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Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disorder that may lead to sudden death and can affect humans and other primates. In 2012, the alpha male bonobo of the Milwaukee County Zoo died suddenly and histologic evaluation found features of ARVC. This study sought to discover a poss...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Nature Publishing Group UK
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5847517/ https://www.ncbi.nlm.nih.gov/pubmed/29531232 http://dx.doi.org/10.1038/s41598-018-22334-5 |
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author | Celestino-Soper, Patrícia B. S. Lynnes, Ty C. Zhang, Lili Ouyang, Karen Wann, Samuel Clyde, Victoria L. Vatta, Matteo |
author_facet | Celestino-Soper, Patrícia B. S. Lynnes, Ty C. Zhang, Lili Ouyang, Karen Wann, Samuel Clyde, Victoria L. Vatta, Matteo |
author_sort | Celestino-Soper, Patrícia B. S. |
collection | PubMed |
description | Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disorder that may lead to sudden death and can affect humans and other primates. In 2012, the alpha male bonobo of the Milwaukee County Zoo died suddenly and histologic evaluation found features of ARVC. This study sought to discover a possible genetic cause for ARVC in this individual. We sequenced our subject’s DNA to search for deleterious variants in genes involved in cardiovascular disorders. Variants found were annotated according to the human genome, following currently available classification used for human diseases. Sequencing from the DNA of an unrelated unaffected bonobo was also used for prediction of pathogenicity. Twenty-four variants of uncertain clinical significance (VUSs) but no pathogenic variants were found in the proband studied. Further familial, functional, and bonobo population studies are needed to determine if any of the VUSs or a combination of the VUSs found may be associated with the clinical findings. Future genotype-phenotype establishment will be beneficial for the appropriate care of the captive zoo bonobo population world-wide as well as conservation of the bobono species in its native habitat. |
format | Online Article Text |
id | pubmed-5847517 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-58475172018-03-19 Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathy Celestino-Soper, Patrícia B. S. Lynnes, Ty C. Zhang, Lili Ouyang, Karen Wann, Samuel Clyde, Victoria L. Vatta, Matteo Sci Rep Article Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disorder that may lead to sudden death and can affect humans and other primates. In 2012, the alpha male bonobo of the Milwaukee County Zoo died suddenly and histologic evaluation found features of ARVC. This study sought to discover a possible genetic cause for ARVC in this individual. We sequenced our subject’s DNA to search for deleterious variants in genes involved in cardiovascular disorders. Variants found were annotated according to the human genome, following currently available classification used for human diseases. Sequencing from the DNA of an unrelated unaffected bonobo was also used for prediction of pathogenicity. Twenty-four variants of uncertain clinical significance (VUSs) but no pathogenic variants were found in the proband studied. Further familial, functional, and bonobo population studies are needed to determine if any of the VUSs or a combination of the VUSs found may be associated with the clinical findings. Future genotype-phenotype establishment will be beneficial for the appropriate care of the captive zoo bonobo population world-wide as well as conservation of the bobono species in its native habitat. Nature Publishing Group UK 2018-03-12 /pmc/articles/PMC5847517/ /pubmed/29531232 http://dx.doi.org/10.1038/s41598-018-22334-5 Text en © The Author(s) 2018 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/. |
spellingShingle | Article Celestino-Soper, Patrícia B. S. Lynnes, Ty C. Zhang, Lili Ouyang, Karen Wann, Samuel Clyde, Victoria L. Vatta, Matteo Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathy |
title | Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathy |
title_full | Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathy |
title_fullStr | Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathy |
title_full_unstemmed | Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathy |
title_short | Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathy |
title_sort | genetic analyses in a bonobo (pan paniscus) with arrhythmogenic right ventricular cardiomyopathy |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5847517/ https://www.ncbi.nlm.nih.gov/pubmed/29531232 http://dx.doi.org/10.1038/s41598-018-22334-5 |
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