In Drosophila, the phenotypes produced by haplo-insufficiency of genes encoding ribosomal proteins include heart defects; this is observed for some, but not all, ribosomal protein genes: RpL36, RpS15Aa, RpS5a, RpL7A, RpLP1, RpS21, RpL40, RpS13, RpL27A, RpS26, RpL5, RpS17, RpS29, RpS25, RpS3, RpS3A, mRpS33. With the exception of the sole mitochondrial ribosomal protein gene, heart phenotypes are associated with the subset of ribosomal genes for which a Minute phenotype is observed in hemizygous animals. In human, some of the orthologous genes are implicated in Diamond-Blackfan anemia (for example, MIM:613309, MIM:603634).
Most Minutes in Drosophila correspond to mutations in ribosomal protein genes, however, animals hemizygous for eIF2α, a translation initiation factor gene, exhibit the Minute phenotype. These animals also exhibit heart function abnormalities. The orthologous gene in human is EIF2S1.
[updated Jan. 2020 by FlyBase; FBrf0222196]
Cardiomyopathy refers to diseases of the heart muscle. The heart muscle becomes enlarged; it may become thick and more rigid or it may stretch and become thinner. As the condition worsens, the heart becomes weaker and less able to pump blood through the body and maintain a normal electrical rhythm. The result can be heart failure or irregular heartbeats (arrhythmias). The main types of cardiomyopathy are: (1) dilated cardiomyopathy, (2) hypertrophic cardiomyopathy, (3) restrictive cardiomyopathy and (4) arrhythmogenic right ventricular dysplasia. (http://www.heart.org/HEARTORG/Conditions/More/Cardiomyopathy/What-Is-Cardiomyopathy-in-Adults_UCM_444168_Article.jsp#.WLSbuiHysUE)
In mammals, there are about 80 ribosomal proteins that are structural components of the ribosome. Ribosome biogenesis is a complex and energy intensive process that involves several hundred factors. A growing yeast cell synthesizes approximately 2000 ribosomes every minute, requiring 60% of total cellular transcription. In mammalian cells, this number is even higher; for example, a HeLa cell makes 7500 ribosomal subunits per minute (Freed et al., 2010; pubmed:20174677).
EIF2S1 encodes a component of translation initiation factor EIF2, which catalyzes the first regulated step of protein synthesis initiation, promoting the binding of the initiator tRNA to 40S ribosomal subunits. [Gene Cards, EIF2S1; 2020.01.22]
High scoring ortholog of human RPL36 (1 Drosophila to 1 human).
High scoring ortholog of human RPS15A (2 Drosophila to 1 human).
High scoring ortholog of human RPS5 (2 Drosophila to 1 human).
High scoring ortholog of human RPL7A (1 Drosophila to 1 human).
High scoring ortholog of human RPLP1 (1 Drosophila to 1 human).
High scoring ortholog of human RPS21 (1 Drosophila to 1 human).
High scoring ortholog of human RPL40 (1 Drosophila to 1 human).
High scoring ortholog of human RPS13 (1 Drosophila to 1 human).
High scoring ortholog of human RPL27A (1 Drosophila to 1 human).
High scoring ortholog of human RPS26 (1 Drosophila to 1 human).
High scoring ortholog of human RPL5 (1 Drosophila to 1 human).
High scoring ortholog of human RPS17 (1 Drosophila to 1 human).
High scoring ortholog of human RPS29 (1 Drosophila to 1 human).
High scoring ortholog of human RPS25 (1 Drosophila to 1 human).
High scoring ortholog of human RPS3 (1 Drosophila to 1 human).
High scoring ortholog of human RPS3A (1 Drosophila to 1 human).
High scoring ortholog of human MRPS33 (1 Drosophila to 1 human).
High scoring ortholog of human EIF2S1 (1 Drosophila to 1 human).
