Comprehensive mutagenesis defines the functional landscape of human α-tubulin

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Authors: Kaiming Xu, Zhengyang Guo, Z Chen, Zi-Han Chen, Ming Li, Zongxian Chen, Zongxian Chen, Deyang Zhang, Yang Wang, Yongping Chai, Jinxiang Zhang, Hui Wang
+3 more Dong Li, Wei Li, Guangshuo Ou
Cited by: 1
References: 87

Abstract

Interpreting missense variants in highly conserved, paralog-rich gene families remains a major barrier to understanding protein function and advancing precision medicine. Here, we combine comprehensive mutagenesis, high-content live-cell imaging, and automated quantitative analysis to generate a complete functional atlas of all 2,683 single-nucleotide coding variants in human α-tubulin TUBA1A. Systematic profiling of microtubule assembly revealed distinct classes of mutations that disrupt folding, chaperone engagement, and protofilament geometry, defining structural constraints that govern tubulin function. This approach complements conservation-based predictors and enables functional reinterpretation of disease-associated variants. Molecular dynamics simulations further revealed how local perturbations in GTP (guanosine triphosphate) binding, dimer contacts, and lateral interfaces propagate to alter filament architecture. Integrating these datasets produced a predictive framework that generalizes across tubulin isotypes and species, enabling accurate inference of variant effects. This work establishes a scalable, high-resolution strategy for functional annotation of conserved proteins and provides mechanistic insight into cytoskeletal assembly and flexibility.

Fields of Study & Subjects

Microtubule and mitosis dynamics Genomics and Rare Diseases Protein Structure and Dynamics

Publication details

Journal / source
Proceedings of the National Academy of Sciences
Publisher
National Academy of Sciences
Volume
123
Issue
22
Pages
e2600822123–e2600822123
Publication date
29 May 2026
Language
EN