Genetic Deletion of Emp2 Does Not Cause Proteinuric Kidney Disease in Mice
Identifieur interne : 000A18 ( Ncbi/Merge ); précédent : 000A17; suivant : 000A19Genetic Deletion of Emp2 Does Not Cause Proteinuric Kidney Disease in Mice
Auteurs : Michael D. Donnan ; Rizaldy P. Scott ; Tuncer Onay ; Antoine Tarjus ; Ummiye Venus Onay ; Susan E. QuagginSource :
- Frontiers in Medicine [ 2296-858X ] ; 2019.
Abstract
Nephrotic syndrome is one of the most common glomerular diseases in children and can be classified on the basis of steroid responsiveness. While multiple genetic causes have been discovered for steroid resistant nephrotic syndrome, the genetics of steroid sensitive nephrotic syndrome remains elusive. Mutations in Epithelial Membrane Protein 2 (
Url:
DOI: 10.3389/fmed.2019.00189
PubMed: 31508419
PubMed Central: 6718710
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genetic Deletion of <italic>Emp2</italic> Does Not Cause Proteinuric Kidney Disease in Mice</title><author><name sortKey="Donnan, Michael D" sort="Donnan, Michael D" uniqKey="Donnan M" first="Michael D." last="Donnan">Michael D. Donnan</name></author><author><name sortKey="Scott, Rizaldy P" sort="Scott, Rizaldy P" uniqKey="Scott R" first="Rizaldy P." last="Scott">Rizaldy P. Scott</name></author><author><name sortKey="Onay, Tuncer" sort="Onay, Tuncer" uniqKey="Onay T" first="Tuncer" last="Onay">Tuncer Onay</name></author><author><name sortKey="Tarjus, Antoine" sort="Tarjus, Antoine" uniqKey="Tarjus A" first="Antoine" last="Tarjus">Antoine Tarjus</name></author><author><name sortKey="Onay, Ummiye Venus" sort="Onay, Ummiye Venus" uniqKey="Onay U" first="Ummiye Venus" last="Onay">Ummiye Venus Onay</name></author><author><name sortKey="Quaggin, Susan E" sort="Quaggin, Susan E" uniqKey="Quaggin S" first="Susan E." last="Quaggin">Susan E. Quaggin</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">31508419</idno><idno type="pmc">6718710</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6718710</idno><idno type="RBID">PMC:6718710</idno><idno type="doi">10.3389/fmed.2019.00189</idno><date when="2019">2019</date><idno type="wicri:Area/Pmc/Corpus">000547</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000547</idno><idno type="wicri:Area/Pmc/Curation">000547</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000547</idno><idno type="wicri:Area/Pmc/Checkpoint">000741</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000741</idno><idno type="wicri:Area/Ncbi/Merge">000A18</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Genetic Deletion of <italic>Emp2</italic> Does Not Cause Proteinuric Kidney Disease in Mice</title><author><name sortKey="Donnan, Michael D" sort="Donnan, Michael D" uniqKey="Donnan M" first="Michael D." last="Donnan">Michael D. Donnan</name></author><author><name sortKey="Scott, Rizaldy P" sort="Scott, Rizaldy P" uniqKey="Scott R" first="Rizaldy P." last="Scott">Rizaldy P. Scott</name></author><author><name sortKey="Onay, Tuncer" sort="Onay, Tuncer" uniqKey="Onay T" first="Tuncer" last="Onay">Tuncer Onay</name></author><author><name sortKey="Tarjus, Antoine" sort="Tarjus, Antoine" uniqKey="Tarjus A" first="Antoine" last="Tarjus">Antoine Tarjus</name></author><author><name sortKey="Onay, Ummiye Venus" sort="Onay, Ummiye Venus" uniqKey="Onay U" first="Ummiye Venus" last="Onay">Ummiye Venus Onay</name></author><author><name sortKey="Quaggin, Susan E" sort="Quaggin, Susan E" uniqKey="Quaggin S" first="Susan E." last="Quaggin">Susan E. Quaggin</name></author></analytic><series><title level="j">Frontiers in Medicine</title><idno type="eISSN">2296-858X</idno><imprint><date when="2019">2019</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Nephrotic syndrome is one of the most common glomerular diseases in children and can be classified on the basis of steroid responsiveness. While multiple genetic causes have been discovered for steroid resistant nephrotic syndrome, the genetics of steroid sensitive nephrotic syndrome remains elusive. Mutations in Epithelial Membrane Protein 2 (<italic>EMP2</italic>), a member of the GAS3/PMP22 tetraspan family of proteins, were recently implicated as putative monogenic cause of steroid sensitive nephrotic syndrome. We investigated this hypothesis by developing <italic>Emp2</italic> reporter and knockout mouse models. In <italic>lacZ</italic> reporter mice (engineered to drive expression of the enzyme β-galactosidase under the control of the endogenous murine <italic>Emp2</italic> promoter), <italic>Emp2</italic> promoter activity was not observed in podocytes but was particularly prominent in medium- and large-caliber arterial vessels in the kidney and other tissues where it localizes specifically in vascular smooth muscle cells (vSMCs) but not in the endothelium. Strong <italic>Emp2</italic> expression was also found in non-vascular smooth muscle cells found in other organs like the stomach, bladder, and uterus. Global and podocyte-specific <italic>Emp2</italic> knockout mice were viable and did not develop nephrotic syndrome showing no evidence of abnormal glomerular histology or ultrastructure. Altogether, our results do not support that loss of function of <italic>EMP2</italic> represent a monogenic cause of proteinuric kidney disease. However, the expression pattern of <italic>Emp2</italic> indicates that it may be relevant in smooth muscle function in various organs and tissues including the vasculature.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Orth, Sr" uniqKey="Orth S">SR Orth</name></author><author><name sortKey="Ritz, E" uniqKey="Ritz E">E Ritz</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Benoit, G" uniqKey="Benoit G">G Benoit</name></author><author><name sortKey="Machuca, E" uniqKey="Machuca E">E Machuca</name></author><author><name sortKey="Antignac, C" uniqKey="Antignac C">C Antignac</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Yu, Sm" uniqKey="Yu S">SM Yu</name></author><author><name sortKey="Nissaisorakarn, P" uniqKey="Nissaisorakarn P">P Nissaisorakarn</name></author><author><name sortKey="Husain, I" uniqKey="Husain I">I Husain</name></author><author><name sortKey="Jim, B" uniqKey="Jim B">B Jim</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lane, Bm" uniqKey="Lane B">BM Lane</name></author><author><name sortKey="Cason, R" uniqKey="Cason R">R Cason</name></author><author><name sortKey="Esezobor, Ci" uniqKey="Esezobor C">CI Esezobor</name></author><author><name sortKey="Gbadegesin, Ra" uniqKey="Gbadegesin R">RA Gbadegesin</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Xia, Y" uniqKey="Xia Y">Y Xia</name></author><author><name sortKey="Mao, J" uniqKey="Mao J">J Mao</name></author><author><name sortKey="Jin, X" uniqKey="Jin X">X Jin</name></author><author><name sortKey="Wang, W" uniqKey="Wang W">W Wang</name></author><author><name sortKey="Du, L" uniqKey="Du L">L Du</name></author><author><name sortKey="Liu, A" uniqKey="Liu A">A Liu</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Gbadegesin, Ra" uniqKey="Gbadegesin R">RA Gbadegesin</name></author><author><name sortKey="Adeyemo, A" uniqKey="Adeyemo A">A Adeyemo</name></author><author><name sortKey="Webb, Nj" uniqKey="Webb N">NJ Webb</name></author><author><name sortKey="Greenbaum, La" uniqKey="Greenbaum L">LA Greenbaum</name></author><author><name sortKey="Abeyagunawardena, A" uniqKey="Abeyagunawardena A">A Abeyagunawardena</name></author><author><name sortKey="Thalgahagoda, S" uniqKey="Thalgahagoda S">S Thalgahagoda</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Parker, L" uniqKey="Parker L">L Parker</name></author><author><name sortKey="Bahat, H" uniqKey="Bahat H">H Bahat</name></author><author><name sortKey="Appel, My" uniqKey="Appel M">MY Appel</name></author><author><name sortKey="Baum, Dv" uniqKey="Baum D">DV Baum</name></author><author><name sortKey="Forer, R" uniqKey="Forer R">R Forer</name></author><author><name sortKey="Pillar, N" uniqKey="Pillar N">N Pillar</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Fuchshuber, A" uniqKey="Fuchshuber A">A Fuchshuber</name></author><author><name sortKey="Gribouval, O" uniqKey="Gribouval O">O Gribouval</name></author><author><name sortKey="Ronner, V" uniqKey="Ronner V">V Ronner</name></author><author><name sortKey="Kroiss, S" uniqKey="Kroiss S">S Kroiss</name></author><author><name sortKey="Karle, S" uniqKey="Karle S">S Karle</name></author><author><name sortKey="Brandis, M" uniqKey="Brandis M">M Brandis</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Gee, Hy" uniqKey="Gee H">HY Gee</name></author><author><name sortKey="Ashraf, S" uniqKey="Ashraf S">S Ashraf</name></author><author><name sortKey="Wan, X" uniqKey="Wan X">X Wan</name></author><author><name sortKey="Vega Warner, V" uniqKey="Vega Warner V">V Vega-Warner</name></author><author><name sortKey="Esteve Rudd, J" uniqKey="Esteve Rudd J">J Esteve-Rudd</name></author><author><name sortKey="Lovric, S" uniqKey="Lovric S">S Lovric</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Chung, Lk" uniqKey="Chung L">LK Chung</name></author><author><name sortKey="Bhatt, Ns" uniqKey="Bhatt N">NS Bhatt</name></author><author><name sortKey="Lagman, C" uniqKey="Lagman C">C Lagman</name></author><author><name sortKey="Pelargos, Pe" uniqKey="Pelargos P">PE Pelargos</name></author><author><name sortKey="Qin, Y" uniqKey="Qin Y">Y Qin</name></author><author><name sortKey="Gordon, Lk" uniqKey="Gordon L">LK Gordon</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Berditchevski, F" uniqKey="Berditchevski F">F Berditchevski</name></author><author><name sortKey="Odintsova, E" uniqKey="Odintsova E">E Odintsova</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wadehra, M" uniqKey="Wadehra M">M Wadehra</name></author><author><name sortKey="Iyer, R" uniqKey="Iyer R">R Iyer</name></author><author><name sortKey="Goodglick, L" uniqKey="Goodglick L">L Goodglick</name></author><author><name sortKey="Braun, J" uniqKey="Braun J">J Braun</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Taylor, V" uniqKey="Taylor V">V Taylor</name></author><author><name sortKey="Suter, U" uniqKey="Suter U">U Suter</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ashki, N" uniqKey="Ashki N">N Ashki</name></author><author><name sortKey="Gordon, L" uniqKey="Gordon L">L Gordon</name></author><author><name sortKey="Wadehra, M" uniqKey="Wadehra M">M Wadehra</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Chen, Q" uniqKey="Chen Q">Q Chen</name></author><author><name sortKey="Yao, L" uniqKey="Yao L">L Yao</name></author><author><name sortKey="Burner, D" uniqKey="Burner D">D Burner</name></author><author><name sortKey="Minev, B" uniqKey="Minev B">B Minev</name></author><author><name sortKey="Lu, L" uniqKey="Lu L">L Lu</name></author><author><name sortKey="Wang, M" uniqKey="Wang M">M Wang</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wang, Cx" uniqKey="Wang C">CX Wang</name></author><author><name sortKey="Wadehra, M" uniqKey="Wadehra M">M Wadehra</name></author><author><name sortKey="Fisk, Bc" uniqKey="Fisk B">BC Fisk</name></author><author><name sortKey="Goodglick, L" uniqKey="Goodglick L">L Goodglick</name></author><author><name sortKey="Braun, J" uniqKey="Braun J">J Braun</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lee, Ej" uniqKey="Lee E">EJ Lee</name></author><author><name sortKey="Park, Mk" uniqKey="Park M">MK Park</name></author><author><name sortKey="Kim, Hj" uniqKey="Kim H">HJ Kim</name></author><author><name sortKey="Kim, Ej" uniqKey="Kim E">EJ Kim</name></author><author><name sortKey="Kang, Gj" uniqKey="Kang G">GJ Kang</name></author><author><name sortKey="Byun, Hj" uniqKey="Byun H">HJ Byun</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wadehra, M" uniqKey="Wadehra M">M Wadehra</name></author><author><name sortKey="Sulur, Gg" uniqKey="Sulur G">GG Sulur</name></author><author><name sortKey="Braun, J" uniqKey="Braun J">J Braun</name></author><author><name sortKey="Gordon, Lk" uniqKey="Gordon L">LK Gordon</name></author><author><name sortKey="Goodglick, L" uniqKey="Goodglick L">L Goodglick</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Fu, M" uniqKey="Fu M">M Fu</name></author><author><name sortKey="Rao, R" uniqKey="Rao R">R Rao</name></author><author><name sortKey="Sudhakar, D" uniqKey="Sudhakar D">D Sudhakar</name></author><author><name sortKey="Hogue, Cp" uniqKey="Hogue C">CP Hogue</name></author><author><name sortKey="Rutta, Z" uniqKey="Rutta Z">Z Rutta</name></author><author><name sortKey="Morales, S" uniqKey="Morales S">S Morales</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Forbes, A" uniqKey="Forbes A">A Forbes</name></author><author><name sortKey="Wadehra, M" uniqKey="Wadehra M">M Wadehra</name></author><author><name sortKey="Mareninov, S" uniqKey="Mareninov S">S Mareninov</name></author><author><name sortKey="Morales, S" uniqKey="Morales S">S Morales</name></author><author><name sortKey="Shimazaki, K" uniqKey="Shimazaki K">K Shimazaki</name></author><author><name sortKey="Gordon, Lk" uniqKey="Gordon L">LK Gordon</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Gordon, Lk" uniqKey="Gordon L">LK Gordon</name></author><author><name sortKey="Kiyohara, M" uniqKey="Kiyohara M">M Kiyohara</name></author><author><name sortKey="Fu, M" uniqKey="Fu M">M Fu</name></author><author><name sortKey="Braun, J" uniqKey="Braun J">J Braun</name></author><author><name sortKey="Dhawan, P" uniqKey="Dhawan P">P Dhawan</name></author><author><name sortKey="Chan, A" uniqKey="Chan A">A Chan</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Fu, M" uniqKey="Fu M">M Fu</name></author><author><name sortKey="Brewer, S" uniqKey="Brewer S">S Brewer</name></author><author><name sortKey="Olafsen, T" uniqKey="Olafsen T">T Olafsen</name></author><author><name sortKey="Wu, Am" uniqKey="Wu A">AM Wu</name></author><author><name sortKey="Gordon, Lk" uniqKey="Gordon L">LK Gordon</name></author><author><name sortKey="Said, J" uniqKey="Said J">J Said</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Qin, Y" uniqKey="Qin Y">Y Qin</name></author><author><name sortKey="Takahashi, M" uniqKey="Takahashi M">M Takahashi</name></author><author><name sortKey="Sheets, K" uniqKey="Sheets K">K Sheets</name></author><author><name sortKey="Soto, H" uniqKey="Soto H">H Soto</name></author><author><name sortKey="Tsui, J" uniqKey="Tsui J">J Tsui</name></author><author><name sortKey="Pelargos, P" uniqKey="Pelargos P">P Pelargos</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Qin, Y" uniqKey="Qin Y">Y Qin</name></author><author><name sortKey="Fu, M" uniqKey="Fu M">M Fu</name></author><author><name sortKey="Takahashi, M" uniqKey="Takahashi M">M Takahashi</name></author><author><name sortKey="Iwanami, A" uniqKey="Iwanami A">A Iwanami</name></author><author><name sortKey="Kuga, D" uniqKey="Kuga D">D Kuga</name></author><author><name sortKey="Rao, Rg" uniqKey="Rao R">RG Rao</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wadehra, M" uniqKey="Wadehra M">M Wadehra</name></author><author><name sortKey="Dayal, M" uniqKey="Dayal M">M Dayal</name></author><author><name sortKey="Mainigi, M" uniqKey="Mainigi M">M Mainigi</name></author><author><name sortKey="Ord, T" uniqKey="Ord T">T Ord</name></author><author><name sortKey="Iyer, R" uniqKey="Iyer R">R Iyer</name></author><author><name sortKey="Braun, J" uniqKey="Braun J">J Braun</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Williams, Cj" uniqKey="Williams C">CJ Williams</name></author><author><name sortKey="Chu, A" uniqKey="Chu A">A Chu</name></author><author><name sortKey="Jefferson, Wn" uniqKey="Jefferson W">WN Jefferson</name></author><author><name sortKey="Casero, D" uniqKey="Casero D">D Casero</name></author><author><name sortKey="Sudhakar, D" uniqKey="Sudhakar D">D Sudhakar</name></author><author><name sortKey="Khurana, N" uniqKey="Khurana N">N Khurana</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Shimazaki, K" uniqKey="Shimazaki K">K Shimazaki</name></author><author><name sortKey="Wadehra, M" uniqKey="Wadehra M">M Wadehra</name></author><author><name sortKey="Forbes, A" uniqKey="Forbes A">A Forbes</name></author><author><name sortKey="Chan, Am" uniqKey="Chan A">AM Chan</name></author><author><name sortKey="Goodglick, L" uniqKey="Goodglick L">L Goodglick</name></author><author><name sortKey="Kelly, Ka" uniqKey="Kelly K">KA Kelly</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wan, X" uniqKey="Wan X">X Wan</name></author><author><name sortKey="Chen, Z" uniqKey="Chen Z">Z Chen</name></author><author><name sortKey="Choi, Wi" uniqKey="Choi W">WI Choi</name></author><author><name sortKey="Gee, Hy" uniqKey="Gee H">HY Gee</name></author><author><name sortKey="Hildebrandt, F" uniqKey="Hildebrandt F">F Hildebrandt</name></author><author><name sortKey="Zhou, W" uniqKey="Zhou W">W Zhou</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ozlu, Sg" uniqKey="Ozlu S">SG Özlü</name></author><author><name sortKey="Demircin, G" uniqKey="Demircin G">G Demircin</name></author><author><name sortKey="Tokmeci, N" uniqKey="Tokmeci N">N Tökmeci</name></author><author><name sortKey="Caltik Yilmaz, A" uniqKey="Caltik Yilmaz A">A Çaltik Yilmaz</name></author><author><name sortKey="Aydog, O" uniqKey="Aydog O">Ö Aydog</name></author><author><name sortKey="Bulbul, M" uniqKey="Bulbul M">M Bülbül</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Dorval, G" uniqKey="Dorval G">G Dorval</name></author><author><name sortKey="Gribouval, O" uniqKey="Gribouval O">O Gribouval</name></author><author><name sortKey="Martinez Barquero, V" uniqKey="Martinez Barquero V">V Martinez-Barquero</name></author><author><name sortKey="Machuca, E" uniqKey="Machuca E">E Machuca</name></author><author><name sortKey="Tete, Mj" uniqKey="Tete M">MJ Tête</name></author><author><name sortKey="Baudouin, V" uniqKey="Baudouin V">V Baudouin</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Groopman, E" uniqKey="Groopman E">E Groopman</name></author><author><name sortKey="Goldstein, D" uniqKey="Goldstein D">D Goldstein</name></author><author><name sortKey="Gharavi, A" uniqKey="Gharavi A">A Gharavi</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wang, M" uniqKey="Wang M">M Wang</name></author><author><name sortKey="Chun, J" uniqKey="Chun J">J Chun</name></author><author><name sortKey="Genovese, G" uniqKey="Genovese G">G Genovese</name></author><author><name sortKey="Knob, Au" uniqKey="Knob A">AU Knob</name></author><author><name sortKey="Benjamin, A" uniqKey="Benjamin A">A Benjamin</name></author><author><name sortKey="Wilkins, Ms" uniqKey="Wilkins M">MS Wilkins</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Becker, Gj" uniqKey="Becker G">GJ Becker</name></author><author><name sortKey="Hewitson, Td" uniqKey="Hewitson T">TD Hewitson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wu, H" uniqKey="Wu H">H Wu</name></author><author><name sortKey="Kirita, Y" uniqKey="Kirita Y">Y Kirita</name></author><author><name sortKey="Donnelly, El" uniqKey="Donnelly E">EL Donnelly</name></author><author><name sortKey="Humphreys, Bd" uniqKey="Humphreys B">BD Humphreys</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Sun, Mm" uniqKey="Sun M">MM Sun</name></author><author><name sortKey="Chan, Am" uniqKey="Chan A">AM Chan</name></author><author><name sortKey="Law, Sm" uniqKey="Law S">SM Law</name></author><author><name sortKey="Duarte, S" uniqKey="Duarte S">S Duarte</name></author><author><name sortKey="Diaz Aguilar, D" uniqKey="Diaz Aguilar D">D Diaz-Aguilar</name></author><author><name sortKey="Wadehra, M" uniqKey="Wadehra M">M Wadehra</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Fu, M" uniqKey="Fu M">M Fu</name></author><author><name sortKey="Maresh, El" uniqKey="Maresh E">EL Maresh</name></author><author><name sortKey="Helguera, Gf" uniqKey="Helguera G">GF Helguera</name></author><author><name sortKey="Kiyohara, M" uniqKey="Kiyohara M">M Kiyohara</name></author><author><name sortKey="Qin, Y" uniqKey="Qin Y">Y Qin</name></author><author><name sortKey="Ashki, N" uniqKey="Ashki N">N Ashki</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Telander, Dg" uniqKey="Telander D">DG Telander</name></author><author><name sortKey="Yu, Ak" uniqKey="Yu A">AK Yu</name></author><author><name sortKey="Forward, Ki" uniqKey="Forward K">KI Forward</name></author><author><name sortKey="Morales, Sa" uniqKey="Morales S">SA Morales</name></author><author><name sortKey="Morse, Ls" uniqKey="Morse L">LS Morse</name></author><author><name sortKey="Park, Ss" uniqKey="Park S">SS Park</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Torella, D" uniqKey="Torella D">D Torella</name></author><author><name sortKey="Iaconetti, C" uniqKey="Iaconetti C">C Iaconetti</name></author><author><name sortKey="Tarallo, R" uniqKey="Tarallo R">R Tarallo</name></author><author><name sortKey="Marino, F" uniqKey="Marino F">F Marino</name></author><author><name sortKey="Giurato, G" uniqKey="Giurato G">G Giurato</name></author><author><name sortKey="Veneziano, C" uniqKey="Veneziano C">C Veneziano</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Chen, L" uniqKey="Chen L">L Chen</name></author><author><name sortKey="Lee, Jw" uniqKey="Lee J">JW Lee</name></author><author><name sortKey="Chou, Cl" uniqKey="Chou C">CL Chou</name></author><author><name sortKey="Nair, Av" uniqKey="Nair A">AV Nair</name></author><author><name sortKey="Battistone, Ma" uniqKey="Battistone M">MA Battistone</name></author><author><name sortKey="P Unescu, Tg" uniqKey="P Unescu T">TG Păunescu</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wu, H" uniqKey="Wu H">H Wu</name></author><author><name sortKey="Malone, Af" uniqKey="Malone A">AF Malone</name></author><author><name sortKey="Donnelly, El" uniqKey="Donnelly E">EL Donnelly</name></author><author><name sortKey="Kirita, Y" uniqKey="Kirita Y">Y Kirita</name></author><author><name sortKey="Uchimura, K" uniqKey="Uchimura K">K Uchimura</name></author><author><name sortKey="Ramakrishnan, Sm" uniqKey="Ramakrishnan S">SM Ramakrishnan</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Cina, Dp" uniqKey="Cina D">DP Cinà</name></author><author><name sortKey="Onay, T" uniqKey="Onay T">T Onay</name></author><author><name sortKey="Paltoo, A" uniqKey="Paltoo A">A Paltoo</name></author><author><name sortKey="Li, C" uniqKey="Li C">C Li</name></author><author><name sortKey="Maezawa, Y" uniqKey="Maezawa Y">Y Maezawa</name></author><author><name sortKey="De Arteaga, J" uniqKey="De Arteaga J">J De Arteaga</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Dymecki, Sm" uniqKey="Dymecki S">SM Dymecki</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lakso, M" uniqKey="Lakso M">M Lakso</name></author><author><name sortKey="Pichel, Jg" uniqKey="Pichel J">JG Pichel</name></author><author><name sortKey="Gorman, Jr" uniqKey="Gorman J">JR Gorman</name></author><author><name sortKey="Sauer, B" uniqKey="Sauer B">B Sauer</name></author><author><name sortKey="Okamoto, Y" uniqKey="Okamoto Y">Y Okamoto</name></author><author><name sortKey="Lee, E" uniqKey="Lee E">E Lee</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Sorensen, I" uniqKey="Sorensen I">I Sörensen</name></author><author><name sortKey="Adams, Rh" uniqKey="Adams R">RH Adams</name></author><author><name sortKey="Gossler, A" uniqKey="Gossler A">A Gossler</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Eremina, V" uniqKey="Eremina V">V Eremina</name></author><author><name sortKey="Wong, Ma" uniqKey="Wong M">MA Wong</name></author><author><name sortKey="Cui, S" uniqKey="Cui S">S Cui</name></author><author><name sortKey="Schwartz, L" uniqKey="Schwartz L">L Schwartz</name></author><author><name sortKey="Quaggin, Se" uniqKey="Quaggin S">SE Quaggin</name></author></analytic></biblStruct></listBibl></div1></back></TEI><pmc article-type="research-article"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Front Med (Lausanne)</journal-id><journal-id journal-id-type="iso-abbrev">Front Med (Lausanne)</journal-id><journal-id journal-id-type="publisher-id">Front. Med.</journal-id><journal-title-group><journal-title>Frontiers in Medicine</journal-title></journal-title-group><issn pub-type="epub">2296-858X</issn><publisher><publisher-name>Frontiers Media S.A.</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">31508419</article-id><article-id pub-id-type="pmc">6718710</article-id><article-id pub-id-type="doi">10.3389/fmed.2019.00189</article-id><article-categories><subj-group subj-group-type="heading"><subject>Medicine</subject><subj-group><subject>Original Research</subject></subj-group></subj-group></article-categories><title-group><article-title>Genetic Deletion of <italic>Emp2</italic> Does Not Cause Proteinuric Kidney Disease in Mice</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Donnan</surname><given-names>Michael D.</given-names></name><uri xlink:type="simple" xlink:href="http://loop.frontiersin.org/people/716927/overview"></uri></contrib><contrib contrib-type="author"><name><surname>Scott</surname><given-names>Rizaldy P.</given-names></name><uri xlink:type="simple" xlink:href="http://loop.frontiersin.org/people/311620/overview"></uri></contrib><contrib contrib-type="author"><name><surname>Onay</surname><given-names>Tuncer</given-names></name><uri xlink:type="simple" xlink:href="http://loop.frontiersin.org/people/732149/overview"></uri></contrib><contrib contrib-type="author"><name><surname>Tarjus</surname><given-names>Antoine</given-names></name><uri xlink:type="simple" xlink:href="http://loop.frontiersin.org/people/505402/overview"></uri></contrib><contrib contrib-type="author"><name><surname>Onay</surname><given-names>Ummiye Venus</given-names></name><uri xlink:type="simple" xlink:href="http://loop.frontiersin.org/people/791789/overview"></uri></contrib><contrib contrib-type="author"><name><surname>Quaggin</surname><given-names>Susan E.</given-names></name><xref ref-type="corresp" rid="c001"><sup>*</sup></xref><uri xlink:type="simple" xlink:href="http://loop.frontiersin.org/people/762543/overview"></uri></contrib></contrib-group><aff><institution>Division of Nephrology and Hypertension, Feinberg Cardiovascular and Renal Research Institute, Northwestern University Feinberg School of Medicine</institution>,<addr-line>Chicago, IL</addr-line>,<country>United States</country></aff><author-notes><fn fn-type="edited-by"><p>Edited by: Heon Yung Gee, Yonsei University, South Korea</p></fn><fn fn-type="edited-by"><p>Reviewed by: Sandra Merscher, University of Miami, United States; Shuta Ishibe, Yale University, United States</p></fn><corresp id="c001">*Correspondence: Susan E. Quaggin <email>quaggin@northwestern.edu</email></corresp><fn fn-type="other" id="fn001"><p>This article was submitted to Nephrology, a section of the journal Frontiers in Medicine</p></fn></author-notes><pub-date pub-type="epub"><day>27</day><month>8</month><year>2019</year></pub-date><pub-date pub-type="collection"><year>2019</year></pub-date><volume>6</volume><elocation-id>189</elocation-id><history><date date-type="received"><day>24</day><month>5</month><year>2019</year></date><date date-type="accepted"><day>09</day><month>8</month><year>2019</year></date></history><permissions><copyright-statement>Copyright © 2019 Donnan, Scott, Onay, Tarjus, Onay and Quaggin.</copyright-statement><copyright-year>2019</copyright-year><copyright-holder>Donnan, Scott, Onay, Tarjus, Onay and Quaggin</copyright-holder><license xlink:href="http://creativecommons.org/licenses/by/4.0/"><license-p>This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.</license-p></license></permissions><abstract><p>Nephrotic syndrome is one of the most common glomerular diseases in children and can be classified on the basis of steroid responsiveness. While multiple genetic causes have been discovered for steroid resistant nephrotic syndrome, the genetics of steroid sensitive nephrotic syndrome remains elusive. Mutations in Epithelial Membrane Protein 2 (<italic>EMP2</italic>), a member of the GAS3/PMP22 tetraspan family of proteins, were recently implicated as putative monogenic cause of steroid sensitive nephrotic syndrome. We investigated this hypothesis by developing <italic>Emp2</italic> reporter and knockout mouse models. In <italic>lacZ</italic> reporter mice (engineered to drive expression of the enzyme β-galactosidase under the control of the endogenous murine <italic>Emp2</italic> promoter), <italic>Emp2</italic> promoter activity was not observed in podocytes but was particularly prominent in medium- and large-caliber arterial vessels in the kidney and other tissues where it localizes specifically in vascular smooth muscle cells (vSMCs) but not in the endothelium. Strong <italic>Emp2</italic> expression was also found in non-vascular smooth muscle cells found in other organs like the stomach, bladder, and uterus. Global and podocyte-specific <italic>Emp2</italic> knockout mice were viable and did not develop nephrotic syndrome showing no evidence of abnormal glomerular histology or ultrastructure. Altogether, our results do not support that loss of function of <italic>EMP2</italic> represent a monogenic cause of proteinuric kidney disease. However, the expression pattern of <italic>Emp2</italic> indicates that it may be relevant in smooth muscle function in various organs and tissues including the vasculature.</p></abstract><kwd-group><kwd><italic>Emp2</italic></kwd><kwd>nephrotic syndrome</kwd><kwd>proteinuria</kwd><kwd>smooth muscle</kwd><kwd>vascular</kwd></kwd-group><counts><fig-count count="7"></fig-count><table-count count="0"></table-count><equation-count count="0"></equation-count><ref-count count="45"></ref-count><page-count count="11"></page-count><word-count count="6574"></word-count></counts></article-meta></front></pmc><affiliations><list></list><tree><noCountry><name sortKey="Donnan, Michael D" sort="Donnan, Michael D" uniqKey="Donnan M" first="Michael D." last="Donnan">Michael D. Donnan</name><name sortKey="Onay, Tuncer" sort="Onay, Tuncer" uniqKey="Onay T" first="Tuncer" last="Onay">Tuncer Onay</name><name sortKey="Onay, Ummiye Venus" sort="Onay, Ummiye Venus" uniqKey="Onay U" first="Ummiye Venus" last="Onay">Ummiye Venus Onay</name><name sortKey="Quaggin, Susan E" sort="Quaggin, Susan E" uniqKey="Quaggin S" first="Susan E." last="Quaggin">Susan E. Quaggin</name><name sortKey="Scott, Rizaldy P" sort="Scott, Rizaldy P" uniqKey="Scott R" first="Rizaldy P." last="Scott">Rizaldy P. Scott</name><name sortKey="Tarjus, Antoine" sort="Tarjus, Antoine" uniqKey="Tarjus A" first="Antoine" last="Tarjus">Antoine Tarjus</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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