Potential damaging mutation in LRP5 from genome sequencing of the first reported chimpanzee with the Chiari malformation

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dc.contributor.author	Solís Moruno, Manuel
dc.contributor.author	de Manuel, Marc
dc.contributor.author	Hernández Rodríguez, Jessica
dc.contributor.author	Fontsere, Claudia
dc.contributor.author	Gomara Castaño, Alba
dc.contributor.author	Valsera-Naranjo, Cristina
dc.contributor.author	Crailsheim, Dietmar
dc.contributor.author	Navarro i Cuartiellas, Arcadi, 1969-
dc.contributor.author	Llorente, Miquel
dc.contributor.author	Riera, Laura
dc.contributor.author	Feliu Olleta, Olga
dc.contributor.author	Marquès i Bonet, Tomàs, 1975-
dc.date	2017
dc.identifier.citation	Solis-Moruno M, de Manuel M, Hernandez-Rodriguez J, Fontsere C, Gomara-Castaño A, Valsera-Naranjo C et al. Potential damaging mutation in LRP5 from genome sequencing of the first reported chimpanzee with the Chiari malformation. Sci Rep. 2017 Nov 9;7(1):15224. DOI: 10.1038/s41598-017-15544-w
dc.identifier.citation	2045-2322
dc.identifier.citation	http://dx.doi.org/10.1038/s41598-017-15544-w
dc.identifier.uri	http://hdl.handle.net/10230/34292
dc.format	application/pdf
dc.language.iso	eng
dc.publisher	Nature Publishing Group
dc.relation	Sci Rep. 2017 Nov 9;7(1):15224
dc.relation	info:eu-repo/grantAgreement/ES/1PE/BFU2015-68649-P
dc.relation	info:eu-repo/grantAgreement/ES/1PE/BFU2014-55090-P
dc.rights	info:eu-repo/semantics/openAccess
dc.rights	© Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
dc.rights	http://creativecommons.org/licenses/by/4.0/
dc.subject	Genome sequencing
dc.subject	Genetics research
dc.subject	Mutation
dc.title	Potential damaging mutation in LRP5 from genome sequencing of the first reported chimpanzee with the Chiari malformation
dc.type	info:eu-repo/semantics/article
dc.type	info:eu-repo/semantics/publishedVersion
dc.description.abstract	The genus Pan is the closest related to humans (Homo sapiens) and it includes two species: Pan troglodytes (chimpanzees) and Pan paniscus (bonobos). Different characteristics, some of biomedical aspect, separate them from us. For instance, some common human medical conditions are rare in chimpanzees (menopause, Alzheimer disease) although it is unclear to which extent longevity plays an active role in these differences. However, both humans and chimpanzees present similar pathologies, thus, understanding traits in chimpanzees can help unravel the molecular basis of human conditions. Here, we sequenced the genome of Nico, a central chimpanzee diagnosed with a particular biomedical condition, the Chiari malformation. We performed a variant calling analysis comparing his genome to 25 whole genomes from healthy individuals (bonobos and chimpanzees), and after predicting the effects of the genetic variants, we looked for genes within the OMIM database. We found a novel, private, predicted as damaging mutation in Nico in LRP5, a gene related to bone density alteration pathologies, and we suggest a link between this mutation and his Chiari malformation as previously shown in humans. Our results reinforce the idea that a comparison between humans and chimpanzees can be established in this genetic frame of common diseases.
dc.description.abstract	M.S.-M. is supported by the Ministerio de Economía y Competitividad, Spain (Maria de Maetzu grant MDM-2014-0370-16-3). M.d.M. is supported by a Formació de personal Investigador fellowship from Generalitat de Catalunya (FI_B01111). J.H.-R. is supported by the Ministerio de Economía y Competitividad, Spain (FPI grant BES-2013-064333). C.F. is supported by La Caixa Foundation. A.N. is funded by MINECO BFU2015-68649-P. T.M.-B. is supported by MINECO BFU2014-55090- P (FEDER), U01 MH106874 grant, Howard Hughes International Early Career, La Caixa Foundation and Secretaria d'Universitats i Recerca del Departament d'Economia i Coneixement de la Generalitat de Catalunya.

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