Fig. 3.

Impact of AMH-specific RIs. a-b Annotation of the genomic location and distribution in present-day populations of the AluYa5 insertion on chr16q22.1. The insertion is highlighted in red in a; in b, for each diagram, a darker color indicates the presence of the RI and a lighter one its absence. c-d Annotation of the genomic location and distribution in present-day populations of the AluYg6 insertion on chr1q25.3. In c, the insertion is highlighted in red and a yellow rectangle highlights an alternative transcript that terminates precisely at the poly-A tail of the RI; in d, for each diagram, a darker color indicates the presence of the RI and a lighter one its absence. e-f Annotation of the genomic location and distribution in present-day populations of the AluYb9 insertion on chr10q25.3. In e, the insertion is highlighted in red and yellow rectangles highlight annotated alternatively-spliced products for the gene in which the insertion occurred; in f, for each diagram, a darker color indicates the presence of the RI and a lighter one its absence. g Splicing prediction in the sequence corresponding to filed allele (top, containing the intron and the AluYb9 insertion on chr10q25.3) and in the sequence corresponding to the empty allele (bottom, containing just the intron). The sequence is oriented in the same transcriptional sense orientation of the gene, black dotted lines highlight the position of the RI. Pink and red lines represent Splicing Enhancer Matrices, green and blue ones Splicing Silencing Matrices; ochre lines represent the combined strength of Enhancer/Silencing Matrices on the sequence. Arrows highlight silencing signal peaks that occur precisely in the RI sequence