Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathy

Abstract

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.

The Rat Genome Database (RGD) facilitates genomic and phenotypic data integration across multiple species for biomedical research

“…Extensive breed diversification makes Canis lupus familiaris (dog) an excellent research model for a wide variety of disorders such as heart disease, cancer, and diabetes (Karlsson and Lindblad-Toh 2008;Davis and Ostrander 2014), and the species has an array of breeds that have been sequenced, which provides comprehensive genomic variation information (Plassais et al 2019). Pan paniscus (bonobo) spontaneously develops a number of human disease conditions including hypertension and cardiomyopathies (Lowenstine et al 2016;Strong et al 2016;Celestino-Soper et al 2018). Although most commonly thought of as agricultural, Sus scrofa (pig) is also a model for studies of cardiovascular disease, skin conditions, brain physiology and function, surgical procedures, and the microbiome (Ploug et al 2008;Samulin et al 2009;Tsang et al 2016;Warr et al 2020).…”