DNA and cell biology最新文献_第7页

Analysis of the Imprinting Status and Expression of the MAGEL2 Gene During Initiation at Puberty in the Dolang Sheep. 多郎羊青春期发育过程中MAGEL2基因的表达及印迹状态分析。

DNA and cell biology Pub Date : 2023-11-01 Epub Date: 2023-10-16 DOI: 10.1089/dna.2023.0166

Yongjie Zhang, Zhiyuan Sui, Zhishuai Zhang, Chenguang Wang, Xiaojun Li, Feng Xing

{"title":"Analysis of the Imprinting Status and Expression of the MAGEL2 Gene During Initiation at Puberty in the Dolang Sheep.","authors":"Yongjie Zhang, Zhiyuan Sui, Zhishuai Zhang, Chenguang Wang, Xiaojun Li, Feng Xing","doi":"10.1089/dna.2023.0166","DOIUrl":"10.1089/dna.2023.0166","url":null,"abstract":"Genomic imprinting refers to the expression of parent-specific genes in diploid mammalian cells. MAGEL2 gene is a maternally imprinted gene that has been identified in mice and humans and is associated with the onset of puberty. The purpose of this study was to investigate its imprinting status and its relationship with the onset of puberty in Dolang sheep. The sequence of 3734 bp cDNA of MAGEL2 in Dolang sheep was obtained by cloning and sequencing, encoding 1173 amino acids. The results of the nucleotide and amino acid similarity analysis showed that it was highly conserved among different mammalian species. The MAGEL2 gene was expressed monoallelically in the tissues of adult and neonatal umbilical cords, and the expressed allele was paternally inherited. Real Time quantitative PCR (RT-qPCR) results showed that the MAGEL2 gene was highly expressed in the hypothalamus and pituitary gland, increased significantly from prepuberty to puberty, and decreased significantly after puberty. This study suggests that MAGEL2 is a paternally expressed and maternally imprinted gene in Dolang sheep, which may be involved in the initiation of puberty in Dolang sheep. This study provides a theoretical basis for further research on the mechanism of the imprinted gene MAGEL2 regulating the onset of puberty in sheep, and provides a new idea for the future research on the mechanism of onset of puberty in sheep.","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41242564","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

A Novel Role of ARA70 in Regulating Ferritinophagy of RGCs During Retinal Ischemia Reperfusion. ARA70在视网膜缺血再灌注过程中调节RGCs铁蛋白吞噬的新作用。

DNA and cell biology Pub Date : 2023-11-01 Epub Date: 2023-10-30 DOI: 10.1089/dna.2023.0077

Xin Dong, Zijian Zhang, Nannan Yu, Huanqi Shi, Lili Lin, Yongsheng Hou

{"title":"A Novel Role of ARA70 in Regulating Ferritinophagy of RGCs During Retinal Ischemia Reperfusion.","authors":"Xin Dong, Zijian Zhang, Nannan Yu, Huanqi Shi, Lili Lin, Yongsheng Hou","doi":"10.1089/dna.2023.0077","DOIUrl":"10.1089/dna.2023.0077","url":null,"abstract":"Although the contribution of ferroptosis, an iron-dependent cell death, to ischemia reperfusion (IR)-induced retinal injury has been reported before, to optimize therapeutic strategy, there is still an urgent need to identify potential candidates involved in this process. Androgen Receptor-Associated Protein of 70 kDa (ARA70) is a cargo receptor for ferritinophagy, and its role in retinal ferroptosis has not been revealed yet. Herein, we explored the role of ARA70 in IR-associated retinal lesions by in vivo (C57BL/6 J mice with intraocular pressure of 90-100 mmHg) and in vitro (retinal ganglion cells (RGCs) stimulated with tert-butyl hydroperoxide (tBH)) experiments. It was found that IR upregulated ARA70 expression and accelerated lipid peroxidation in retinal tissues. We first confirmed that two ferroptosis inhibitors, deferiprone or ferrostatin-1 (Fer-1), suppressed ferritin degradation, restrained apoptosis and inflammation, and protected mouse retinas against IR stress. Next, primary mouse RGCs were treated with tBH to simulate IR environment in vitro. ARA70 expression was decreased at lower concentrations of tBH (5-20 μM), but increased at higher concentrations (40-80 μM). Interestingly, the expression of ferritin-related proteins (ferritin heavy chain, FTH; ferritin light chain, FTL) showed an opposite alteration. Knockdown of ARA70 protected RGCs from tBH-induced damage. It inhibited the delivery of ferritin to lysosomes for ferritinophagy and thus reducing cellular Fe2+ concentration. Besides, ARA70 knockdown suppressed autophagy and inflammation of tBH-treated RGCs. These findings provide novel insights into the pathogenesis of retinal IR, and may be helpful for treatment of retinal diseases.","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71416326","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

Homozygous Mutations in GDAP1 and MFN2 Genes Resulted in Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in Consanguineous Pakistani Families. GDAP1和MFN2基因的纯合突变导致巴基斯坦血亲家庭中Charcot-Marie Tooth病的常染色体隐性形式。

DNA and cell biology Pub Date : 2023-11-01 Epub Date: 2023-10-05 DOI: 10.1089/dna.2023.0169

Muhammad Asif, Chien-Chun Chiou, Malik Fiaz Hussain, Manzoor Hussain, Zureesha Sajid, Muhammad Gulsher, Afifa Raheem, Adil Khan, Nasreen Nasreen, Andrzej Kloczkowski, Mubashir Hassan, Furhan Iqbal, Chien-Chin Chen

{"title":"Homozygous Mutations in GDAP1 and MFN2 Genes Resulted in Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in Consanguineous Pakistani Families.","authors":"Muhammad Asif, Chien-Chun Chiou, Malik Fiaz Hussain, Manzoor Hussain, Zureesha Sajid, Muhammad Gulsher, Afifa Raheem, Adil Khan, Nasreen Nasreen, Andrzej Kloczkowski, Mubashir Hassan, Furhan Iqbal, Chien-Chin Chen","doi":"10.1089/dna.2023.0169","DOIUrl":"10.1089/dna.2023.0169","url":null,"abstract":"Charcot-Marie-Tooth disease (CMT) is a heritable neurodegenerative disease of peripheral nervous system diseases in which more than 100 genes and their mutations are associated. Two consanguineous families Dera Ghazi Khan (PAK-CMT1-DG KHAN) and Layyah (PAK-CMT2-LAYYAH) with multiple CMT-affected subjects were enrolled from Punjab province in Pakistan. Basic epidemiological data were collected for the subjects. Nerve conduction study (NCS) and electromyography (EMG) were performed for the patients. Whole-exome sequencing (WES) followed by Sanger sequencing was applied to report the genetic basic of CMT. The NCS findings revealed that sensory and motor nerve conduction velocities for both families were <38 m/s. EMG presented denervation, neuropathic motor unit potential, and reduced interference pattern of peripheral nerves. WES identified that a novel nonsense mutation (c. 226 G>T) in GADP1 gene and a previously known missense mutation in MFN2 gene (c. 334 G>A) cause CMT4A (Charcot-Marie-Tooth disease type 4A) in the PAK-CMT1-DG KHAN family and CMT2A (Charcot-Marie-Tooth disease type 2A) in the PAK-CMT2-LAYYAH family, respectively. Mutations followed Mendelian pattern with autosomal recessive mode of inheritance. Multiple sequence alignment by Clustal Omega indicated that mutation-containing domain in both genes is highly conserved, and in situ analysis revealed that both mutations are likely to be pathogenic. We reported that a novel nonsense mutation and a previously known missense mutation in GAPD1 gene and MFN2 gene, respectively, cause CMT in consanguineous Pakistani families.","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11262584/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41171525","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Correction to: Astragaloside IV Inhibited Podocyte Pyroptosis in Diabetic Kidney Disease by Regulating SIRT6/HIF-1α Axis, by Zhang et al. DNA Cell Biol. 2023;42(10): 594-607; doi: 10.1089/dna.2023.0102. 更正：黄芪甲苷IV通过调节SIRT6/HIF-1α轴抑制糖尿病肾病足细胞Pyroposis，Zhang et al.DNA Cell Biol.2023；42（10）：594-607；doi:10.1089/dna.2023.0102。

DNA and cell biology Pub Date : 2023-11-01 Epub Date: 2023-10-30 DOI: 10.1089/dna.2023.0102.correx

引用次数: 0

The Molecular Mechanisms Involved in Axonal Degeneration and Retrograde Retinal Ganglion Cell Death. 轴索变性和退行性视网膜神经节细胞死亡的分子机制。

DNA and cell biology Pub Date : 2023-11-01 Epub Date: 2023-10-11 DOI: 10.1089/dna.2023.0180

Zhaoyang Zuo, Ziyuan Zhang, Siming Zhang, Bin Fan, Guangyu Li

引用次数: 0

Astragaloside IV Inhibited Podocyte Pyroptosis in Diabetic Kidney Disease by Regulating SIRT6/HIF-1α Axis. 黄芪甲苷IV通过调节SIRT6/HIF-1α轴抑制糖尿病肾病足细胞Pyroposis。

DNA and cell biology Pub Date : 2023-10-01 Epub Date: 2023-09-25 DOI: 10.1089/dna.2023.0102

Mingyu Zhang, Wenyuan Liu, Yuxiang Liu, Ziyuan Zhang, Yaling Hu, Dalin Sun, Sufen Li, Jingai Fang

{"title":"Astragaloside IV Inhibited Podocyte Pyroptosis in Diabetic Kidney Disease by Regulating SIRT6/HIF-1α Axis.","authors":"Mingyu Zhang, Wenyuan Liu, Yuxiang Liu, Ziyuan Zhang, Yaling Hu, Dalin Sun, Sufen Li, Jingai Fang","doi":"10.1089/dna.2023.0102","DOIUrl":"10.1089/dna.2023.0102","url":null,"abstract":"To investigate the effect of astragaloside IV (AS) on podocytes pyroptosis in diabetic kidney disease (DKD). Forty male Sprague-Dawley rats were randomly divided into normal group (n = 10) and model group (n = 30). Rats in model group were intraperitoneally injected streptozotocin (60 mg/kg) for 3 days to induce DKD. Then rats were divided into DKD group, AS group, and UBCS group. The AS group was given 40 mg/kg/d of AS by gavage, and UBCS group was given 50 mg/kg/d of UBCS039 by gavage, and normal group and DKD group were given the same amount saline for 8 weeks, once a day. Hematoxylin-eosin and masson staining were used to observe pathology of kidney. Rat podocytes were divided into normal group, mannitol hypertonic group, high-glucose group, UBCS group, OSS group, and AS group. Western blotting, quantitative real-time polymerase chain reaction, immunofluorescence, and flow cytometry were used to analyze pyroptosis-related markers and reactive oxygen species (ROS) levels. Results showed that AS inhibited ROS and alleviated podocytes pyroptosis in rats by increasing expression of sirtuin 6 (SIRT6) and decreasing expression of hypoxia inducible factor 1 subunit alpha (HIF-1α). UBCS039 and AS enhanced SIRT6 level, decreased HIF-1α level, and finally improved pyroptosis of podocytes in vitro, whereas OSS-128167 showed the opposite effect for podocytes pyroptosis. AS improved podocytes pyroptosis in DKD by regulating SIRT6/HIF-1α pathway, thereby alleviating injury of DKD.","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41165685","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

A Message from the Editor-in-Chief. 总编辑寄语。

DNA and cell biology Pub Date : 2023-10-01 Epub Date: 2023-10-05 DOI: 10.1089/dna.2023.29024.csr

引用次数: 0

Identification of A Novel Variant of Filamin A Destroying the Attraction Between Benzene Rings and Sulfhydryl in Developmental Dysplasia of the Hip. 一种破坏髋关节发育不良苯环和巯基之间吸引力的Filamin A新变体的鉴定。

DNA and cell biology Pub Date : 2023-10-01 DOI: 10.1089/dna.2023.0159

Yi-Lei Lu, Qin Wang, Min Wang, Si-Hua Chang, Ji-Qiang He, Rong Xiang, Ju-Yu Tang, Jie-Yuan Jin

{"title":"Identification of A Novel Variant of Filamin A Destroying the Attraction Between Benzene Rings and Sulfhydryl in Developmental Dysplasia of the Hip.","authors":"Yi-Lei Lu, Qin Wang, Min Wang, Si-Hua Chang, Ji-Qiang He, Rong Xiang, Ju-Yu Tang, Jie-Yuan Jin","doi":"10.1089/dna.2023.0159","DOIUrl":"10.1089/dna.2023.0159","url":null,"abstract":"Developmental dysplasia of the hip (DDH), characterized by acetabular deformity that manifests from loose ligaments to complete dislocation of the hip, can cause notable pain and dysfunction and lead to hip dislocation, secondary fractures, scoliosis, and osteoarthritis of hip. Variants in FLNA may produce a spectrum of malformations in multiple organs, especially the skeleton. This study aimed to identify the genetic etiologies of DDH patients and provide genetic testing information for further diagnosis and treatment of DDH. We recruited a Chinese woman with DDH and her family members. Whole-exome sequencing was used to identify the patient's genetic etiologies. Protein models were used to analyze the pathogenic mechanism of the identified variants. A novel variant (c.3493T>G, p.C1165G) of FLNA was detected. The structural models of the mutant FLNA protein indicated that the variant would lose its sulfhydryl side chain and destroy the attraction between benzene rings and sulfhydryl. We reported a novel variant (c.3493T>G, p.C1165G) of FLNA in a Chinese woman with DDH. Our research outcome enriches the gene pool for hip dysplasia and emphasizes the pathogenicity of sulfhydryl side chain disruption in FLNA.","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41242566","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

Identifying Hepatocellular Carcinoma Driver Genes by Integrative Pathway Crosstalk and Protein Interaction Network. 利用整合通路串扰和蛋白质相互作用网络鉴定肝癌驱动基因。

DNA and cell biology Pub Date : 2019-10-01 Epub Date: 2019-08-29 DOI: 10.1089/dna.2019.4869

Wenbiao Chen, Jingjing Jiang, Peizhong Peter Wang, Lan Gong, Jianing Chen, Weibo Du, Kefan Bi, Hongyan Diao

{"title":"Identifying Hepatocellular Carcinoma Driver Genes by Integrative Pathway Crosstalk and Protein Interaction Network.","authors":"Wenbiao Chen, Jingjing Jiang, Peizhong Peter Wang, Lan Gong, Jianing Chen, Weibo Du, Kefan Bi, Hongyan Diao","doi":"10.1089/dna.2019.4869","DOIUrl":"https://doi.org/10.1089/dna.2019.4869","url":null,"abstract":"In this study, we mined out hepatocellular carcinoma (HCC) driver genes from MEDLINE literatures by bioinformatics methods of pathway crosstalk and protein interaction network. Furthermore, the relationship between driver genes and their clinicopathological characteristics, as well as classification effectiveness was verified in the public databases. We identified 560 human genes reported to be associated with HCC in 1074 published articles. Functional analysis revealed that biological processes and biochemical pathways relating to tumor pathogenesis, cancer disease, tumor cell molecule, and hepatic disease were enriched in these genes. Pathway crosstalk analysis indicated that significant pathways could be divided into three modules: cancer disease, virus infection, and tumor signaling pathway. The HCC-related protein-protein interaction network comprised 10,212 nodes, and 56,400 edges were mined out to identify 18 modules corresponding to 14 driver genes. We verified that these 14 driver genes have high classification effectiveness to distinguish cancer samples from normal samples and the classification effectiveness was better than that of randomly selected genes. Present study provided pathway crosstalk and protein interaction network for understanding potential tumorigenesis genes underlying HCC. The 14 driver genes identified from this study are of great translational value in HCC diagnosis and treatment, as well as in clinical study on the pathogenesis of HCC.","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1089/dna.2019.4869","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41223907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 9