Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis
Fig 3
Structures of the PLA2G6 transcript and iPLA2β protein.
a) Structure of the canine PLA2G6 gene. The PLA2G6 gene contains 16 exons with a total length of 49.03 kb. The identified mutation in this study, c.1579G>A, was located at exon 10. b) Protein structure of human and canine iPLA2β and the homology of the ankyrin-repeat domain, patatin domain, and two calmodulin-binding domains. ANK; ankyrin domain Calmod; calmodulin domain and GTSTG; lipase motif. Yellow and blue bands in human iPLA2β indicate known substitutions and deletion mutations in human INAD, respectively. The yellow band in the canine iPLA2β indicates the T526A mutation identified in this study. c) ClustalW multiple protein alignment of the region of iPLA2β containing the mutation. The target alanine is shown in the red box. Sequences for dogs (E2RPF9_CANFA), humans (PLPL9_HUMAN), mice (PLPL9_MOUSE), rats (PLPL9_RAT), cows (E1B889_BOVIN), horses (F6WG51_HORSE), cats (F6WG51_FELCA), rabbits (G1SQE9_RABIT), pigs (F1SKP4_PIG), chickens (F1NBV7_CHICK), African clawed frogs (Q6DDK0_XENLA) and zebrafish (Q6NWY0_DANRE) are shown. The target alanine lies within a region of 13 highly conserved amino acids that contains the GTSTG lipase domain.