{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T17:52:53Z","timestamp":1790617973022,"version":"4.1.0"},"reference-count":126,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2020,11,27]],"date-time":"2020-11-27T00:00:00Z","timestamp":1606435200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,3,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>In cats, mutations in myosin binding protein C (encoded by the MYBPC3 gene) have been associated with hypertrophic cardiomyopathy (HCM). However, the molecular mechanisms linking these mutations to HCM remain unknown. Here, we establish Drosophila melanogaster as a model to understand this connection by generating flies harboring MYBPC3 missense mutations (A31P and R820W) associated with feline HCM. The A31P and R820W flies displayed cardiovascular defects in their heart rates and exercise endurance. We used RNA-seq to determine which processes are misregulated in the presence of mutant MYBPC3 alleles. Transcriptome analysis revealed significant downregulation of genes encoding small nucleolar RNA (snoRNAs) in exercised female flies harboring the mutant alleles compared to flies that harbor the wild-type allele. Other processes that were affected included the unfolded protein response and immune\/defense responses. These data show that mutant MYBPC3 proteins have widespread effects on the transcriptome of co-regulated genes. Transcriptionally differentially expressed genes are also candidate genes for future evaluation as genetic modifiers of HCM as well as candidate genes for genotype by exercise environment interaction effects on the manifestation of HCM; in cats as well as humans.<\/jats:p>","DOI":"10.1093\/g3journal\/jkaa014","type":"journal-article","created":{"date-parts":[[2021,1,10]],"date-time":"2021-01-10T19:47:42Z","timestamp":1610308062000},"source":"Crossref","is-referenced-by-count":11,"title":["Heat shock proteins and small nucleolar RNAs are dysregulated in a Drosophila model for feline hypertrophic cardiomyopathy"],"prefix":"10.1093","volume":"11","author":[{"given":"Christian A","family":"Tallo","sequence":"first","affiliation":[{"name":"Department of Biological Sciences, North Carolina State University, Raleigh, NC 27695-7614, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura H","family":"Duncan","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, North Carolina State University, Raleigh, NC 27695-7614, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akihiko H","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"The Department of Entomology and Plant Pathology, North Carolina State University, Raleigh, NC 27695-7613, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua D","family":"Slaydon","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, North Carolina State University, Raleigh, NC 27695-7614, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gunjan H","family":"Arya","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, North Carolina State University, Raleigh, NC 27695-7614, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lavanya","family":"Turlapati","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, North Carolina State University, Raleigh, NC 27695-7614, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2312-7245","authenticated-orcid":false,"given":"Trudy F C","family":"Mackay","sequence":"additional","affiliation":[{"name":"The Center for Human Genetics and Department of Genetics and Biochemistry, Clemson University, Greenwood, SC 29646, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5086-2480","authenticated-orcid":false,"given":"Mary A","family":"Carbone","sequence":"additional","affiliation":[{"name":"The Comparative Medicine Institute, North Carolina State University, Raleigh, NC 27695, USA"},{"name":"The Center for Integrated Fungal Research and Department of Plant and Microbial Biology, North Carolina State University, Raleigh NC 27695-7244, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,11,27]]},"reference":[{"key":"2021052020404057000_jkaa014-B1","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1186\/s12915-015-0138-0","article-title":"Long-range regulatory interactions at the 4q25 atrial fibrillation risk locus involve PITX2c and ENPEP","volume":"13","author":"Aguirre","year":"2015","journal-title":"BMC Biol"},{"key":"2021052020404057000_jkaa014-B2","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1242\/dmm.023887","article-title":"Using Drosophila to discover mechanisms underlying type 2 diabetes","volume":"9","author":"Alfa","year":"2016","journal-title":"Dis Model Mech"},{"key":"2021052020404057000_jkaa014-B3","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1038\/ng1240","article-title":"The genetic architecture of odor-guided behavior in Drosophila: epistasis and the 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