Fig. 1.

Species-specific splicing patterns and comparative sequence alignment of OTC exon 4 sequences. A Schematic representation of the OTC pre-mRNA focused on exon 4, with exons and introns indicated by boxes and lines, and of the alternative splicing events triggered by the c.386G>A mutation in the human and mouse context. Asterisks indicate cryptic 5′ss. B Multiple sequences alignment of the OTC exon 4 5′ss and the downstream region. The human sequence has been used as reference. Dots represents conserved nucleotide. The human and mouse sequences are included within red boxes. Exon 4 and nucleotides at position +10-11 are included within green and blue boxes, respectively. The cryptic 5′ss is highlighted by the yellow box. The phylogenetic tree, together with years (millions of years, MYA) of species separation, is reported on the left. Colors indicate the type of nucleotide couple at position +10-11