UAM_Biblioteca | Unified search engine | Scientific Production Portal | UAM Research Data Repository
Universidad Autónoma de Madrid
Biblos-e Archivo
We are onFacebookCanal BiblosYouTubeTwitterPinterestWhatsappInstagram
    • español
    • English
  • English 
    • español
    • English
  • Log in
JavaScript is disabled for your browser. Some features of this site may not work without it.

Search Biblos-e Archivo

Advanced Search

Browse

All of Biblos-e ArchivoCommunities & CollectionsBy Issue DateAuthorsTitlesSubjectsFacultiesThis CollectionBy Issue DateAuthorsTitlesSubjectsFaculties

My Account

Log inRegister

Statistics

View Usage Statistics

Help

Information about Biblos-e ArchivoI want to submit my workI want to submit my doctoral thesisFrequently Asked QuestionsCopyrightsFinancial Agencies and OA policy

UAM_Biblioteca

View Item 
  •   Biblos-e Archivo
  • 1 - Producción científica en acceso abierto de la UAM
  • Producción científica en acceso abierto de la UAM
  • View Item
  •   Biblos-e Archivo
  • 1 - Producción científica en acceso abierto de la UAM
  • Producción científica en acceso abierto de la UAM
  • View Item

A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families

Author
Calvete, Oriol; Martinez, Paula; Garcia-Pavia, Pablo; Benitez-Buelga, Carlos; Paumard Hernández, Beatriz; Fernandez, Victoria; Dominguez, Fernando; Salas, Clara; Romero-Laorden, Nuria; Garcia-Donas, Jesus; Carrillo, Jaime; Perona, Rosario; Trivinõ, Juan Carlos; Andrés, Raquel; Cano, Juana Mariá; Rivera, Bárbara; Alonso-Pulpón, Luis A.; Setien, Fernando; Esteller, Manel; Rodriguez-Perales, Sandra; Bougeard, Gaelle; Frebourg, Tierry; Urioste, Miguel; Blasco, Maria A.; Benítez, Javier
Entity
UAM. Departamento de Medicina
Publisher
Nature Publishing Group
Date
2015-09-25
Citation
10.1038/ncomms9383
Nature Communications 6 (2015): Article 8383
 
 
 
ISSN
2041-1723
DOI
10.1038/ncomms9383
Funded by
We are grateful to T. de Lange (The Rockefeller University) and K. Collins (The University of California) for providing POT1 and TPP1 plasmids, respectively. J.B.’s laboratory is partially funded by the Spanish Ministry of Health PI12/00070, the Spanish Ministry of Science and Innovation (INNPRONTA 2012) and the Spanish Research Network on Rare diseases (CIBERER). O.C. is granted by the CIBERER and C.B.-B. by the PI12/00070 supported by FEDER funds. P.G.-P. is partially supported by the Spanish Ministry of Health PI11/0699, PI12/01941 and RD12/0042/0066. M.A.B.’s laboratory is funded with the Spanish Ministry of Science and Innovation, projects SAF2008-05384 and 2007-A-200950 (TELOMARKER), European Research Council Advanced grant GA#232854, the Körber Foundation, Fundación Botín and Fundación Lilly. R.P.’ lab is partially funded by PI11/0949 Supported by FEDER funds
Project
Gobierno de España. PI12/00070; Gobierno de España. PI11/0699; Gobierno de España. PI12/01941; Gobierno de España. SAF2008-05384; Gobierno de España. 2007-A-200950 TELOMARKER; info:eu-repo/grantAgreement/EC/FP7/232854
Editor's Version
http://dx.doi.org/10.1038/ncomms9383
Subjects
Cardiac angiosarcoma; Mutation in a breast; Telomeres; Medicina
URI
http://hdl.handle.net/10486/672233
Rights
© 2015 Macmillan Publishers Limited

Licencia Creative Commons
Esta obra está bajo una Licencia Creative Commons Atribución 4.0 Internacional.

Abstract

Cardiac angiosarcoma (CAS) is a rare malignant tumour whose genetic basis is unknown. Here we show, by whole-exome sequencing of a TP53-negative Li–Fraumeni-like (LFL) family including CAS cases, that a missense variant (p.R117C) in POT1 (protection of telomeres 1) gene is responsible for CAS. The same gene alteration is found in two other LFL families with CAS, supporting the causal effect of the identified mutation. We extend the analysis to TP53-negative LFL families with no CAS and find the same mutation in a breast AS family. The mutation is recently found once in 121,324 studied alleles in ExAC server but it is not described in any other database or found in 1,520 Spanish controls. In silico structural analysis suggests how the mutation disrupts POT1 structure. Functional and in vitro studies demonstrate that carriers of the mutation show reduced telomere-bound POT1 levels, abnormally long telomeres and increased telomere fragility
Show full item record

Files in this item

Thumbnail
Name
mutation_calvete_NC_2015.pdf
Size
1.907Mb
Format
PDF

Refworks Export

Delicious Save this on Delicious

Google™ Scholar:Calvete, Oriol - Martinez, Paula - Garcia-Pavia, Pablo - Benitez-Buelga, Carlos - Paumard Hernández, Beatriz - Fernandez, Victoria - Dominguez, Fernando - Salas, Clara - Romero-Laorden, Nuria - Garcia-Donas, Jesus - Carrillo, Jaime - Perona, Rosario - Trivinõ, Juan Carlos - Andrés, Raquel - Cano, Juana Mariá - Rivera, Bárbara - Alonso-Pulpón, Luis A. - Setien, Fernando - Esteller, Manel - Rodriguez-Perales, Sandra - Bougeard, Gaelle - Frebourg, Tierry - Urioste, Miguel - Blasco, Maria A. - Benítez, Javier

This item appears in the following Collection(s)

  • Producción científica en acceso abierto de la UAM [15094]

Related items

Showing items related by title, author, creator and subject.

  • Severe cardiac dysfunction and death caused by arrhythmogenic right ventricular cardiomyopathy type 5 are improved by Inhibition of glycogen synthase kinase-3β 

    Padrón-Barthe, Laura; Villalba-Orero, María; Gómez-Salinero, Jesús; Domínguez, Fernando; Román, Marta; Larrasa-Alonso, Javier; Ortiz-Sánchez, Paula; Martínez, Fernando; López-Olañeta, Marina; Bonzón-Kulichenko, Elena; Vázquez, Jesús; Martí-Gómez, Carlos; Santiago, Demetrio J.; Prados, Belén; Giovinazzo, Giovanna; Gómez-Gaviro, María Victoria; Priori, Silvia; Garcia-Pavia, Pablo; Lara-Pezzi, Enrique
    2019-09-05
  • Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy 

    Salazar-Mendiguchiá, Joel; Ochoa, Juan Pablo; Palomino-Doza, Julian; Domínguez, Fernando; Diéz-López, Carles; Akhtar, Mohammed; Ramiro-León, Soraya; Clemente, Mariá M.; Pérez-Cejas, Antonia; Robledo, Mariá; Gómez-Diáz, Iria; Peña-Peña, Mariá Luisa; Climent, Vicente; Salmerón-Martínez, Francisco; Hernández, Celestino; Garciá-Granja, Pablo E.; Mogollón, M. Victoria; Cárdenas-Reyes, Ivonne; Cicerchia, Marcos; Garciá-Giustiniani, Diego; Lamounier, Arsonval; Gil-Fournier, Belén; Diáz-Flores, Felícitas; Salguero, Rafael; Santomé, Luis; Syrris, Petros; Olivé, Montse; Garciá-Paviá, Pablo; Ortiz-Genga, Martín; Elliott, Perry M.; Monserrat, Lorenzo; Behalf of GENESCOPIC Research Group
    2020-09-01
  • Genome-wide linkage analysis of congenital heart defects using MOD score analysis identifies two novel loci 

    Flaquer, Antònia; Baumbach, Clemens; Piñero, Estefanía; García Algas, Fernando; De La Fuente Sánchez, María A.; Rosell, Jordi; Toquero, Jorge; Alonso-Pulpón, Luis A.; García-Pavía, Pablo; Strauch, Konstantin; Heine-Suñer, Damián
    2013-05-24
All the documents from Biblos-e Archivo are protected by copyrights. Some rights reserved.
Universidad Autónoma de Madrid. Biblioteca
Contact Us | Send Feedback
We are onFacebookCanal BiblosYouTubeTwitterPinterestWhatsappInstagram
 

 

All the documents from Biblos-e Archivo are protected by copyrights. Some rights reserved.
Universidad Autónoma de Madrid. Biblioteca
Contact Us | Send Feedback
We are onFacebookCanal BiblosYouTubeTwitterPinterestWhatsappInstagram