Journal of neurogenetics最新文献_第4页

History of Drosophila neurogenetic research in South Korea. 韩国果蝇神经遗传学研究的历史。

IF 1.9 4区医学

Journal of neurogenetics Pub Date : 2023-03-01 DOI: 10.1080/01677063.2022.2115040

Greg S B Suh, Kweon Yu, Young-Joon Kim, Yangkyun Oh, Joong-Jean Park

引用次数: 1

Editorial/preface: Neurogenetics innovation in South Korea. 社论/前言:韩国的神经遗传学创新。

IF 1.9 4区医学

Journal of neurogenetics Pub Date : 2023-03-01 DOI: 10.1080/01677063.2023.2216054

Jing W Wang, Greg S B Suh, Chun-Fang Wu

{"title":"Editorial/preface: Neurogenetics innovation in South Korea.","authors":"Jing W Wang, Greg S B Suh, Chun-Fang Wu","doi":"10.1080/01677063.2023.2216054","DOIUrl":"https://doi.org/10.1080/01677063.2023.2216054","url":null,"abstract":"Expanding the representation of research from countries beyond Europe and North America is a goal for the Journal of Neurogenetics. This special issue is designed to highlight the flourishing discipline of Drosophila neurogenetics in South Korea. The aim is to provide readers with a snapshot of the diverse research areas that are at the cutting edge of the field. Neurogenetics, the single-gene approach to study a wide range of neurobiological phenomena from the assembly of the nervous system, neurophysiology and circuit function to animal behaviors, has withstood early criticisms. Today, it stands as a fullyfledged and flourishing field. Early research efforts were focused on neural development and behavior, for which many genetic tools were produced. As these tools became more sophisticated, they were utilized to delve deeper and provide better mechanistic insights. The evolution of Drosophila neurogenetics in South Korea remarkably mirrors this progression. In the 1990s, a vast array of mutant lines was generated to study neural development, which enabled researchers to extend their investigations beyond their original questions. This expansion of research horizons fueled the creation of new and more advanced genetic reagents. This cycle of innovating with old tools, which eventually leads to the development of new ones, is a perfect encapsulation of the spirit of neurogenetics. This special issue is structured into four sections, beginning with the molecular mechanisms of neurodegeneration (Cha et al., 2022; Lee, Jo, et al., 2022), followed by the sensory modulation of sleep and arousal (Kim et al., 2022; Lee & Lim, 2022), then the use of machine learning to interrogate animal behaviors (Kim, An, et al., 2023; Kim, Kim, et al., 2023), and finally, nutrient sensors in feeding and non-feeding behaviors (Oh & Suh, 2022; Kim et al., 2023; Yoon et al., 2022). These studies offer exciting new findings as well as sketch out the future directions for the field in South Korea and around the world.","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":"37 1-2","pages":"1-2"},"PeriodicalIF":1.9,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10173262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

PTK2 regulates tau-induced neurotoxicity via phosphorylation of p62 at Ser403. PTK2通过p62 Ser403位点的磷酸化调节tau诱导的神经毒性。

IF 1.9 4区医学

Journal of neurogenetics Pub Date : 2023-03-01 DOI: 10.1080/01677063.2022.2114471

Shinrye Lee, Myungjin Jo, Younghwi Kwon, Yu-Mi Jeon, Seyeon Kim, Kea Joo Lee, Hyung-Jun Kim

{"title":"PTK2 regulates tau-induced neurotoxicity via phosphorylation of p62 at Ser403.","authors":"Shinrye Lee, Myungjin Jo, Younghwi Kwon, Yu-Mi Jeon, Seyeon Kim, Kea Joo Lee, Hyung-Jun Kim","doi":"10.1080/01677063.2022.2114471","DOIUrl":"https://doi.org/10.1080/01677063.2022.2114471","url":null,"abstract":"Tau is a microtubule-associated protein that forms insoluble filaments that accumulate as neurofibrillary tangles in neurodegenerative diseases such as Alzheimer's disease and other related tauopathies. A relationship between abnormal Tau accumulation and ubiquitin-proteasome system impairment has been reported. However, the molecular mechanism linking Tau accumulation and ubiquitin proteasome system (UPS) dysfunction remains unclear. Here, we show that overexpression of wild-type or mutant (P301L) Tau increases the abundance of polyubiquitinated proteins and activates the autophagy-lysosome pathway in mammalian neuronal cells. Previous studies found that PTK2 inhibition mitigates toxicity induced by UPS impairment. Thus, we investigated whether PTK2 inhibition can attenuate Tau-induced UPS impairment and cell toxicity. We found that PTK2 inhibition significantly reduces Tau-induced death in mammalian neuronal cells. Moreover, overexpression of WT or mutant Tau increased the phosphorylation levels of PTK2 and p62. We also confirmed that PTK2 inhibition suppresses Tau-induced phosphorylation of PTK2 and p62. Furthermore, PTK2 inhibition significantly attenuated the climbing defect and shortened the lifespan in the Drosophila model of tauopathy. In addition, we observed that phosphorylation of p62 is markedly increased in Alzheimer's disease patients with tauopathies. Taken together, our results indicate that the UPS dysfunction induced by Tau accumulation might contribute directly to neurodegeneration in tauopathies and that PTK2 could be a promising therapeutic target for tauopathies.","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":"37 1-2","pages":"10-19"},"PeriodicalIF":1.9,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9782169","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Evaluation of mouse behavioral responses to nutritive versus nonnutritive sugar using a deep learning-based 3D real-time pose estimation system. 使用基于深度学习的三维实时姿态估计系统评估小鼠对营养糖和非营养糖的行为反应。

IF 1.9 4区医学

Journal of neurogenetics Pub Date : 2023-03-01 DOI: 10.1080/01677063.2023.2174982

Jineun Kim, Dae-Gun Kim, Wongyo Jung, Greg S B Suh

{"title":"Evaluation of mouse behavioral responses to nutritive versus nonnutritive sugar using a deep learning-based 3D real-time pose estimation system.","authors":"Jineun Kim, Dae-Gun Kim, Wongyo Jung, Greg S B Suh","doi":"10.1080/01677063.2023.2174982","DOIUrl":"https://doi.org/10.1080/01677063.2023.2174982","url":null,"abstract":"Animals are able to detect the nutritional content of sugar independently of taste. When given a choice between nutritive sugar and nonnutritive sugar, animals develop a preference for nutritive sugar over nonnutritive sugar during a period of food deprivation (Buchanan et al., 2022; Dus et al., 2011; 2015; Tan et al., 2020; Tellez et al., 2016). To quantify behavioral features during an episode of licking nutritive versus nonnutritive sugar, we implemented a multi-vision, deep learning-based 3D pose estimation system, termed the AI Vision Analysis for Three-dimensional Action in Real-Time (AVATAR)(Kim et al., 2022). Using this method, we found that mice exhibit significantly different approach behavioral responses toward nutritive sugar versus nonnutritive sugar even before licking a sugar solution. Notably, the behavioral sequences during the approach toward nutritive versus nonnutritive sugar became significantly different over time. These results suggest that the nutritional value of sugar not only promotes its consumption but also elicits distinct repertoires of feeding behavior in deprived mice.","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":"37 1-2","pages":"78-83"},"PeriodicalIF":1.9,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9787480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Inter-organ regulation by the brain in Drosophila development and physiology. 果蝇发育和生理中大脑的器官间调节。

IF 1.9 4区医学

Journal of neurogenetics Pub Date : 2023-03-01 DOI: 10.1080/01677063.2022.2137162

Sunggyu Yoon, Mingyu Shin, Jiwon Shim

{"title":"Inter-organ regulation by the brain in Drosophila development and physiology.","authors":"Sunggyu Yoon, Mingyu Shin, Jiwon Shim","doi":"10.1080/01677063.2022.2137162","DOIUrl":"https://doi.org/10.1080/01677063.2022.2137162","url":null,"abstract":"The brain plays an essential role in regulating physiological homeostasis by communicating with other organs. Neuronal cells either directly innervate target tissues and transmit signals or secrete systemic factors into the hemolymph to regulate bodily functions, including physiology, development, metabolism, and immunity. In this review, we discuss the systemic functions of inter-organ communication mediated by the brain in four distinct categories: (1) nutrient sensing and feeding, (2) gastrointestinal activity and metabolism, (3) development and metamorphosis, and (4) immunity and hematopoiesis. First, we describe how chemosensory signals are sensed and transmitted to the brain in Drosophila and how the brain stimulates or modifies feeding behavior. Second, we summarize the brain-organ axis that regulates appetite activities and neuroendocrine pathways that maintain metabolic homeostasis. Third, we discuss how overall development in Drosophila is achieved by insulin and how it affects ecdysone signaling to initiate pupariation. Finally, we discuss how the central or peripheral nervous system controls hematopoiesis and innate immunity in Drosophila larvae. Given the functional parallels between Drosophila and humans, homologous pathways are likely to be conserved in human development and disease models, and the fly model system will continue to provide mechanistic insights into understanding complex interactions.","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":"37 1-2","pages":"57-69"},"PeriodicalIF":1.9,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9776568","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Circadian gating of light-induced arousal in Drosophila sleep. 果蝇睡眠中光诱导觉醒的昼夜节律门控。

IF 1.9 4区医学

Journal of neurogenetics Pub Date : 2023-03-01 DOI: 10.1080/01677063.2022.2151596

Hoyeon Lee, Chunghun Lim

{"title":"Circadian gating of light-induced arousal in Drosophila sleep.","authors":"Hoyeon Lee, Chunghun Lim","doi":"10.1080/01677063.2022.2151596","DOIUrl":"https://doi.org/10.1080/01677063.2022.2151596","url":null,"abstract":"Circadian rhythms and sleep homeostasis constitute the two-process model for daily sleep regulation. However, evidence for circadian control of sleep-wake cycles has been relatively short since clock-less animals often show sleep behaviors quantitatively comparable to wild-type. Here we examine Drosophila sleep behaviors under different light-dark regimes and demonstrate that circadian clocks gate light-induced arousal. Genetic excitation of tyrosine decarboxylase 2 (TDC2)-expressing neurons suppressed sleep more evidently at night, causing nocturnal activity. The arousal effects were likely mediated in part by glutamate transmission from the octopaminergic neurons and substantially masked by light. Application of T12 cycles (6-h light: 6-h dark) further showed that the light-sensitive effects of TDC2 neurons depended on the time of the day. In particular, light-sensing via visual input pathway led to strong sleep suppression at subjective night, and such an effect disappeared in clock-less mutants. Transgenic mapping revealed that light-induced arousal and free-running behavioral rhythms require distinct groups of circadian pacemaker neurons. These results provide convincing evidence that circadian control of sleep is mediated by the dedicated clock neurons for light-induced arousal.","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":"37 1-2","pages":"36-46"},"PeriodicalIF":1.9,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9783262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

TERT distal promoter GC islands are critical for telomerase and together with DNMT3B silencing may serve as a senescence-inducing agent in gliomas. TERT远端启动子GC岛对端粒酶至关重要，与DNMT3B沉默一起可能作为胶质瘤的衰老诱导剂。

IF 1.9 4区医学

Journal of neurogenetics Pub Date : 2022-09-01 DOI: 10.1080/01677063.2022.2106371

Naz Şerifoğlu, Begün Erbaba, Michelle M Adams, Ayça Arslan-Ergül

{"title":"TERT distal promoter GC islands are critical for telomerase and together with DNMT3B silencing may serve as a senescence-inducing agent in gliomas.","authors":"Naz Şerifoğlu, Begün Erbaba, Michelle M Adams, Ayça Arslan-Ergül","doi":"10.1080/01677063.2022.2106371","DOIUrl":"https://doi.org/10.1080/01677063.2022.2106371","url":null,"abstract":"Telomerase is reactivated in the majority of cancers. For instance, in gliomas, it is common that the TERT promoter is mutated. Research on telomere promoter GC islands have been focused primarily on proximal TERT promoter but little is known about the distal promoter. Therefore, in this study, we investigated the proximal and distal TERT promoter, in terms of DNA methylation. We did bisulfite sequencing in zebrafish tissue samples for the distal tert promoter. In the zebrafish brain tissues, we identified a hypomethylation site in the tert promoter, and found that this hypomethylation was associated with aging and shortened telomeres. Through site directed mutagenesis in glioma cell lines, we changed 10 GC spots individually, cloned into a reporter vector, and measured promoter activity. Finally, we silenced DNMT3B and measured telomerase activity along with vidaza and adriamycin treatments. Site directed mutagenesis of glioma cell lines revealed that each of the 10 GC spots are critical for telomerase activity. Changing GC to AT abolished promoter activity in all spots when transfected into glioma cell lines. Then, through silencing of DNMT3B, we observed a reduction in hTERT expression levels, while hTR remained the same, and a major increase in senescence-associated beta-galactosidase activity. Finally, we propose a model regarding the efficacy of two chemotherapeutic drugs, adriamycin and azacytidine, on gliomas. Here, we show that distal TERT promoter is critical; changing even one GC to AT abolishes TERT promoter activity. DNMT3B, a de novo methyltransferase, together with GC islands in distal TERT promoter plays an important role in regulation of telomerase expression and senescence.","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":"36 4","pages":"89-97"},"PeriodicalIF":1.9,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10477786","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay. 表型扩展:在进行性小头畸形和整体发育迟缓患者中发现的MED17新纯合变异

IF 1.9 4区医学

Journal of neurogenetics Pub Date : 2022-09-01 DOI: 10.1080/01677063.2022.2149748

Rafiullah Rafiullah, Alia M Albalawi, Sultan R Alaradi, Majed Alluqmani, Muhammad Mushtaq, Abdul Wali, Sulman Basit

{"title":"An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay.","authors":"Rafiullah Rafiullah, Alia M Albalawi, Sultan R Alaradi, Majed Alluqmani, Muhammad Mushtaq, Abdul Wali, Sulman Basit","doi":"10.1080/01677063.2022.2149748","DOIUrl":"https://doi.org/10.1080/01677063.2022.2149748","url":null,"abstract":"Global developmental delay (GDD) is a lifelong disability that affects 1-3% of the population around the globe. It is phenotypically variable and highly heterogeneous in terms of the underlying genetics. Patients with GDD are intellectually disabled (ID) manifesting cognitive impairment and deficient adaptive behavior. Here, we investigated a two-looped consanguineous family segregating severe ID, seizure, and progressive microcephaly. Magnetic resonance imaging (MRI) of the brain showed mild brain atrophy and myelination defect. Whole exome sequencing (WES) was performed on the DNA samples of two patients and a novel homozygous missense variant (Chr11:g0.93528085; NM_004268.5_c.871T > C; p. Trp291Gly) was identified in the MED17 gene. Sanger sequencing revealed that the identified variant is heterozygous in both parents and healthy siblings. This variant is conserved among different species, causes a non-conserved amino acid change, and is predicted deleterious by various in silico tools. The variant is not reported in population variant databases. MED17 (OMIM: 613668) encodes for the mediator of RNA polymerase II transcription complex subunit 17. Structure modeling of MED17 protein revealed that Trp291 is involved in different inter-helical interactions, providing structural stability. Replacement of Trp291Gly, a less hydrophobic amino acid loses the inter-helical interaction leading to a perturb variant of MED17 protein.","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":"36 4","pages":"108-114"},"PeriodicalIF":1.9,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10484594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Possible association between the lrrk2 gene and anxiety behavior: a systematic literature review. lrrk2基因与焦虑行为之间可能存在的关联:一项系统的文献综述。

IF 1.9 4区医学

Journal of neurogenetics Pub Date : 2022-09-01 DOI: 10.1080/01677063.2022.2144293

R E Moreira-Júnior, R M Souza, J G de Carvalho, J P Bergamini, A L Brunialti-Godard

{"title":"Possible association between the lrrk2 gene and anxiety behavior: a systematic literature review.","authors":"R E Moreira-Júnior, R M Souza, J G de Carvalho, J P Bergamini, A L Brunialti-Godard","doi":"10.1080/01677063.2022.2144293","DOIUrl":"https://doi.org/10.1080/01677063.2022.2144293","url":null,"abstract":"Alterations to the LRRK2 gene have been associated with Parkinson's disease and alcohol consumption in animals and humans. Furthermore, these disorders are strongly related to anxiety disorders (ADs). Thus, we investigated how the LRRK2 gene might influence anxiety in humans and mice. We elaborated a systematic review based on the PRISMA Statement of studies that investigated levels of anxiety in animal or human models with alterations in the LRRK2 gene. The search was conducted in the PubMed, Scopus, and Web of Science databases, and in reference lists with descriptors related to ADs and the LRRK2. From the 62 articles assessed for eligibility, 16 were included: 11 conducted in humans and seven, in mice. Lrrk2 KO mice and the LRRK2 G2019S, LRRK2 R1441G, and LRRK2 R1441C variants were addressed. Five articles reported an increase in anxiety levels concerning the LRRK2 variants. Decreased anxiety levels were observed in two articles, one focusing on the LRRK2 G2019S and the other, on the Lrrk2 KO mice. Eight other articles reported no differences in anxiety levels in individuals with Lrrk2 alterations compared to their healthy controls. This study discusses a possible influence between the LRRK2 gene and anxiety, adding information to the existing knowledge respecting the influence of genetics on anxiety.","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":"36 4","pages":"98-107"},"PeriodicalIF":1.9,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10845372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Knockdown of PHLDA2 promotes apoptosis and autophagy of glioma cells through the AKT/mTOR pathway. PHLDA2的下调通过AKT/mTOR通路促进胶质瘤细胞凋亡和自噬。

IF 1.9 4区医学

Journal of neurogenetics Pub Date : 2022-03-01 DOI: 10.1080/01677063.2022.2096023

Chengyong Guo, Shuo Liu, Tao Zhang, Jipeng Yang, Zhaohui Liang, Shengkui Lu

引用次数: 0