczz.24-020","DOIUrl":"10.16288/j.yczz.24-020","url":null,"abstract":"Duchenne muscular dystrophy (DMD) is a severe X-linked recessive genetic disorder caused by mutations in the DMD gene, which leads to a deficiency of the dystrophin protein. The main mutation types of this gene include exon deletions and duplications, point mutations, and insertions. These mutations disrupt the normal expression of dystrophin, ultimately leading to the disease. In this study, we reported a case of DMD caused by an insertion mutation in exon 59 (E59) of the DMD gene. The affected child exhibited significant abnormalities in related biochemical markers, early symptoms of DMD, and multiple gray hair. His mother and sister were carriers with slightly abnormal biochemical markers. The mother had mild clinical symptoms, while the sister had no clinical symptoms. Other family members were genetically and physically normal. Sequencing and sequence alignment revealed that the inserted fragment was an Alu element from the AluYa5 subfamily. This insertion produced two stop codons and a polyadenylate (polyA) tail. To understand the impact of this insertion on the DMD gene and its association with clinical symptoms, exonic splicing enhancer (ESE) prediction indicated that the insertion did not affect the splicing of E59. Therefore, we speculated that the insertion sequence would be present in the mRNA sequence of the DMD gene. The two stop codons and polyA tail likely terminate translation, preventing the production of functional dystrophin protein, which may be the mechanism leading to DMD. In addition to typical DMD symptoms, the child also exhibited premature graying of hair. This study reports, for the first time, a case of DMD caused by the insertion of an Alu element into the coding region of the DMD gene. This finding provides clues for studying gene mutations induced by Alu sequence insertion and expands the understanding of DMD gene mutations.","PeriodicalId":35536,"journal":{"name":"Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji","volume":"46 7","pages":"570-580"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141627934","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}

引用次数: 0

The effect of centromere protein Fta2 phosphorylation during meiosis. 减数分裂过程中中心粒蛋白 Fta2 磷酸化的影响

Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji Pub Date : 2024-07-01 DOI: 10.16288/j.yczz.24-038

Zi-Han Ni, Yu Min, Ling-Ling Ma, Yoshinori Watanabe

{"title":"The effect of centromere protein Fta2 phosphorylation during meiosis.","authors":"Zi-Han Ni, Yu Min, Ling-Ling Ma, Yoshinori Watanabe","doi":"10.16288/j.yczz.24-038","DOIUrl":"10.16288/j.yczz.24-038","url":null,"abstract":"During meiosis, defects in cohesin localization within the centromere region can result in various diseases. Accurate cohesin localization depends on the Mis4-Ssl3 loading complex. Although it is known that cohesin completes the loading process with the help of the loading complex, the mechanisms underlying its localization in the centromere region remain unclear. Previous studies suggest cohesin localization in the centromere is mediated by phosphorylation of centromeric proteins. In this study, we focused on the Fta2 protein, a component of the Sim4 centromere protein complex. Using bioinformatics methods, potential phosphorylation sites were identified, and fta2-9A and fta2-9D mutants were constructed in Schizosaccharomyces pombe. The phenotypes of these mutants were characterized through testing thiabendazole (TBZ) sensitivity and fluorescent microscopy localization. Results indicated that Fta2 phosphorylation did not impact mitosis but affected chromosome segregation during meiosis. This study suggests that Fta2 phosphorylation is vital for meiosis and may be related to the specific localization of cohesin during this process.","PeriodicalId":35536,"journal":{"name":"Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji","volume":"46 7","pages":"552-559"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141627940","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}

引用次数: 0

Il34 rescues metronidazole-induced impairment of spinal cord regeneration in zebrafish central nervous system. Il34能挽救甲硝唑诱导的斑马鱼中枢神经系统脊髓再生障碍。

Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji Pub Date : 2024-06-20 DOI: 10.16288/j.yczz.24-083

Ji-Xiang Liu, Si-Ting Lai, Jing Bai, Jin Xu

{"title":"Il34 rescues metronidazole-induced impairment of spinal cord regeneration in zebrafish central nervous system.","authors":"Ji-Xiang Liu, Si-Ting Lai, Jing Bai, Jin Xu","doi":"10.16288/j.yczz.24-083","DOIUrl":"10.16288/j.yczz.24-083","url":null,"abstract":"Metronidazole (MTZ), a commonly used anti-infective drug in clinical practice, has also been employed as a prodrug in cell-targeted ablation systems in scientific research, exhibiting significant application value. However, it has been demonstrated that MTZ can induce neurotoxic symptoms to some extent during its use, and there is currently a lack of effective means to circumvent its toxicity in both clinical and research settings, which limits its application. Therefore, exploring the specific mechanisms underlying MTZ-induced neurotoxic symptoms and elucidating countermeasures will enhance the practical value of MTZ. In this study, using a zebrafish spinal cord injury regeneration model, we confirmed that MTZ neurotoxicity leads to impaired axon regeneration in the central nervous system. By overexpressing il34 in the central nervous system of zebrafish, we eliminated the inhibitory effect of MTZ on axonal regeneration and demonstrated that the pro-regenerative effect against MTZ neurotoxicity is not caused by excessive macrophages/microglia chemoattracted by interleukin 34(Il34). Transcriptome sequencing analysis and GO enrichment analysis of differentially expressed genes between groups revealed that Il34 may counteract MTZ neurotoxicity and promote spinal cord injury repair through biological processes that enhance cellular adhesion and cell location. In summary, our work uncovers a possible cause of MTZ neurotoxicity and provides a new perspective for eliminating MTZ toxicity.","PeriodicalId":35536,"journal":{"name":"Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji","volume":"46 6","pages":"478-489"},"PeriodicalIF":0.0,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141421209","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}

引用次数: 0

Retraction notice to "Tip60-FOXO regulates JNK signaling mediated apoptosis in Drosophila" [Yi Chuan 46(6) (2024) 490-501]. Tip60-FOXO调控果蝇中JNK信号介导的细胞凋亡》的撤稿通知[《易传》46(6) (2024) 490-501]。

Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji Pub Date : 2024-06-20 DOI: 10.16288/j.yczz.24-095

引用次数: 0

Progress on the role of LIN28A/B in tumor development and progression. LIN28A/B 在肿瘤发生和发展中的作用研究取得进展。

Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji Pub Date : 2024-06-20 DOI: 10.16288/j.yczz.24-056

Yi-Wen Zhang, Qin Huang, Yan-Yun Wu, Yue Sun, Yong-Long Wei

引用次数: 0

Tip60-FOXO regulates JNK signaling mediated apoptosis in Drosophila. Tip60-FOXO调节果蝇体内JNK信号介导的细胞凋亡。

Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji Pub Date : 2024-06-20 DOI: 10.16288/j.yczz.24-105

Jian Yang, Guo-Juan Shi, Ang-Hui Peng, Qing-Bo Xu, Rui-Qi Wang, Lei Xue, Xin-Yang Yu, Yi-Hao Sun

{"title":"Tip60-FOXO regulates JNK signaling mediated apoptosis in Drosophila.","authors":"Jian Yang, Guo-Juan Shi, Ang-Hui Peng, Qing-Bo Xu, Rui-Qi Wang, Lei Xue, Xin-Yang Yu, Yi-Hao Sun","doi":"10.16288/j.yczz.24-105","DOIUrl":"10.16288/j.yczz.24-105","url":null,"abstract":"The JNK signaling pathway plays crucial roles in various physiological processes, including cell proliferation, differentiation, migration, apoptosis, and stress response. Dysregulation of this pathway is closely linked to the onset and progression of numerous major diseases, such as developmental defects and tumors. Identifying and characterizing novel components of the JNK signaling pathway to enhance and refine its network hold significant scientific and clinical importance for the prevention and treatment of associated cancers. This study utilized the model organism Drosophila and employed multidisciplinary approaches encompassing genetics, developmental biology, biochemistry, and molecular biology to investigate the interplay between Tip60 and the JNK signaling pathway, and elucidated its regulatory mechanisms. Our findings suggest that loss of Tip60 acetyltransferase activity results in JNK signaling pathway activation and subsequent induction of JNK-dependent apoptosis. Genetic epistasis analysis reveals that Tip60 acts downstream of JNK, paralleling with the transcription factor FOXO. The biochemical results confirm that Tip60 can bind to FOXO and acetylate it. Introduction of human Tip60 into Drosophila effectively mitigates apoptosis induced by JNK signaling activation, underscoring conserved regulatory role of Tip60 in the JNK signaling pathway from Drosophila to humans. This study further enhances our understanding of the regulatory network of the JNK signaling pathway. By revealing the role and mechanism of Tip60 in JNK-dependent apoptosis, it unveils new insights and potential therapeutic avenues for preventing and treating associated cancers.","PeriodicalId":35536,"journal":{"name":"Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji","volume":"46 6","pages":"490-501"},"PeriodicalIF":0.0,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141421213","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}

引用次数: 0

Comparison and optimization of different CRISPR/Cas9 donor-adapting systems for gene editing. 比较和优化用于基因编辑的不同 CRISPR/Cas9 供体适配系统。

Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji Pub Date : 2024-06-20 DOI: 10.16288/j.yczz.23-273

Bao-Xia Ma, Sen Yang, Ming Lyu, Yu-Ren Wang, Li-Ye Chang, Yi-Fan Han, Jian-Gang Wang, Yang Guo, Kun Xu

{"title":"Comparison and optimization of different CRISPR/Cas9 donor-adapting systems for gene editing.","authors":"Bao-Xia Ma, Sen Yang, Ming Lyu, Yu-Ren Wang, Li-Ye Chang, Yi-Fan Han, Jian-Gang Wang, Yang Guo, Kun Xu","doi":"10.16288/j.yczz.23-273","DOIUrl":"10.16288/j.yczz.23-273","url":null,"abstract":"Gene knock-in in mammalian cells usually uses homology-directed repair (HDR) mechanism to integrate exogenous DNA template into the target genome site. However, HDR efficiency is often low, and the co-localization of exogenous DNA template and target genome site is one of the key limiting factors. To improve the efficiency of HDR mediated by CRISPR/Cas9 system, our team and previous studies fused different adaptor proteins with SpCas9 protein and expressed them. By using their characteristics of binding to specific DNA sequences, many different CRISPR/SpCas9 donor adapter gene editing systems were constructed. In this study, we used them to knock-in eGFP gene at the 3'-end of the terminal exon of GAPDH and ACTB genes in HEK293T cells to facilitate a comparison and optimization of these systems. We utilized an optimized donor DNA template design method, validated the knock-in accuracy via PCR and Sanger sequencing, and assessed the efficiency using flow cytometry. The results showed that the fusion of yGal4BD, hGal4BD, hLacI, hTHAP11 as well as N57 and other adaptor proteins with the C-terminus of SpCas9 protein had no significant effect on its activity. At the GAPDH site, the donor adapter systems of SpCas9 fused with yGal4BD, hGal4BD, hLacI and hTHAP11 significantly improved the knock-in efficiency. At the ACTB site, SpCas9 fused with yGal4BD and hGal4BD significantly improved the knock-in efficiency. Furthermore, increasing the number of BS in the donor DNA template was beneficial to enhance the knock-in efficiency mediated by SpCas9-hTHAP11 system. In conclusion, this study compares and optimizes multiple CRISPR/Cas9 donor adapter gene editing systems, providing valuable insights for future gene editing applications.","PeriodicalId":35536,"journal":{"name":"Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji","volume":"46 6","pages":"466-477"},"PeriodicalIF":0.0,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141421208","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}

引用次数: 0

Ssu72 phosphatase deficiency leads to spindle crossing during the second meiotic division process. Ssu72 磷酸酶缺乏会导致减数第二次分裂过程中的纺锤体交叉。

Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji Pub Date : 2024-06-20 DOI: 10.16288/j.yczz.24-047

Jing-Liang Yan, Ling-Ling Ma, Yoshinori Watanabe

引用次数: 0

The roles of branched-chain amino acids metabolism in tumorigenesis and progression. 支链氨基酸代谢在肿瘤发生和发展中的作用。

Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji Pub Date : 2024-06-20 DOI: 10.16288/j.yczz.24-095

Shen Yuan, Li Jin-Tao, Yin Miao, Lei Qun-Ying

引用次数: 0

遗传最新文献