Fig. 6

TUBA4A mutations cause microtubule destabilization. a Structural implications of TUBA4A amino acid substitutions. Structure of two consecutive α/ß tubulin heterodimers. Predicted wild-type structure of TUBA4A was shown in yellow and aligned to known tubulin structure (PDB code, 3JAS). Mutant residues in α tubulin are marked in red. b Examples of cells expressing the various FLAG-tagged TUBA4A plasmids, with microtubules assembled into a normal or abnormal interphase network. The scale bar indicates 10 μm. c Quantitative analysis of the microtubule phenotypes shown in b. Low expression of mutant TUBA4A was typically associated with normal phenotypes, whereas intermediated and high expression of mutant TUBA4A was typically associated with abnormal phenotypes. Approximately 200 transfected cells expressing either wild-type or mutant TUBA4A were evaluated in each of two separate experiments