Figure 6. Mutational properties of the five causative genes.

(a) Distribution of number of hits in protein-coding genes in MA lines (this study + 75 lines from Saxena et al., 2019). Throughout the figure, the left panels show cumulative length and mutations of exons only, while the right panels show the length and mutations of genes, defined as the primary transcript sequence (including exons, introns and untranslated regions). Inset focuses on genes with at least two hits, the color code indicating whether hits were found in the same or independent MA lines. Colored dots indicate the value for each causative gene of this study, which were hit only once, except sfrp-1 which was not hit in the C. elegans data set (it was found in aC. briggsae MA line). (b) Correlation between the cumulative exon length (left) and gene length (right) and the number of corresponding mutations in the Million Mutation Project (Thompson et al., 2013). (e) Correlation between the cumulative exon length (left) and gene length (right) and the corresponding number of polymorphic sites, from data from the Caenorhabditis Natural Diversity Resource (CeNDR; Cook et al., 2017). In (b,c), R is the Pearson's correlation coefficient (p-value<2.10⁻¹⁶ in all cases).

Figure 6—figure supplement 1. Mutational properties of causative genes.

(a) Distribution among protein-coding genes of their total length. The left panel shows the cumulative length of exons only, while the right panels show the length of genes, defined as the primary transcript sequence (including exons, introns and untranslated regions). Colored arrows indicate the value for each causative gene, dashed and dotted vertical line correspond to the upper 5% and 1% quantiles, respectively. (b) Distribution among protein-coding genes of cumulative repeat length in their exons or along their total length. Y75B8A.8 is a poly-Q containing protein and thus an outlier concerning repeats in exons. However, the causal mutation we found does not affect these repeats. (c) Frequencies of haplotypes in the five causative genes at CeNDR (N = 330), as a function of the number of high and moderate impact variants compared to the reference N2 sequence (predicted by snpEff, see Materials and methods). Average frequencies are given for all protein-coding genes in the lower panel.