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J. Dev. Biol. 2017, 5(3), 8; https://doi.org/10.3390/jdb5030008

The α-Tubulin gene TUBA1A in Brain Development: A Key Ingredient in the Neuronal Isotype Blend

1
Department of Cell and Developmental Biology, University of Colorado School of Medicine, MS8108, 12801 E 17th Ave, Aurora, CO 80045, USA
2
Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA
*
Author to whom correspondence should be addressed.
Received: 1 September 2017 / Revised: 13 September 2017 / Accepted: 18 September 2017 / Published: 19 September 2017
(This article belongs to the Special Issue Development of the Brain in Health and Disease)
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Abstract

Microtubules are dynamic cytoskeletal polymers that mediate numerous, essential functions such as axon and dendrite growth and neuron migration throughout brain development. In recent years, sequencing has revealed dominant mutations that disrupt the tubulin protein building blocks of microtubules. These tubulin mutations lead to a spectrum of devastating brain malformations, complex neurological and physical phenotypes, and even fatality. The most common tubulin gene mutated is the α-tubulin gene TUBA1A, which is the most prevalent α-tubulin gene expressed in post-mitotic neurons. The normal role of TUBA1A during neuronal maturation, and how mutations alter its function to produce the phenotypes observed in patients, remains unclear. This review synthesizes current knowledge of TUBA1A function and expression during brain development, and the brain malformations caused by mutations in TUBA1A. View Full-Text
Keywords: TUBA1A; tubulinopathy; microtubule; neurodevelopment; lissencephaly; polymicrogyria TUBA1A; tubulinopathy; microtubule; neurodevelopment; lissencephaly; polymicrogyria
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Aiken, J.; Buscaglia, G.; Bates, E.A.; Moore, J.K. The α-Tubulin gene TUBA1A in Brain Development: A Key Ingredient in the Neuronal Isotype Blend. J. Dev. Biol. 2017, 5, 8.

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