文献类型： 外文期刊
作者： Gao, Jun 1 ; Collyer, John 3 ; Wang, Maochun 4 ; Sun, Fengping 2 ; Xu, Fuyi 1 ;
作者机构： 1.Univ Tennessee, Ctr Hlth Sci, Dept Genet Genom & Informat, Memphis, TN 38163 USA
2.Shanghai Acad Agr Sci, Inst Anim Husb & Vet Sci, Shanghai 201106, Peoples R China
3.Univ Tennessee, Ctr Hlth Sci, Dept Pediat, Memphis, TN 38163 USA
4.Donghua Univ, Coll Chem Chem Engn & Biotechnol, Shanghai 201620, Peoples R China
关键词： hypertrophic cardiomyopathy; RNA-seq; pathogenic variants; differential gene expression; gene network
期刊名称：INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES （ 影响因子：5.923； 五年影响因子：6.132 ）
ISSN：
年卷期： 2020 年 21 卷 9 期
页码：
收录情况： SCI
摘要： Hypertrophic cardiomyopathy (HCM) is an inherited disorder of the myocardium, and pathogenic mutations in the sarcomere genes myosin heavy chain 7 (MYH7) and myosin-binding protein C (MYBPC3) explain 60%-70% of observed clinical cases. The heterogeneity of phenotypes observed in HCM patients, however, suggests that novel causative genes or genetic modifiers likely exist. Here, we systemically evaluated RNA-seq data from 28 HCM patients and 9 healthy controls with pathogenic variant identification, differential expression analysis, and gene co-expression and protein-protein interaction network analyses. We identified 43 potential pathogenic variants in 19 genes in 24 HCM patients. Genes with more than one variant included the following: MYBPC3, TTN, MYH7, PSEN2, and LDB3. A total of 2538 protein-coding genes, six microRNAs (miRNAs), and 1617 long noncoding RNAs (lncRNAs) were identified differentially expressed between the groups, including several well-characterized cardiomyopathy-related genes (ANKRD1, FHL2, TGFB3, miR-30d, and miR-154). Gene enrichment analysis revealed that those genes are significantly involved in heart development and physiology. Furthermore, we highlighted four subnetworks: mtDNA-subnetwork, DSP-subnetwork, MYH7-subnetwork, and MYBPC3-subnetwork, which could play significant roles in the progression of HCM. Our findings further illustrate that HCM is a complex disease, which results from mutations in multiple protein-coding genes, modulation by non-coding RNAs and perturbations in gene networks.
- 相关文献
作者其他论文 更多>>
-
Detection and Analysis of Antidiarrheal Genes and Immune Factors in Various Shanghai Pig Breeds
作者：Zhou, Jinyong;Liu, Fuqin;He, Mengqian;Gao, Jun;Wu, Caifeng;Dai, Jianjun;Sun, Lingwei;Zhou, Jinyong;Liu, Fuqin;He, Mengqian;Gao, Jun;Wu, Caifeng;Sun, Lingwei;Gan, Yeqing;Bian, Yi;Wei, Jinliang;Zhang, Weijian;Zhang, Wengang;Han, Xuejun;Dai, Jianjun
关键词：Shanghai white pig; Fengjing pig; Shawutou pig; Meishan pig; Pudong white pig; gene; immunity factors
-
Characterization and Comparative Analysis of Whole-Transcriptome Sequencing in High- and Low-Fecundity Chongming White Goat Ovaries during the Estrus Phase
作者：Lin, Yuexia;Sun, Lingwei;Dai, Jianjun;Lv, Yuhua;Liao, Rongrong;Shen, Xiaohui;Gao, Jun;Sun, Lingwei;Dai, Jianjun;Gao, Jun;Sun, Lingwei;Dai, Jianjun;Gao, Jun
关键词：goat; ovary; fecundity; non-coding RNAs; ceRNA
-
Transcriptomic and metabolomic dissection of skeletal muscle of crossbred Chongming white goats with different meat production performance
作者：Lin, Yuexia;Sun, Lingwei;Lv, Yuhua;Liao, Rongrong;Zhang, Shushan;Xu, Jiehuan;He, Mengqian;Wu, Caifeng;Zhang, Defu;Dai, Jianjun;Gao, Jun;Lin, Yuexia;Sun, Lingwei;Lv, Yuhua;Liao, Rongrong;Zhang, Keqing;Zhou, Jinyong;Zhang, Shushan;Xu, Jiehuan;He, Mengqian;Wu, Caifeng;Zhang, Defu;Dai, Jianjun;Gao, Jun;Sun, Lingwei;Zhang, Shushan;Xu, Jiehuan;He, Mengqian;Wu, Caifeng;Zhang, Defu;Dai, Jianjun;Gao, Jun;Shen, Xiaohui
关键词：RNA-seq; Differentially expressed gene; Liquid chromatography-mass spectrometry; Goat meat development
-
Dietary Supplementation with Rumen-Protected Arginine or N-Carbamylglutamate Enhances Fetal Liver Development in Nutrient-Restricted Pregnant Hu Ewes
作者：Lin, Yuexia;Sun, Lingwei;He, Mengqian;Xu, Jiehuan;Wu, Caifeng;Gao, Jun;Dai, Jianjun;Sun, Lingwei;He, Mengqian;Xu, Jiehuan;Wu, Caifeng;Gao, Jun;Dai, Jianjun
关键词：maternal undernutrition; rumen-protected arginine (RP-Arg); N-carbamylglutamate (NCG); fetal liver function; antioxidant; apoptosis
-
Characterization of Meat Metabolites and Lipids in Shanghai Local Pig Breeds Revealed by LC-MS-Based Method
作者：Gao, Jun;Sun, Lingwei;Tu, Weilong;Zhang, Shushan;Xu, Jiehuan;He, Mengqian;Zhang, Defu;Dai, Jianjun;Wu, Caifeng;Gao, Jun;Sun, Lingwei;Tu, Weilong;Zhang, Shushan;Zhang, Defu;Dai, Jianjun;Wu, Caifeng;Gao, Jun;Sun, Lingwei;Cao, Mengqian;Zhang, Shushan;Xu, Jiehuan;He, Mengqian;Zhang, Defu;Dai, Jianjun;Wu, Caifeng;Gao, Jun;Sun, Lingwei;Tu, Weilong;Zhang, Shushan;Xu, Jiehuan;He, Mengqian;Zhang, Defu;Dai, Jianjun;Cao, Mengqian;Wu, Xiao
关键词：metabolomics; lipidomics; liquid chromatography-mass spectrometry; longissimus dorsi muscle; gluteus muscle
-
Evaluation of Dry Ice for Short-Term Storage and Transportation of Frozen Boar Semen
作者：He, Mengqian;Sun, Lingwei;Xu, Jiehuan;Wu, Caifeng;Zhang, Shushan;Gao, Jun;Zhang, Defu;Dai, Jianjun;He, Mengqian;Sun, Lingwei;Xu, Jiehuan;Wu, Caifeng;Zhang, Shushan;Gao, Jun;Zhang, Defu;Dai, Jianjun;He, Mengqian;Sun, Lingwei;Xu, Jiehuan;Wu, Caifeng;Zhang, Shushan;Zhang, Defu;Han, Xuejun;Dai, Jianjun;Gan, Yeqing;Bian, Yi;Wei, Jinliang;Zhang, Weijian;Zhang, Wengang
关键词：semen cryopreservation; dry ice; semen transportation; boar
-
Genomic Dissection through Whole-Genome Resequencing of Five Local Pig Breeds from Shanghai, China
作者：Gao, Jun;Sun, Lingwei;Zhang, Shushan;Xu, Jiehuan;He, Mengqian;Zhang, Defu;Wu, Caifeng;Dai, Jianjun;Gao, Jun;Sun, Lingwei;Zhang, Shushan;Xu, Jiehuan;He, Mengqian;Zhang, Keqing;Zhou, Jinyong;Zhang, Defu;Wu, Caifeng;Dai, Jianjun;Gao, Jun;Sun, Lingwei;Zhang, Shushan;Xu, Jiehuan;He, Mengqian;Zhang, Keqing;Zhou, Jinyong;Zhang, Defu;Wu, Caifeng;Dai, Jianjun;Pan, Hongmei
关键词：indigenous Shanghai pig breed; commercial pig breed; whole-genome resequencing; selective sweep analysis; genomic characteristics
