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FältnamnIndikatorerMetadata
00005900naa a2200973 4500
001oai:lup.lub.lu.se:674fff73-37a1-4a8f-8da9-d943a8599e9a
003SwePub
008160401s2011 | |||||||||||000 ||eng|
0247 a https://lup.lub.lu.se/record/22916172 URI
0247 a https://doi.org/10.1038/nature105392 DOI
040 a (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Bertolotto, Corine4 aut
2451 0a A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma
264 c 2011-10-19
264 1b Springer Science and Business Media LLC,c 2011
520 a So far, no common environmental and/or phenotypic factor has been associated with melanoma and renal cell carcinoma (RCC). The known risk factors for melanoma include sun exposure, pigmentation and nevus phenotypes(1); risk factors associated with RCC include smoking, obesity and hypertension(2). A recent study of coexisting melanoma and RCC in the same patients supports a genetic predisposition underlying the association between these two cancers(3). The microphthalmia-associated transcription factor (MITF) has been proposed to act as a melanoma oncogene(4); it also stimulates the transcription of hypoxia inducible factor(5) (HIF1A), the pathway of which is targeted by kidney cancer susceptibility genes(6). We therefore proposed that MITF might have a role in conferring a genetic predisposition to co-occurring melanoma and RCC. Here we identify a germline missense substitution in MITF (Mi-E318K) that occurred at a significantly higher frequency in genetically enriched patients affected with melanoma, RCC or both cancers, when compared with controls. Overall, Mi-E318K carriers had a higher than fivefold increased risk of developing melanoma, RCC or both cancers. Codon 318 is located in a small-ubiquitin-like modifier (SUMO) consensus site (Psi KXE) and Mi-E318K severely impaired SUMOylation of MITF. Mi-E318K enhanced MITF protein binding to the HIF1A promoter and increased its transcriptional activity compared to wild-type MITF. Further, we observed a global increase in Mi-E318K occupied loci. In an RCC cell line, gene expression profiling identified a Mi-E318K signature related to cell growth, proliferation and inflammation. Lastly, the mutant protein enhanced melanocytic and renal cell clonogenicity, migration and invasion, consistent with a gain-of-function role in tumorigenesis. Our data provide insights into the link between SUMOylation, transcription and cancer.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Kirurgi0 (SwePub)302122 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Surgery0 (SwePub)302122 hsv//eng
7001 a Lesueur, Fabienne4 aut
7001 a Giuliano, Sandy4 aut
7001 a Strub, Thomas4 aut
7001 a de Lichy, Mahaut4 aut
7001 a Bille, Karine4 aut
7001 a Dessen, Philippe4 aut
7001 a d'Hayer, Benoit4 aut
7001 a Mohamdi, Hamida4 aut
7001 a Remenieras, Audrey4 aut
7001 a Maubec, Eve4 aut
7001 a de la Fouchardiere, Arnaud4 aut
7001 a Molinie, Vincent4 aut
7001 a Vabres, Pierre4 aut
7001 a Dalle, Stephane4 aut
7001 a Poulalhon, Nicolas4 aut
7001 a Martin-Denavit, Tanguy4 aut
7001 a Thomas, Luc4 aut
7001 a Andry-Benzaquen, Pascale4 aut
7001 a Dupin, Nicolas4 aut
7001 a Boitier, Francoise4 aut
7001 a Rossi, Annick4 aut
7001 a Perrot, Jean-Luc4 aut
7001 a Labeille, Bruno4 aut
7001 a Robert, Caroline4 aut
7001 a Escudier, Bernard4 aut
7001 a Caron, Olivier4 aut
7001 a Brugieres, Laurence4 aut
7001 a Saule, Simon4 aut
7001 a Gardie, Betty4 aut
7001 a Gad, Sophie4 aut
7001 a Richard, Stephane4 aut
7001 a Couturier, Jerome4 aut
7001 a Teh, Bin Tean4 aut
7001 a Ghiorzo, Paola4 aut
7001 a Pastorino, Lorenza4 aut
7001 a Puig, Susana4 aut
7001 a Badenas, Celia4 aut
7001 a Olsson, Håkanu Lund University,Lunds universitet,Medicinsk onkologi,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Medical oncology,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)onk-hol
7001 a Ingvar, Christianu Lund University,Lunds universitet,Kirurgi, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Surgery (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)kir-cin
7001 a Rouleau, Etienne4 aut
7001 a Lidereau, Rosette4 aut
7001 a Bahadoran, Philippe4 aut
7001 a Vielh, Philippe4 aut
7001 a Corda, Eve4 aut
7001 a Blanche, Helene4 aut
7001 a Zelenika, Diana4 aut
7001 a Galan, Pilar4 aut
7001 a Chaudru, Valerie4 aut
7001 a Lenoir, Gilbert M.4 aut
7001 a Lathrop, Mark4 aut
7001 a Davidson, Irwin4 aut
7001 a Avril, Marie-Francoise4 aut
7001 a Demenais, Florence4 aut
7001 a Ballotti, Robert4 aut
7001 a Bressac-de Paillerets, Brigitte4 aut
7102 a Medicinsk onkologib Sektion I4 org
7730 t Natured : Springer Science and Business Media LLCg 480:7375, s. 94-98q 480:7375<94-98x 0028-0836x 1476-4687
8564 u http://dx.doi.org/10.1038/nature10539y FULLTEXT
8564 8u https://lup.lub.lu.se/record/2291617
8564 8u https://doi.org/10.1038/nature10539

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