Extended Data Fig. 11: Further characterization of the identified nonsense mutations identified in the profiled lemurs.
From: Mouse lemur cell atlas informs primate genes, physiology and disease
a-d. Gene schematic (a), bar plot (b) and dot plot (c) of gene expression, and model of NMD regulation of the gene’s expression (d) as in Fig. 5c–n but for CLEC4E, a fourth gene with a nonsense mutation identified in a lemur in the atlas (L4). CLEC4E is an innate immune regulator expressed in neutrophils and monocytes. (c) N cell types = 19, 6 for wildtype and mutant, respectively. e. Length of preserved and C-terminus depleted portion of the mutant protein predicted for the four characterized genes with a nonsense mutation, based on the position of the nonsense mutation in the gene. Numbers at right of bar indicate the total length of the protein (black) and the percent of the depleted portion (red). f. Percent of transcript reads that cover the mutation position among all transcripts reads that align to the corresponding gene in the affected individual (10x). g. Dot plot showing mean expression of the four characterized genes across 63 orthologous cell types in human, lemur, and mouse1. Rows are orthologous genes, indicated by their respective human gene symbols. *, lemur homologue for human gene PYHN1 is LOC105864482. Columns are cell types, displayed as trios of dots showing the respective expression, from left to right, in human, lemur, and mouse. Red cross, gene missing in mouse genome.
