Figure 3

Alternative splicing at the PIGH locus and private c211-10C > G intronic variation. A. Screen capture of an IGV output from liver RNASeq data of a heterozygote mutant embryo aligned on the bovine genomic reference sequence at the PIGH locus (top). The four exons appear as stacks of grey reads and splicing is schematically denoted by thin blue lines. Complete skipping of PIGH exon 2 in ~ half of the transcripts is noticeable (red versus blue arrow height). PIGH intron/exon annotation and the two alternative splicing events are represented by dashed red (skipped exon 2) and blue (incorporated) lines. B. Screen capture of an IGV output displaying (i) on the positive strand (top, 5′ to 3′), a private G to C mutation (blue) from genomic DNA sequence reads of four pooled homozygous cases, (ii) on the negative strand (bottom, 3′ to 5′), PIGH intron 1/exon 2 annotation showing the private mutation position at −10 nucleotide in the splice acceptor sequence (c211-10C > G, red bar).