Myosin XVA, expressed at the tips of stereocilia in the cochlea hair cells, is essential for the function of mechanotransduction apparatus , which is proved by a myosin XVA-deficient mouse model study .
A 3D simulative structure (PDB ID:1g8xA) of MYO15A motor domain was built, which contained the myosin XVA protein residues 1261-1887.
MYO15A gene consisting of 66 exons encodes a protein myosin XVA with 3530 amino acid.
Our finding revealed that the variants p.A1324D and p.Q1337Qfs*22 are located at myosin XVA motor domain.
It is a splicing-site mutation resulting in a G to A transition at the donor site and is predicted to locate between the junctional region of the posterior MyTH4 domain and the FERM domain in myosin XVA. Similarly to the myosin VIIA MyTH4-FERM domain, this region is important for the localization to the stereocilia tips [25, 26], which is essential for the normal function of the stereocilia tips.
Friedman, "Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle," Proceedings of the National Academy of Sciences of the United States of America, vol.