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- W2912101143 abstract "Malformations of the human cerebral cortex can be caused by mutations in tubulins that associate to compose microtubules. Cerebral cortical folding relies on neuronal migration and on progenitor proliferation partly dictated by microtubule-dependent mitotic spindle positioning. A single amino acid change, F265L, in the conserved TUBB2B β-tubulin gene has been identified in patients with abnormal cortex formation. A caveat for studying this mutation in mammalian cells is that nine genes encode β-tubulin in human. Here, we generate a yeast strain expressing F265L tubulin mutant as the sole source of β-tubulin. The F265L mutation does not preclude expression of a stable β-tubulin protein which is incorporated into microtubules. However, impaired cell growth was observed at high temperatures along with altered microtubule dynamics and stability. In addition, F265L mutation produces a highly specific mitotic spindle positioning defect related to Bim1 (yeast EB1) dysfunction. Indeed, F265L cells display an abnormal Bim1 recruitment profile at microtubule +ends. These results indicate that the F265L β-tubulin mutation affects microtubule +end complexes known to be important for microtubule dynamics and for microtubule function during mitotic spindle positioning." @default.
- W2912101143 created "2019-02-21" @default.
- W2912101143 creator A5012328383 @default.
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- W2912101143 date "2019-01-01" @default.
- W2912101143 modified "2023-10-12" @default.
- W2912101143 title "A neurodevelopmental TUBB2B β-tubulin mutation impairs Bim1 (yeast EB1)-dependent spindle positioning" @default.
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- W2912101143 doi "https://doi.org/10.1242/bio.038620" @default.
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