Figure 2

Mutations disrupt the coding sequence of EPPK1 in cetaceans. (A) Alignment of partial nucleotide sequences of human, dolphin (Tursiops truncatus) and blue whale (Balaenoptera musculus) EPPK1. The translation of the coding sequence of human EPPK1 is shown above the nucleotide sequences. Red fonts indicate sequence identity in all 3 species. Dashes were added to optimize the alignment. Frameshift mutations are indicated by grey shading. A black asterisk indicates a frame-shift mutation that is conserved in dolphin and whale. (B) Alignment of amino acid sequences of the amino-terminal segment of human epiplakin (until the end of the first plakin repeat domain) and the translation products of dolphin (Tursiops truncatus) and blue whale (Balaenoptera musculus) EPPK1. The end of the sequence due to a stop codon is indicated by a white asterisk on black background. The plakin repeat domain 1 of human epiplakin is underlined. Red fonts indicate identity of residues in three species and blue fonts indicate conservation in two species. (C) Alignment of EPPK1 nucleotide sequences flanking a frame-shift mutation that is conserved in cetaceans [marked by the black asterisk in panel (A)]. Nucleotide sequences of homologous segments of EPPK1 from human, cattle, hippo and 11 species of cetaceans were aligned. Red fonts indicate sequence identity in all species. The translation of the human coding sequence is shown above the nucleotide sequences.