A common intronic variant of PARP1 confers melanoma risk and mediates melanocyte growth via regulation of MITF.
Identifieur interne : 001303 ( Main/Exploration ); précédent : 001302; suivant : 001304A common intronic variant of PARP1 confers melanoma risk and mediates melanocyte growth via regulation of MITF.
Auteurs : Jiyeon Choi [États-Unis] ; Mai Xu [États-Unis] ; Matthew M. Makowski [Pays-Bas] ; Tongwu Zhang [États-Unis] ; Matthew H. Law [Australie] ; Michael A. Kovacs [États-Unis] ; Anton Granzhan [France] ; Wendy J. Kim [États-Unis] ; Hemang Parikh [États-Unis] ; Michael Gartside [Australie] ; Jeffrey M. Trent [États-Unis] ; Marie-Paule Teulade-Fichou [France] ; Mark M. Iles [Royaume-Uni] ; Julia A. Newton-Bishop [Royaume-Uni] ; D Timothy Bishop [Royaume-Uni] ; Stuart Macgregor [Australie] ; Nicholas K. Hayward [Australie] ; Michiel Vermeulen [Pays-Bas] ; Kevin M. Brown [États-Unis]Source :
- Nature genetics [ 1546-1718 ] ; 2017.
Descripteurs français
- KwdFr :
- Analyse de profil d'expression de gènes (), Cellules cultivées, Facteur de transcription associé à la microphtalmie (génétique), Facteur de transcription associé à la microphtalmie (métabolisme), Facteurs de risque, Humains, Immunotransfert, Introns (génétique), Lignée cellulaire tumorale, Microscopie confocale, Mutation de type INDEL, Mélanocytes (métabolisme), Mélanome (anatomopathologie), Mélanome (génétique), Mélanome (métabolisme), Poly (ADP-Ribose) polymerase-1 (génétique), Poly (ADP-Ribose) polymerase-1 (métabolisme), Polymorphisme de nucléotide simple, Prolifération cellulaire (génétique), Protéines proto-oncogènes B-raf (génétique), Protéines proto-oncogènes B-raf (métabolisme), Régulation de l'expression des gènes tumoraux, Séquence nucléotidique, Telomerase (génétique), Telomerase (métabolisme), Transformation cellulaire néoplasique (génétique), Vieillissement de la cellule (génétique).
- MESH :
- anatomopathologie : Mélanome.
- génétique : Facteur de transcription associé à la microphtalmie, Introns, Mélanome, Poly (ADP-Ribose) polymerase-1, Prolifération cellulaire, Protéines proto-oncogènes B-raf, Telomerase, Transformation cellulaire néoplasique, Vieillissement de la cellule.
- métabolisme : Facteur de transcription associé à la microphtalmie, Mélanocytes, Mélanome, Poly (ADP-Ribose) polymerase-1, Protéines proto-oncogènes B-raf, Telomerase.
- Analyse de profil d'expression de gènes, Cellules cultivées, Facteurs de risque, Humains, Immunotransfert, Lignée cellulaire tumorale, Microscopie confocale, Mutation de type INDEL, Polymorphisme de nucléotide simple, Régulation de l'expression des gènes tumoraux, Séquence nucléotidique.
English descriptors
- KwdEn :
- Base Sequence, Cell Aging (genetics), Cell Line, Tumor, Cell Proliferation (genetics), Cell Transformation, Neoplastic (genetics), Cells, Cultured, Gene Expression Profiling (methods), Gene Expression Regulation, Neoplastic, Humans, INDEL Mutation, Immunoblotting, Introns (genetics), Melanocytes (metabolism), Melanoma (genetics), Melanoma (metabolism), Melanoma (pathology), Microphthalmia-Associated Transcription Factor (genetics), Microphthalmia-Associated Transcription Factor (metabolism), Microscopy, Confocal, Poly (ADP-Ribose) Polymerase-1 (genetics), Poly (ADP-Ribose) Polymerase-1 (metabolism), Polymorphism, Single Nucleotide, Proto-Oncogene Proteins B-raf (genetics), Proto-Oncogene Proteins B-raf (metabolism), Risk Factors, Telomerase (genetics), Telomerase (metabolism).
- MESH :
- chemical , genetics : Microphthalmia-Associated Transcription Factor, Poly (ADP-Ribose) Polymerase-1, Proto-Oncogene Proteins B-raf, Telomerase.
- genetics : Cell Aging, Cell Proliferation, Cell Transformation, Neoplastic, Introns, Melanoma.
- metabolism : Melanocytes, Melanoma, Microphthalmia-Associated Transcription Factor, Poly (ADP-Ribose) Polymerase-1, Proto-Oncogene Proteins B-raf, Telomerase.
- methods : Gene Expression Profiling.
- pathology : Melanoma.
- Base Sequence, Cell Line, Tumor, Cells, Cultured, Gene Expression Regulation, Neoplastic, Humans, INDEL Mutation, Immunoblotting, Microscopy, Confocal, Polymorphism, Single Nucleotide, Risk Factors.
Abstract
Previous genome-wide association studies have identified a melanoma-associated locus at 1q42.1 that encompasses a ∼100-kb region spanning the PARP1 gene. Expression quantitative trait locus (eQTL) analysis in multiple cell types of the melanocytic lineage consistently demonstrated that the 1q42.1 melanoma risk allele (rs3219090[G]) is correlated with higher PARP1 levels. In silico fine-mapping and functional validation identified a common intronic indel, rs144361550 (-/GGGCCC; r(2) = 0.947 with rs3219090), as displaying allele-specific transcriptional activity. A proteomic screen identified RECQL as binding to rs144361550 in an allele-preferential manner. In human primary melanocytes, PARP1 promoted cell proliferation and rescued BRAF(V600E)-induced senescence phenotypes in a PARylation-independent manner. PARP1 also transformed TERT-immortalized melanocytes expressing BRAF(V600E). PARP1-mediated senescence rescue was accompanied by transcriptional activation of the melanocyte-lineage survival oncogene MITF, highlighting a new role for PARP1 in melanomagenesis.
DOI: 10.1038/ng.3927
PubMed: 28759004
Affiliations:
- Australie, France, Pays-Bas, Royaume-Uni, États-Unis
- Angleterre, Arizona, Gueldre, Maryland, Yorkshire-et-Humber
- Leeds, Nimègue, Orsay
- Université de Leeds
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Le document en format XML
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<sourceDesc><biblStruct><analytic><title xml:lang="en">A common intronic variant of PARP1 confers melanoma risk and mediates melanocyte growth via regulation of MITF.</title>
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<author><name sortKey="Teulade Fichou, Marie Paule" sort="Teulade Fichou, Marie Paule" uniqKey="Teulade Fichou M" first="Marie-Paule" last="Teulade-Fichou">Marie-Paule Teulade-Fichou</name>
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<country xml:lang="fr">France</country>
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<author><name sortKey="Iles, Mark M" sort="Iles, Mark M" uniqKey="Iles M" first="Mark M" last="Iles">Mark M. Iles</name>
<affiliation wicri:level="4"><nlm:affiliation>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.</nlm:affiliation>
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<wicri:regionArea>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds</wicri:regionArea>
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<author><name sortKey="Newton Bishop, Julia A" sort="Newton Bishop, Julia A" uniqKey="Newton Bishop J" first="Julia A" last="Newton-Bishop">Julia A. Newton-Bishop</name>
<affiliation wicri:level="4"><nlm:affiliation>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds</wicri:regionArea>
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<author><name sortKey="Bishop, D Timothy" sort="Bishop, D Timothy" uniqKey="Bishop D" first="D Timothy" last="Bishop">D Timothy Bishop</name>
<affiliation wicri:level="4"><nlm:affiliation>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds</wicri:regionArea>
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<region type="country">Angleterre</region>
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<author><name sortKey="Macgregor, Stuart" sort="Macgregor, Stuart" uniqKey="Macgregor S" first="Stuart" last="Macgregor">Stuart Macgregor</name>
<affiliation wicri:level="1"><nlm:affiliation>QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>QIMR Berghofer Medical Research Institute, Brisbane, Queensland</wicri:regionArea>
<wicri:noRegion>Queensland</wicri:noRegion>
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<author><name sortKey="Hayward, Nicholas K" sort="Hayward, Nicholas K" uniqKey="Hayward N" first="Nicholas K" last="Hayward">Nicholas K. Hayward</name>
<affiliation wicri:level="1"><nlm:affiliation>QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>QIMR Berghofer Medical Research Institute, Brisbane, Queensland</wicri:regionArea>
<wicri:noRegion>Queensland</wicri:noRegion>
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</author>
<author><name sortKey="Vermeulen, Michiel" sort="Vermeulen, Michiel" uniqKey="Vermeulen M" first="Michiel" last="Vermeulen">Michiel Vermeulen</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Molecular Biology, Faculty of Science, Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen, the Netherlands.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Molecular Biology, Faculty of Science, Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen</wicri:regionArea>
<placeName><settlement type="city">Nimègue</settlement>
<region type="province" nuts="2">Gueldre</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Brown, Kevin M" sort="Brown, Kevin M" uniqKey="Brown K" first="Kevin M" last="Brown">Kevin M. Brown</name>
<affiliation wicri:level="2"><nlm:affiliation>Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</region>
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<series><title level="j">Nature genetics</title>
<idno type="eISSN">1546-1718</idno>
<imprint><date when="2017" type="published">2017</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Base Sequence</term>
<term>Cell Aging (genetics)</term>
<term>Cell Line, Tumor</term>
<term>Cell Proliferation (genetics)</term>
<term>Cell Transformation, Neoplastic (genetics)</term>
<term>Cells, Cultured</term>
<term>Gene Expression Profiling (methods)</term>
<term>Gene Expression Regulation, Neoplastic</term>
<term>Humans</term>
<term>INDEL Mutation</term>
<term>Immunoblotting</term>
<term>Introns (genetics)</term>
<term>Melanocytes (metabolism)</term>
<term>Melanoma (genetics)</term>
<term>Melanoma (metabolism)</term>
<term>Melanoma (pathology)</term>
<term>Microphthalmia-Associated Transcription Factor (genetics)</term>
<term>Microphthalmia-Associated Transcription Factor (metabolism)</term>
<term>Microscopy, Confocal</term>
<term>Poly (ADP-Ribose) Polymerase-1 (genetics)</term>
<term>Poly (ADP-Ribose) Polymerase-1 (metabolism)</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Proto-Oncogene Proteins B-raf (genetics)</term>
<term>Proto-Oncogene Proteins B-raf (metabolism)</term>
<term>Risk Factors</term>
<term>Telomerase (genetics)</term>
<term>Telomerase (metabolism)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Analyse de profil d'expression de gènes ()</term>
<term>Cellules cultivées</term>
<term>Facteur de transcription associé à la microphtalmie (génétique)</term>
<term>Facteur de transcription associé à la microphtalmie (métabolisme)</term>
<term>Facteurs de risque</term>
<term>Humains</term>
<term>Immunotransfert</term>
<term>Introns (génétique)</term>
<term>Lignée cellulaire tumorale</term>
<term>Microscopie confocale</term>
<term>Mutation de type INDEL</term>
<term>Mélanocytes (métabolisme)</term>
<term>Mélanome (anatomopathologie)</term>
<term>Mélanome (génétique)</term>
<term>Mélanome (métabolisme)</term>
<term>Poly (ADP-Ribose) polymerase-1 (génétique)</term>
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<term>Polymorphisme de nucléotide simple</term>
<term>Prolifération cellulaire (génétique)</term>
<term>Protéines proto-oncogènes B-raf (génétique)</term>
<term>Protéines proto-oncogènes B-raf (métabolisme)</term>
<term>Régulation de l'expression des gènes tumoraux</term>
<term>Séquence nucléotidique</term>
<term>Telomerase (génétique)</term>
<term>Telomerase (métabolisme)</term>
<term>Transformation cellulaire néoplasique (génétique)</term>
<term>Vieillissement de la cellule (génétique)</term>
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<term>Telomerase</term>
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<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Mélanome</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cell Aging</term>
<term>Cell Proliferation</term>
<term>Cell Transformation, Neoplastic</term>
<term>Introns</term>
<term>Melanoma</term>
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<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Facteur de transcription associé à la microphtalmie</term>
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<term>Mélanome</term>
<term>Poly (ADP-Ribose) polymerase-1</term>
<term>Prolifération cellulaire</term>
<term>Protéines proto-oncogènes B-raf</term>
<term>Telomerase</term>
<term>Transformation cellulaire néoplasique</term>
<term>Vieillissement de la cellule</term>
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<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Melanocytes</term>
<term>Melanoma</term>
<term>Microphthalmia-Associated Transcription Factor</term>
<term>Poly (ADP-Ribose) Polymerase-1</term>
<term>Proto-Oncogene Proteins B-raf</term>
<term>Telomerase</term>
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<term>Mélanocytes</term>
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<term>Poly (ADP-Ribose) polymerase-1</term>
<term>Protéines proto-oncogènes B-raf</term>
<term>Telomerase</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Melanoma</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Base Sequence</term>
<term>Cell Line, Tumor</term>
<term>Cells, Cultured</term>
<term>Gene Expression Regulation, Neoplastic</term>
<term>Humans</term>
<term>INDEL Mutation</term>
<term>Immunoblotting</term>
<term>Microscopy, Confocal</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Risk Factors</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Analyse de profil d'expression de gènes</term>
<term>Cellules cultivées</term>
<term>Facteurs de risque</term>
<term>Humains</term>
<term>Immunotransfert</term>
<term>Lignée cellulaire tumorale</term>
<term>Microscopie confocale</term>
<term>Mutation de type INDEL</term>
<term>Polymorphisme de nucléotide simple</term>
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<front><div type="abstract" xml:lang="en">Previous genome-wide association studies have identified a melanoma-associated locus at 1q42.1 that encompasses a ∼100-kb region spanning the PARP1 gene. Expression quantitative trait locus (eQTL) analysis in multiple cell types of the melanocytic lineage consistently demonstrated that the 1q42.1 melanoma risk allele (rs3219090[G]) is correlated with higher PARP1 levels. In silico fine-mapping and functional validation identified a common intronic indel, rs144361550 (-/GGGCCC; r(2) = 0.947 with rs3219090), as displaying allele-specific transcriptional activity. A proteomic screen identified RECQL as binding to rs144361550 in an allele-preferential manner. In human primary melanocytes, PARP1 promoted cell proliferation and rescued BRAF(V600E)-induced senescence phenotypes in a PARylation-independent manner. PARP1 also transformed TERT-immortalized melanocytes expressing BRAF(V600E). PARP1-mediated senescence rescue was accompanied by transcriptional activation of the melanocyte-lineage survival oncogene MITF, highlighting a new role for PARP1 in melanomagenesis.</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
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<tree><country name="États-Unis"><region name="Maryland"><name sortKey="Choi, Jiyeon" sort="Choi, Jiyeon" uniqKey="Choi J" first="Jiyeon" last="Choi">Jiyeon Choi</name>
</region>
<name sortKey="Brown, Kevin M" sort="Brown, Kevin M" uniqKey="Brown K" first="Kevin M" last="Brown">Kevin M. Brown</name>
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<name sortKey="Kovacs, Michael A" sort="Kovacs, Michael A" uniqKey="Kovacs M" first="Michael A" last="Kovacs">Michael A. Kovacs</name>
<name sortKey="Parikh, Hemang" sort="Parikh, Hemang" uniqKey="Parikh H" first="Hemang" last="Parikh">Hemang Parikh</name>
<name sortKey="Trent, Jeffrey M" sort="Trent, Jeffrey M" uniqKey="Trent J" first="Jeffrey M" last="Trent">Jeffrey M. Trent</name>
<name sortKey="Xu, Mai" sort="Xu, Mai" uniqKey="Xu M" first="Mai" last="Xu">Mai Xu</name>
<name sortKey="Zhang, Tongwu" sort="Zhang, Tongwu" uniqKey="Zhang T" first="Tongwu" last="Zhang">Tongwu Zhang</name>
</country>
<country name="Pays-Bas"><region name="Gueldre"><name sortKey="Makowski, Matthew M" sort="Makowski, Matthew M" uniqKey="Makowski M" first="Matthew M" last="Makowski">Matthew M. Makowski</name>
</region>
<name sortKey="Vermeulen, Michiel" sort="Vermeulen, Michiel" uniqKey="Vermeulen M" first="Michiel" last="Vermeulen">Michiel Vermeulen</name>
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<country name="Australie"><noRegion><name sortKey="Law, Matthew H" sort="Law, Matthew H" uniqKey="Law M" first="Matthew H" last="Law">Matthew H. Law</name>
</noRegion>
<name sortKey="Gartside, Michael" sort="Gartside, Michael" uniqKey="Gartside M" first="Michael" last="Gartside">Michael Gartside</name>
<name sortKey="Hayward, Nicholas K" sort="Hayward, Nicholas K" uniqKey="Hayward N" first="Nicholas K" last="Hayward">Nicholas K. Hayward</name>
<name sortKey="Macgregor, Stuart" sort="Macgregor, Stuart" uniqKey="Macgregor S" first="Stuart" last="Macgregor">Stuart Macgregor</name>
</country>
<country name="France"><noRegion><name sortKey="Granzhan, Anton" sort="Granzhan, Anton" uniqKey="Granzhan A" first="Anton" last="Granzhan">Anton Granzhan</name>
</noRegion>
<name sortKey="Teulade Fichou, Marie Paule" sort="Teulade Fichou, Marie Paule" uniqKey="Teulade Fichou M" first="Marie-Paule" last="Teulade-Fichou">Marie-Paule Teulade-Fichou</name>
</country>
<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Iles, Mark M" sort="Iles, Mark M" uniqKey="Iles M" first="Mark M" last="Iles">Mark M. Iles</name>
</region>
<name sortKey="Bishop, D Timothy" sort="Bishop, D Timothy" uniqKey="Bishop D" first="D Timothy" last="Bishop">D Timothy Bishop</name>
<name sortKey="Newton Bishop, Julia A" sort="Newton Bishop, Julia A" uniqKey="Newton Bishop J" first="Julia A" last="Newton-Bishop">Julia A. Newton-Bishop</name>
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