Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.
Identifieur interne : 002900 ( PubMed/Curation ); précédent : 002899; suivant : 002901Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.
Auteurs : Asma Chaoui [France] ; Anthula Kavo [France] ; Viviane Baral [France] ; Yuli Watanabe [France] ; Laure Lecerf [France] ; Alison Colley ; Roberto Mendoza-Londono [Canada] ; Veronique Pingault [France] ; Nadege Bondurand [France]Source :
- Human molecular genetics [ 1460-2083 ] ; 2015.
Descripteurs français
- KwdFr :
- Expression des gènes, Facteurs de transcription Oct (génétique), Facteurs de transcription Oct (métabolisme), Facteurs de transcription SOX-E (génétique), Facteurs de transcription SOX-E (métabolisme), Humains, Liaison aux protéines, Lignée cellulaire, Mutation faux-sens, Mélanome (génétique), Mélanome (métabolisme), Noyau de la cellule (métabolisme), Phénotype, Protéines associées à la matrice nucléaire (génétique), Protéines associées à la matrice nucléaire (métabolisme), Protéines de liaison à l'ARN (génétique), Protéines de liaison à l'ARN (métabolisme), Syndrome de Waardenburg (génétique), Syndrome de Waardenburg (métabolisme), Transport de protéines, Études d'associations génétiques.
- MESH :
- génétique : Facteurs de transcription Oct, Facteurs de transcription SOX-E, Mélanome, Protéines associées à la matrice nucléaire, Protéines de liaison à l'ARN, Syndrome de Waardenburg.
- métabolisme : Facteurs de transcription Oct, Facteurs de transcription SOX-E, Mélanome, Noyau de la cellule, Protéines associées à la matrice nucléaire, Protéines de liaison à l'ARN, Syndrome de Waardenburg.
- Expression des gènes, Humains, Liaison aux protéines, Lignée cellulaire, Mutation faux-sens, Phénotype, Transport de protéines, Études d'associations génétiques.
English descriptors
- KwdEn :
- Cell Line, Cell Nucleus (metabolism), Gene Expression, Genetic Association Studies, Humans, Melanoma (genetics), Melanoma (metabolism), Mutation, Missense, Nuclear Matrix-Associated Proteins (genetics), Nuclear Matrix-Associated Proteins (metabolism), Octamer Transcription Factors (genetics), Octamer Transcription Factors (metabolism), Phenotype, Protein Binding, Protein Transport, RNA-Binding Proteins (genetics), RNA-Binding Proteins (metabolism), SOXE Transcription Factors (genetics), SOXE Transcription Factors (metabolism), Waardenburg Syndrome (genetics), Waardenburg Syndrome (metabolism).
- MESH :
- chemical , genetics : Nuclear Matrix-Associated Proteins, Octamer Transcription Factors, RNA-Binding Proteins, SOXE Transcription Factors.
- genetics : Melanoma, Waardenburg Syndrome.
- metabolism : Cell Nucleus, Melanoma, Nuclear Matrix-Associated Proteins, Octamer Transcription Factors, RNA-Binding Proteins, SOXE Transcription Factors, Waardenburg Syndrome.
- Cell Line, Gene Expression, Genetic Association Studies, Humans, Mutation, Missense, Phenotype, Protein Binding, Protein Transport.
Abstract
SOX10 is a transcription factor with well-known functions in neural crest and oligodendrocyte development. Mutations in SOX10 were first associated with Waardenburg-Hirschsprung disease (WS4; deafness, pigmentation defects and intestinal aganglionosis). However, variable phenotypes that extend beyond the WS4 definition are now reported. The neurological phenotypes associated with some truncating mutations are suggested to be the result of escape from the nonsense-mediated mRNA decay pathway; but, to date, no mechanism has been suggested for missense mutations, of which approximately 20 have now been reported, with about half of the latter shown to be redistributed to nuclear bodies of undetermined nature and function in vitro. Here, we report that p54NRB, which plays a crucial role in the regulation of gene expression during many cellular processes including differentiation, interacts synergistically with SOX10 to regulate several target genes. Interestingly, this paraspeckle protein, as well as two other members of the Drosophila behavior human splicing (DBHS) protein family, co-localize with SOX10 mutants in nuclear bodies, suggesting the possible paraspeckle nature of these foci or re-localization of the DBHS members to other subnuclear compartments. Remarkably, the co-transfection of wild-type and mutant SOX10 constructs led to the sequestration of wild-type protein in mutant-induced foci. In contrast to mutants presenting with additional cytoplasmic re-localization, those exclusively found in the nucleus alter synergistic activity between SOX10 and p54NRB. We propose that such a dominant negative effect may contribute to or be at the origin of the unique progressive and severe neurological phenotype observed in affected patients.
DOI: 10.1093/hmg/ddv215
PubMed: 26060192
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Alison Colley<affiliation><nlm:affiliation>Department of Clinical Genetics, Liverpool Hospital, Australia and.</nlm:affiliation><wicri:noCountry code="subField">Australia and</wicri:noCountry></affiliation>Le document en format XML
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Créteil, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U955, Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU Ageing-Thorax-Vessel-Blood, F-94000 Créteil</wicri:regionArea></affiliation></author><author><name sortKey="Bondurand, Nadege" sort="Bondurand, Nadege" uniqKey="Bondurand N" first="Nadege" last="Bondurand">Nadege Bondurand</name><affiliation wicri:level="1"><nlm:affiliation>INSERM, U955, Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU Ageing-Thorax-Vessel-Blood, F-94000 Créteil, France, nadege.bondurand@inserm.fr.</nlm:affiliation><country wicri:rule="url">France</country><wicri:regionArea>INSERM, U955, Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU 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Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU Ageing-Thorax-Vessel-Blood, F-94000 Créteil, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U955, Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU Ageing-Thorax-Vessel-Blood, F-94000 Créteil</wicri:regionArea></affiliation></author><author><name sortKey="Kavo, Anthula" sort="Kavo, Anthula" uniqKey="Kavo A" first="Anthula" last="Kavo">Anthula Kavo</name><affiliation wicri:level="1"><nlm:affiliation>INSERM, U955, Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU Ageing-Thorax-Vessel-Blood, F-94000 Créteil, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U955, Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU Ageing-Thorax-Vessel-Blood, F-94000 Créteil</wicri:regionArea></affiliation></author><author><name sortKey="Baral, Viviane" sort="Baral, Viviane" uniqKey="Baral V" first="Viviane" last="Baral">Viviane Baral</name><affiliation wicri:level="1"><nlm:affiliation>INSERM, U955, Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU Ageing-Thorax-Vessel-Blood, F-94000 Créteil, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U955, Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU Ageing-Thorax-Vessel-Blood, F-94000 Créteil</wicri:regionArea></affiliation></author><author><name sortKey="Watanabe, Yuli" sort="Watanabe, Yuli" uniqKey="Watanabe Y" first="Yuli" last="Watanabe">Yuli Watanabe</name><affiliation wicri:level="1"><nlm:affiliation>INSERM, U955, Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU Ageing-Thorax-Vessel-Blood, F-94000 Créteil, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U955, Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU Ageing-Thorax-Vessel-Blood, F-94000 Créteil</wicri:regionArea></affiliation></author><author><name sortKey="Lecerf, Laure" sort="Lecerf, Laure" uniqKey="Lecerf L" first="Laure" last="Lecerf">Laure Lecerf</name><affiliation wicri:level="1"><nlm:affiliation>INSERM, U955, Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU Ageing-Thorax-Vessel-Blood, F-94000 Créteil, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U955, Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU Ageing-Thorax-Vessel-Blood, F-94000 Créteil</wicri:regionArea></affiliation></author><author><name sortKey="Colley, Alison" sort="Colley, Alison" uniqKey="Colley A" first="Alison" last="Colley">Alison Colley</name><affiliation><nlm:affiliation>Department of Clinical Genetics, Liverpool Hospital, Australia and.</nlm:affiliation><wicri:noCountry code="subField">Australia and</wicri:noCountry></affiliation></author><author><name sortKey="Mendoza Londono, Roberto" sort="Mendoza Londono, Roberto" uniqKey="Mendoza Londono R" first="Roberto" last="Mendoza-Londono">Roberto Mendoza-Londono</name><affiliation wicri:level="1"><nlm:affiliation>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto</wicri:regionArea></affiliation></author><author><name sortKey="Pingault, Veronique" sort="Pingault, Veronique" uniqKey="Pingault V" first="Veronique" last="Pingault">Veronique Pingault</name><affiliation wicri:level="1"><nlm:affiliation>INSERM, U955, Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU Ageing-Thorax-Vessel-Blood, F-94000 Créteil, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U955, Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU Ageing-Thorax-Vessel-Blood, F-94000 Créteil</wicri:regionArea></affiliation></author><author><name sortKey="Bondurand, Nadege" sort="Bondurand, Nadege" uniqKey="Bondurand N" first="Nadege" last="Bondurand">Nadege Bondurand</name><affiliation wicri:level="1"><nlm:affiliation>INSERM, U955, Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU Ageing-Thorax-Vessel-Blood, F-94000 Créteil, France, nadege.bondurand@inserm.fr.</nlm:affiliation><country wicri:rule="url">France</country><wicri:regionArea>INSERM, U955, Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU Ageing-Thorax-Vessel-Blood, F-94000 Créteil, France</wicri:regionArea></affiliation></author></analytic><series><title level="j">Human molecular genetics</title><idno type="eISSN">1460-2083</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cell Line</term><term>Cell Nucleus (metabolism)</term><term>Gene Expression</term><term>Genetic Association Studies</term><term>Humans</term><term>Melanoma (genetics)</term><term>Melanoma (metabolism)</term><term>Mutation, Missense</term><term>Nuclear Matrix-Associated Proteins (genetics)</term><term>Nuclear Matrix-Associated Proteins (metabolism)</term><term>Octamer Transcription Factors (genetics)</term><term>Octamer Transcription Factors (metabolism)</term><term>Phenotype</term><term>Protein Binding</term><term>Protein Transport</term><term>RNA-Binding Proteins (genetics)</term><term>RNA-Binding Proteins (metabolism)</term><term>SOXE Transcription Factors (genetics)</term><term>SOXE Transcription Factors (metabolism)</term><term>Waardenburg Syndrome (genetics)</term><term>Waardenburg Syndrome (metabolism)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Expression des gènes</term><term>Facteurs de transcription Oct (génétique)</term><term>Facteurs de transcription Oct (métabolisme)</term><term>Facteurs de transcription SOX-E (génétique)</term><term>Facteurs de transcription SOX-E (métabolisme)</term><term>Humains</term><term>Liaison aux protéines</term><term>Lignée cellulaire</term><term>Mutation faux-sens</term><term>Mélanome (génétique)</term><term>Mélanome (métabolisme)</term><term>Noyau de la cellule (métabolisme)</term><term>Phénotype</term><term>Protéines associées à la matrice nucléaire (génétique)</term><term>Protéines associées à la matrice nucléaire (métabolisme)</term><term>Protéines de liaison à l'ARN (génétique)</term><term>Protéines de liaison à l'ARN (métabolisme)</term><term>Syndrome de Waardenburg (génétique)</term><term>Syndrome de Waardenburg (métabolisme)</term><term>Transport de protéines</term><term>Études d'associations génétiques</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nuclear Matrix-Associated Proteins</term><term>Octamer Transcription Factors</term><term>RNA-Binding Proteins</term><term>SOXE Transcription Factors</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Melanoma</term><term>Waardenburg Syndrome</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Facteurs de transcription Oct</term><term>Facteurs de transcription SOX-E</term><term>Mélanome</term><term>Protéines associées à la matrice nucléaire</term><term>Protéines de liaison à l'ARN</term><term>Syndrome de Waardenburg</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Cell Nucleus</term><term>Melanoma</term><term>Nuclear Matrix-Associated Proteins</term><term>Octamer Transcription Factors</term><term>RNA-Binding Proteins</term><term>SOXE Transcription Factors</term><term>Waardenburg Syndrome</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Facteurs de transcription Oct</term><term>Facteurs de transcription SOX-E</term><term>Mélanome</term><term>Noyau de la cellule</term><term>Protéines associées à la matrice nucléaire</term><term>Protéines de liaison à l'ARN</term><term>Syndrome de Waardenburg</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Cell Line</term><term>Gene Expression</term><term>Genetic Association Studies</term><term>Humans</term><term>Mutation, Missense</term><term>Phenotype</term><term>Protein Binding</term><term>Protein Transport</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Expression des gènes</term><term>Humains</term><term>Liaison aux protéines</term><term>Lignée cellulaire</term><term>Mutation faux-sens</term><term>Phénotype</term><term>Transport de protéines</term><term>Études d'associations génétiques</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">SOX10 is a transcription factor with well-known functions in neural crest and oligodendrocyte development. Mutations in SOX10 were first associated with Waardenburg-Hirschsprung disease (WS4; deafness, pigmentation defects and intestinal aganglionosis). However, variable phenotypes that extend beyond the WS4 definition are now reported. The neurological phenotypes associated with some truncating mutations are suggested to be the result of escape from the nonsense-mediated mRNA decay pathway; but, to date, no mechanism has been suggested for missense mutations, of which approximately 20 have now been reported, with about half of the latter shown to be redistributed to nuclear bodies of undetermined nature and function in vitro. Here, we report that p54NRB, which plays a crucial role in the regulation of gene expression during many cellular processes including differentiation, interacts synergistically with SOX10 to regulate several target genes. Interestingly, this paraspeckle protein, as well as two other members of the Drosophila behavior human splicing (DBHS) protein family, co-localize with SOX10 mutants in nuclear bodies, suggesting the possible paraspeckle nature of these foci or re-localization of the DBHS members to other subnuclear compartments. Remarkably, the co-transfection of wild-type and mutant SOX10 constructs led to the sequestration of wild-type protein in mutant-induced foci. In contrast to mutants presenting with additional cytoplasmic re-localization, those exclusively found in the nucleus alter synergistic activity between SOX10 and p54NRB. We propose that such a dominant negative effect may contribute to or be at the origin of the unique progressive and severe neurological phenotype observed in affected patients.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26060192</PMID><DateCreated><Year>2015</Year><Month>08</Month><Day>07</Day></DateCreated><DateCompleted><Year>2016</Year><Month>05</Month><Day>11</Day></DateCompleted><DateRevised><Year>2015</Year><Month>08</Month><Day>07</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1460-2083</ISSN><JournalIssue CitedMedium="Internet"><Volume>24</Volume><Issue>17</Issue><PubDate><Year>2015</Year><Month>Sep</Month><Day>01</Day></PubDate></JournalIssue><Title>Human molecular genetics</Title><ISOAbbreviation>Hum. Mol. Genet.</ISOAbbreviation></Journal><ArticleTitle>Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.</ArticleTitle><Pagination><MedlinePgn>4933-47</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1093/hmg/ddv215</ELocationID><Abstract><AbstractText>SOX10 is a transcription factor with well-known functions in neural crest and oligodendrocyte development. Mutations in SOX10 were first associated with Waardenburg-Hirschsprung disease (WS4; deafness, pigmentation defects and intestinal aganglionosis). However, variable phenotypes that extend beyond the WS4 definition are now reported. The neurological phenotypes associated with some truncating mutations are suggested to be the result of escape from the nonsense-mediated mRNA decay pathway; but, to date, no mechanism has been suggested for missense mutations, of which approximately 20 have now been reported, with about half of the latter shown to be redistributed to nuclear bodies of undetermined nature and function in vitro. Here, we report that p54NRB, which plays a crucial role in the regulation of gene expression during many cellular processes including differentiation, interacts synergistically with SOX10 to regulate several target genes. Interestingly, this paraspeckle protein, as well as two other members of the Drosophila behavior human splicing (DBHS) protein family, co-localize with SOX10 mutants in nuclear bodies, suggesting the possible paraspeckle nature of these foci or re-localization of the DBHS members to other subnuclear compartments. Remarkably, the co-transfection of wild-type and mutant SOX10 constructs led to the sequestration of wild-type protein in mutant-induced foci. In contrast to mutants presenting with additional cytoplasmic re-localization, those exclusively found in the nucleus alter synergistic activity between SOX10 and p54NRB. We propose that such a dominant negative effect may contribute to or be at the origin of the unique progressive and severe neurological phenotype observed in affected patients.</AbstractText><CopyrightInformation>© The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Chaoui</LastName><ForeName>Asma</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>INSERM, U955, Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU Ageing-Thorax-Vessel-Blood, F-94000 Créteil, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kavo</LastName><ForeName>Anthula</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>INSERM, U955, Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU Ageing-Thorax-Vessel-Blood, F-94000 Créteil, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Baral</LastName><ForeName>Viviane</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>INSERM, U955, Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU Ageing-Thorax-Vessel-Blood, F-94000 Créteil, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Watanabe</LastName><ForeName>Yuli</ForeName><Initials>Y</Initials><AffiliationInfo><Affiliation>INSERM, U955, Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU Ageing-Thorax-Vessel-Blood, F-94000 Créteil, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lecerf</LastName><ForeName>Laure</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>INSERM, U955, Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU Ageing-Thorax-Vessel-Blood, F-94000 Créteil, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Colley</LastName><ForeName>Alison</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics, Liverpool Hospital, Australia and.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mendoza-Londono</LastName><ForeName>Roberto</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pingault</LastName><ForeName>Veronique</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>INSERM, U955, Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU Ageing-Thorax-Vessel-Blood, F-94000 Créteil, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bondurand</LastName><ForeName>Nadege</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>INSERM, U955, Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU Ageing-Thorax-Vessel-Blood, F-94000 Créteil, France, nadege.bondurand@inserm.fr.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2015</Year><Month>06</Month><Day>09</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Hum Mol Genet</MedlineTA><NlmUniqueID>9208958</NlmUniqueID><ISSNLinking>0964-6906</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C083214">NONO protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D034521">Nuclear Matrix-Associated Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D050810">Octamer Transcription Factors</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D016601">RNA-Binding Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C527923">SOX10 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D055757">SOXE Transcription Factors</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D002460" MajorTopicYN="N">Cell Line</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002467" MajorTopicYN="N">Cell Nucleus</DescriptorName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D015870" MajorTopicYN="N">Gene Expression</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D056726" MajorTopicYN="Y">Genetic Association Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008545" MajorTopicYN="N">Melanoma</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D020125" MajorTopicYN="Y">Mutation, Missense</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D034521" MajorTopicYN="N">Nuclear Matrix-Associated Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="Y">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D050810" MajorTopicYN="N">Octamer Transcription Factors</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="Y">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010641" MajorTopicYN="Y">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D011485" MajorTopicYN="N">Protein Binding</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D021381" MajorTopicYN="N">Protein Transport</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016601" MajorTopicYN="N">RNA-Binding Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="Y">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D055757" MajorTopicYN="N">SOXE Transcription Factors</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="Y">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D014849" MajorTopicYN="N">Waardenburg Syndrome</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>04</Month><Day>30</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2015</Year><Month>06</Month><Day>04</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>6</Month><Day>11</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2015</Year><Month>6</Month><Day>11</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>5</Month><Day>12</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">26060192</ArticleId><ArticleId IdType="pii">ddv215</ArticleId><ArticleId IdType="doi">10.1093/hmg/ddv215</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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