Rare inherited missense variants of POGZ associate with autism risk and disrupt neuronal development
Publication date: Available online 18 May 2019Source: Journal of Genetics and GenomicsAuthor(s): Wenjing Zhao, Jieqiong Tan, Tengfei Zhu, Jianjun Ou, Ying Li, Lu Shen, Huidan Wu, Lin Han, Yanling Liu, Xiangbin Jia, Ting Bai, Honghui Li, Xiaoyan Ke, Jingping Zhao, Xiaobing Zou, Zhengmao Hu, Hui Guo, Kun XiaAbstractExcess de novo likely gene-disruptive and missense variants within dozens of genes have been identified in autism spectrum disorder (ASD) and other neurodevelopmental disorders. However, many rare inherited missense variants of these high-risk genes have not been thoroughly evaluated. Here, we analyzed the rare mi...
Source: Journal of Genetics and Genomics - May 18, 2019 Category: Genetics & Stem Cells Source Type: research
mTOR/miR-145-regulated exosomal GOLM1 promotes hepatocellular carcinoma through augmented GSK-3β/MMPs
In this study, we demonstrated that the mammalian target of rapamycin (mTOR) was a negative regulator of microRNA-145 (miR-145) expression. miR-145 inhibited GOLM1 expression by targeting a coding sequence of GOLM1 gene. GOLM1 and miR-145 were inversely correlated in human HCC tissues. GOLM1-enriched exosomes activated the glycogen synthase kinase-3β/matrix metalloproteinases (GSK-3β/MMPs) signaling axis of recipient cells and accelerated cell proliferation and migration. In contrast, miR-145 suppressed tumorigenesis and metastasis. We suggest that mTOR/miR-145/GOLM1 signaling pathway should be targeted for HCC treatment...
Source: Journal of Genetics and Genomics - May 18, 2019 Category: Genetics & Stem Cells Source Type: research
Ciliopathy-associated proteins are involved in vesicle distribution in sensory cilia
Publication date: Available online 15 May 2019Source: Journal of Genetics and GenomicsAuthor(s): Ming Li, Wanzhong He, Wei Li, Guangshuo Ou (Source: Journal of Genetics and Genomics)
Source: Journal of Genetics and Genomics - May 16, 2019 Category: Genetics & Stem Cells Source Type: research
Understanding human diseases using Drosophila
Publication date: Available online 26 April 2019Source: Journal of Genetics and GenomicsAuthor(s): Jun-Yuan Ji, Chun Han, Wu-Min Deng (Source: Journal of Genetics and Genomics)
Source: Journal of Genetics and Genomics - April 27, 2019 Category: Genetics & Stem Cells Source Type: research
Organelle aging: lessons from model organisms
Publication date: Available online 25 April 2019Source: Journal of Genetics and GenomicsAuthor(s): Mark Bouska, Kerui Huang, Ping Kang, Hua BaiAbstractMost cellular processes descend into failure during aging. While a large collection of longevity pathways has been identified in the past decades, the mechanism for age-related decline of cellular homeostasis and organelle function remains largely unsolved. It is known that many organelles undergo structural and functional changes during normal aging, which significantly contributes to the decline of tissue function at old ages. Since recent studies have revealed an emerging...
Source: Journal of Genetics and Genomics - April 25, 2019 Category: Genetics & Stem Cells Source Type: research
Understanding the importance of autophagy in human diseases using Drosophila
Publication date: Available online 23 April 2019Source: Journal of Genetics and GenomicsAuthor(s): Arindam Bhattacharjee, Áron Szabó, Tamás Csizmadia, Hajnalka Laczkó-Dobos, Gábor JuhászAbstractAutophagy is a lysosome-dependent intracellular degradation pathway that has been implicated in the pathogenesis of various human diseases, either positively or negatively impacting disease outcomes depending on the specific context. The majority of medical conditions including cancer, neurodegenerative diseases, infections and immune system disorders and inflammatory bowel disease could probably benefit from therapeutic modul...
Source: Journal of Genetics and Genomics - April 25, 2019 Category: Genetics & Stem Cells Source Type: research
Human mitochondrial DNA diseases and Drosophila models
Publication date: Available online 23 April 2019Source: Journal of Genetics and GenomicsAuthor(s): Zhe Chen, Fan Zhang, Hong XuAbstractMutations that disrupt the mitochondrial genome cause a number of human diseases whose phenotypic presentation varies widely among tissues and individuals. This variability owes in part to the unconventional genetics of mitochondrial DNA (mtDNA), which includes polyploidy, maternal inheritance and dependence on nuclear-encoded factors. The recent development of genetic tools for manipulating mitochondrial genome in Drosophila melanogaster renders this powerful model organism an attractive a...
Source: Journal of Genetics and Genomics - April 23, 2019 Category: Genetics & Stem Cells Source Type: research
Die in pieces: How Drosophila sheds light on neurite degeneration and clearance
Publication date: Available online 23 April 2019Source: Journal of Genetics and GenomicsAuthor(s): Maria L. Sapar, Chun HanAbstractDendrites and axons are delicate neuronal membrane extensions that undergo degeneration after physical injuries. In neurodegenerative diseases, these processes often degenerate prior to neuronal death. Understanding the mechanisms of neurite degeneration has been an intense focus of neurobiology research in the last two decades. As a result, many discoveries have been made in the molecular pathways that lead to neurite degeneration and the cell-cell interactions responsible for the subsequent c...
Source: Journal of Genetics and Genomics - April 23, 2019 Category: Genetics & Stem Cells Source Type: research
HDAC6 regulates lipid droplet turnover in response to nutrient deprivation via p62-mediated selective autophagy
In this study, we show that Drosophila histone deacetylase 6 (dHDAC6), a key regulator of selective autophagy, is required for the LD turnover in the hepatocyte-like oenocytes in response to starvation. HDAC6 regulates LD turnover via p62/SQSTM1-mediated aggresome formation, suggesting that the selective autophagy machinery is required for LD recognition and degradation. Furthermore, our results show that the loss of dHDAC6 causes steatosis in response to starvation. Our findings suggest that there is a potential link between selective autophagy and susceptible predisposition to lipid metabolism associated diseases in stre...
Source: Journal of Genetics and Genomics - April 22, 2019 Category: Genetics & Stem Cells Source Type: research
Perspectives on gene expression regulation techniques in Drosophila
Publication date: Available online 17 April 2019Source: Journal of Genetics and GenomicsAuthor(s): Rong-Gang Xu, Xia Wang, Da Shen, Jin Sun, Huan-Huan Qiao, Fang Wang, Lu-Ping Liu, Jian-Quan NiAbstractGene expression regulation, including loss-of-function and gain-of-function assays, is a powerful method to study developmental and disease mechanisms. Drosophila melanogaster is an ideal model system particularly well-equipped with many genetic tools. In this review, we describe and discuss the gene expression regulation techniques recently developed and their applications, including the CRISPR/Cas9-triggered heritable mutat...
Source: Journal of Genetics and Genomics - April 19, 2019 Category: Genetics & Stem Cells Source Type: research
An effective strategy to establish a male sterility mutant mini-library by CRISPR/Cas9-mediated knockout of anther-specific genes in rice
Publication date: Available online 9 April 2019Source: Journal of Genetics and GenomicsAuthor(s): Kun Ma, Jingluan Han, Yu Hao, Zhongfang Yang, Junyu Chen, Yao-Guang Liu, Qinlong Zhu, Letian Chen (Source: Journal of Genetics and Genomics)
Source: Journal of Genetics and Genomics - April 9, 2019 Category: Genetics & Stem Cells Source Type: research
Plant genome editing using xCas9 with expanded PAM compatibility
Publication date: Available online 5 April 2019Source: Journal of Genetics and GenomicsAuthor(s): Jingying Li, Jinman Luo, Meilian Xu, Shaoya Li, Jiahui Zhang, Huiyuan Li, Lei Yan, Yunde Zhao, Lanqin Xia (Source: Journal of Genetics and Genomics)
Source: Journal of Genetics and Genomics - April 6, 2019 Category: Genetics & Stem Cells Source Type: research
Lipid storage regulator CdsA is essential for Drosophila metamorphosis
Publication date: Available online 3 April 2019Source: Journal of Genetics and GenomicsAuthor(s): Yuan Liu, Yuan Ji, Xia Li, Guanghou Shui, Xun Huang (Source: Journal of Genetics and Genomics)
Source: Journal of Genetics and Genomics - April 5, 2019 Category: Genetics & Stem Cells Source Type: research
IBM1-dependent H3K9 demethylation enables self-silencing of an exogenous silencer for the non-cell autonomous silencing of an endogenous target gene
Publication date: Available online 23 March 2019Source: Journal of Genetics and GenomicsAuthor(s): Xiaolan Liu, Jianhua Zhao, Hui-Shan Guo (Source: Journal of Genetics and Genomics)
Source: Journal of Genetics and Genomics - March 24, 2019 Category: Genetics & Stem Cells Source Type: research
Arabidopsis AGC protein kinases IREH1 and IRE3 control root skewing
Publication date: Available online 22 March 2019Source: Journal of Genetics and GenomicsAuthor(s): Xiaozhen Yue, Zhiai Guo, Teng Shi, Lizhen Song, Youfa ChengAbstractAGC protein kinases play important roles in plant growth and development. Several AGC kinases in Arabidopsis have been functionally characterized. However, the “AGC Other” subfamily, including IRE, IREH1, IRE3 and IRE4, has not been well understood. Here, we reported that ireh1 mutants displayed a root skewing phenotype, which can be enhanced by ire3 mutation. IREH1 and IRE3 were expressed in roots, consistent with their function in controlling root skewin...
Source: Journal of Genetics and Genomics - March 22, 2019 Category: Genetics & Stem Cells Source Type: research
