Comprehensive mutagenesis defines the functional landscape of human α-tubulin

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.

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Publication Details

Journal
Proceedings of the National Academy of Sciences
Published
2026-05-29
DOI
https://doi.org/10.1073/pnas.2600822123
Primary Topic
Microtubule and mitosis dynamics
Type
article
Field-Weighted Citation Impact
0.00

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article

Comprehensive mutagenesis defines the functional landscape of human α-tubulin

Deyang Zhang, Weiwei Li, Jinxiang Zhang, Z Chen et al.
Proceedings of the National Academy of Sciences
Microtubule and mitosis dynamics
article

Comprehensive mutagenesis defines the functional landscape of human α-tubulin

Deyang Zhang, Weiwei Li, Jinxiang Zhang, Z Chen, Hui Wang, Dong Li, Yang Wang, Ming Li, Kaiming Xu, Yongping Chai, Zhengyang Guo, Guangshuo Ou
article en

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.

Proceedings of the National Academy of SciencesVol. 123(22)
King Center (US), Wuhan Union Hospital (CN), Center for Life Sciences (CN), Union Hospital (CN), Huazhong University of Science and Technology (CN), Tsinghua University (CN)
National Natural Science Foundation of China, National Key Research and Development Program of China
Life in Land
Openalex Percentile: Top 8%
Microtubule and mitosis dynamics
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