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

Solís Moruno, Manuel, 1993-de Manuel, MarcHernández Rodríguez, Jéssica, 1983-Fontseré Alemany, Clàudia, 1992-Gomara Castaño, AlbaValsera-Naranjo, CristinaCrailsheim, DietmarNavarro i Cuartiellas, Arcadi, 1969-Llorente, MiquelRiera, LauraFeliu Olleta, OlgaMarquès i Bonet, Tomàs, 1975-2018-04-052018-04-052017Solis-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-w2045-2322http://hdl.handle.net/10230/34292The 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.application/pdfeng© 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/.Potential damaging mutation in LRP5 from genome sequencing of the first reported chimpanzee with the Chiari malformationinfo:eu-repo/semantics/articlehttp://dx.doi.org/10.1038/s41598-017-15544-wGenome sequencingGenetics researchMutationinfo:eu-repo/semantics/openAccess