Transgelin: a new gene involved in LDL endocytosis identified by a genome-wide CRISPR-Cas9 screen
A significant proportion of patients with elevated LDL and a clinical presentation of familial hypercholesterolemia do not carry known genetic mutations associated with hypercholesterolemia, such as defects in the LDL receptor. To identify new genes involved in the cellular uptake of LDL, we develop...
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| Vydáno v: | Journal of lipid research Ročník 63; číslo 1; s. 100160 |
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| Hlavní autoři: | , , , , , , , , , , , , , , |
| Médium: | Journal Article |
| Jazyk: | angličtina |
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United States
Elsevier Inc
01.01.2022
American Society for Biochemistry and Molecular Biology Elsevier |
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| ISSN: | 0022-2275, 1539-7262, 1539-7262 |
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| Abstract | A significant proportion of patients with elevated LDL and a clinical presentation of familial hypercholesterolemia do not carry known genetic mutations associated with hypercholesterolemia, such as defects in the LDL receptor. To identify new genes involved in the cellular uptake of LDL, we developed a novel whole-genome clustered regularly interspaced short palindromic repeat-Cas9 KO screen in HepG2 cells. We identified transgelin (TAGLN), an actin-binding protein, as a potentially new gene involved in LDL endocytosis. In silico validation demonstrated that genetically predicted differences in expression of TAGLN in human populations were significantly associated with elevated plasma lipids (triglycerides, total cholesterol, and LDL-C) in the Global Lipids Genetics Consortium and lipid-related phenotypes in the UK Biobank. In biochemical studies, TAGLN-KO HepG2 cells showed a reduction in cellular LDL uptake, as measured by flow cytometry. In confocal microscopy imaging, TAGLN-KO cells had disrupted actin filaments as well as an accumulation of LDL receptor on their surface because of decreased receptor internalization. Furthermore, TAGLN-KO cells exhibited a reduction in total and free cholesterol content, activation of SREBP2, and a compensatory increase in cholesterol biosynthesis. TAGLN deficiency also disrupted the uptake of VLDL and transferrin, other known cargoes for receptors that depend upon clathrin-mediated endocytosis. Our data suggest that TAGLN is a novel factor involved in the actin-dependent phase of clathrin-mediated endocytosis of LDL. The identification of novel genes involved in the endocytic uptake of LDL may improve the diagnosis of hypercholesterolemia and provide future therapeutic targets for the prevention of cardiovascular disease. |
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| AbstractList | A significant proportion of patients with elevated LDL and a clinical presentation of familial hypercholesterolemia do not carry known genetic mutations associated with hypercholesterolemia, such as defects in the LDL receptor. To identify new genes involved in the cellular uptake of LDL, we developed a novel whole-genome clustered regularly interspaced short palindromic repeat-Cas9 KO screen in HepG2 cells. We identified transgelin (TAGLN), an actin-binding protein, as a potentially new gene involved in LDL endocytosis. In silico validation demonstrated that genetically predicted differences in expression of TAGLN in human populations were significantly associated with elevated plasma lipids (triglycerides, total cholesterol, and LDL-C) in the Global Lipids Genetics Consortium and lipid-related phenotypes in the UK Biobank. In biochemical studies, TAGLN-KO HepG2 cells showed a reduction in cellular LDL uptake, as measured by flow cytometry. In confocal microscopy imaging, TAGLN-KO cells had disrupted actin filaments as well as an accumulation of LDL receptor on their surface because of decreased receptor internalization. Furthermore, TAGLN-KO cells exhibited a reduction in total and free cholesterol content, activation of SREBP2, and a compensatory increase in cholesterol biosynthesis. TAGLN deficiency also disrupted the uptake of VLDL and transferrin, other known cargoes for receptors that depend upon clathrin-mediated endocytosis. Our data suggest that TAGLN is a novel factor involved in the actin-dependent phase of clathrin-mediated endocytosis of LDL. The identification of novel genes involved in the endocytic uptake of LDL may improve the diagnosis of hypercholesterolemia and provide future therapeutic targets for the prevention of cardiovascular disease. A significant proportion of patients with elevated LDL and a clinical presentation of familial hypercholesterolemia do not carry known genetic mutations associated with hypercholesterolemia, such as defects in the LDL receptor. To identify new genes involved in the cellular uptake of LDL, we developed a novel whole-genome clustered regularly interspaced short palindromic repeat-Cas9 KO screen in HepG2 cells. We identified transgelin (TAGLN), an actin-binding protein, as a potentially new gene involved in LDL endocytosis. In silico validation demonstrated that genetically predicted differences in expression of TAGLN in human populations were significantly associated with elevated plasma lipids (triglycerides, total cholesterol, and LDL-C) in the Global Lipids Genetics Consortium and lipid-related phenotypes in the UK Biobank. In biochemical studies, TAGLN-KO HepG2 cells showed a reduction in cellular LDL uptake, as measured by flow cytometry. In confocal microscopy imaging, TAGLN-KO cells had disrupted actin filaments as well as an accumulation of LDL receptor on their surface because of decreased receptor internalization. Furthermore, TAGLN-KO cells exhibited a reduction in total and free cholesterol content, activation of SREBP2, and a compensatory increase in cholesterol biosynthesis. TAGLN deficiency also disrupted the uptake of VLDL and transferrin, other known cargoes for receptors that depend upon clathrin-mediated endocytosis. Our data suggest that TAGLN is a novel factor involved in the actin-dependent phase of clathrin-mediated endocytosis of LDL. The identification of novel genes involved in the endocytic uptake of LDL may improve the diagnosis of hypercholesterolemia and provide future therapeutic targets for the prevention of cardiovascular disease.A significant proportion of patients with elevated LDL and a clinical presentation of familial hypercholesterolemia do not carry known genetic mutations associated with hypercholesterolemia, such as defects in the LDL receptor. To identify new genes involved in the cellular uptake of LDL, we developed a novel whole-genome clustered regularly interspaced short palindromic repeat-Cas9 KO screen in HepG2 cells. We identified transgelin (TAGLN), an actin-binding protein, as a potentially new gene involved in LDL endocytosis. In silico validation demonstrated that genetically predicted differences in expression of TAGLN in human populations were significantly associated with elevated plasma lipids (triglycerides, total cholesterol, and LDL-C) in the Global Lipids Genetics Consortium and lipid-related phenotypes in the UK Biobank. In biochemical studies, TAGLN-KO HepG2 cells showed a reduction in cellular LDL uptake, as measured by flow cytometry. In confocal microscopy imaging, TAGLN-KO cells had disrupted actin filaments as well as an accumulation of LDL receptor on their surface because of decreased receptor internalization. Furthermore, TAGLN-KO cells exhibited a reduction in total and free cholesterol content, activation of SREBP2, and a compensatory increase in cholesterol biosynthesis. TAGLN deficiency also disrupted the uptake of VLDL and transferrin, other known cargoes for receptors that depend upon clathrin-mediated endocytosis. Our data suggest that TAGLN is a novel factor involved in the actin-dependent phase of clathrin-mediated endocytosis of LDL. The identification of novel genes involved in the endocytic uptake of LDL may improve the diagnosis of hypercholesterolemia and provide future therapeutic targets for the prevention of cardiovascular disease. |
| ArticleNumber | 100160 |
| Author | Freeman, Lita A. Mendelson, Michael M. Tang, Jingrong Remaley, Alan T. Dikilitas, Ozan Li, Yuesheng Combs, Christian A. Vaisman, Boris Voros, Szilard Lucero, Diego Aligabi, Zahra Bansal, Aruna T. Neufeld, Edward B. Islam, Promotto Kullo, Iftikhar J. |
| Author_xml | – sequence: 1 givenname: Diego surname: Lucero fullname: Lucero, Diego email: diego.lucero3@nih.gov organization: Lipoprotein Metabolism Laboratory, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA – sequence: 2 givenname: Ozan orcidid: 0000-0002-9906-8608 surname: Dikilitas fullname: Dikilitas, Ozan organization: Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA – sequence: 3 givenname: Michael M. orcidid: 0000-0001-7590-3958 surname: Mendelson fullname: Mendelson, Michael M. organization: Department of Cardiology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA – sequence: 4 givenname: Zahra orcidid: 0000-0002-7155-2609 surname: Aligabi fullname: Aligabi, Zahra organization: Lipoprotein Metabolism Laboratory, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA – sequence: 5 givenname: Promotto surname: Islam fullname: Islam, Promotto organization: Lipoprotein Metabolism Laboratory, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA – sequence: 6 givenname: Edward B. surname: Neufeld fullname: Neufeld, Edward B. organization: Lipoprotein Metabolism Laboratory, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA – sequence: 7 givenname: Aruna T. orcidid: 0000-0002-7262-6534 surname: Bansal fullname: Bansal, Aruna T. organization: Acclarogen Ltd, St John’s Innovation Centre, Cambridge, United Kingdom – sequence: 8 givenname: Lita A. surname: Freeman fullname: Freeman, Lita A. organization: Lipoprotein Metabolism Laboratory, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA – sequence: 9 givenname: Boris surname: Vaisman fullname: Vaisman, Boris organization: Lipoprotein Metabolism Laboratory, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA – sequence: 10 givenname: Jingrong surname: Tang fullname: Tang, Jingrong organization: Lipoprotein Metabolism Laboratory, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA – sequence: 11 givenname: Christian A. surname: Combs fullname: Combs, Christian A. organization: NHLBI Light Microscopy Facility, National Institutes of Health, Bethesda, MD, USA – sequence: 12 givenname: Yuesheng surname: Li fullname: Li, Yuesheng organization: DNA Sequencing and Genomics Core, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA – sequence: 13 givenname: Szilard surname: Voros fullname: Voros, Szilard organization: Global Genomics Group, LLC, Midlothian, VA, USA – sequence: 14 givenname: Iftikhar J. surname: Kullo fullname: Kullo, Iftikhar J. organization: Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA – sequence: 15 givenname: Alan T. surname: Remaley fullname: Remaley, Alan T. organization: Lipoprotein Metabolism Laboratory, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/34902367$$D View this record in MEDLINE/PubMed |
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| Keywords | FH TAGLN GWAS ASCVD mSREBP2 LFC HepG2 cells FACS pSREBP2 UTR transgelin LDL sTfR endocytosis CME qPCR SNV cellular LDL uptake LDLR CRISPR GTEx whole-genome CRISPR-Cas9 screen CAD PCSK LDL receptor actin-binding protein TC UKBB TG NHLBI sgRNA |
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| Snippet | A significant proportion of patients with elevated LDL and a clinical presentation of familial hypercholesterolemia do not carry known genetic mutations... |
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| SubjectTerms | actin-binding protein cellular LDL uptake CRISPR-Cas Systems - genetics Endocytosis Genome-Wide Association Study Hep G2 Cells HepG2 cells Humans LDL LDL receptor Lipoproteins, LDL - metabolism Microfilament Proteins - genetics Microfilament Proteins - metabolism Muscle Proteins - genetics Muscle Proteins - metabolism Receptors, LDL - genetics Receptors, LDL - metabolism Sterol Regulatory Element Binding Protein 2 - genetics Sterol Regulatory Element Binding Protein 2 - metabolism transgelin whole-genome CRISPR-Cas9 screen |
| Title | Transgelin: a new gene involved in LDL endocytosis identified by a genome-wide CRISPR-Cas9 screen |
| URI | https://dx.doi.org/10.1016/j.jlr.2021.100160 https://www.ncbi.nlm.nih.gov/pubmed/34902367 https://www.proquest.com/docview/2610075082 https://pubmed.ncbi.nlm.nih.gov/PMC8953622 https://doaj.org/article/36e2a63f6e5b47bb9ee2ec4ae8fc5638 |
| Volume | 63 |
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