RGD Reference Report - Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. - Rat Genome Database

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Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.

Authors: Jaglin, XH  Poirier, K  Saillour, Y  Buhler, E  Tian, G  Bahi-Buisson, N  Fallet-Bianco, C  Phan-Dinh-Tuy, F  Kong, XP  Bomont, P  Castelnau-Ptakhine, L  Odent, S  Loget, P  Kossorotoff, M  Snoeck, I  Plessis, G  Parent, P  Beldjord, C  Cardoso, C  Represa, A  Flint, J  Keays, DA  Cowan, NJ  Chelly, J 
Citation: Jaglin XH, etal., Nat Genet. 2009 Jun;41(6):746-52. doi: 10.1038/ng.380. Epub 2009 May 24.
RGD ID: 8554405
Pubmed: PMID:19465910   (View Abstract at PubMed)
PMCID: PMC2883584   (View Article at PubMed Central)
DOI: DOI:10.1038/ng.380   (Journal Full-text)

Polymicrogyria is a relatively common but poorly understood defect of cortical development characterized by numerous small gyri and a thick disorganized cortical plate lacking normal lamination. Here we report de novo mutations in a beta-tubulin gene, TUBB2B, in four individuals and a 27-gestational-week fetus with bilateral asymmetrical polymicrogyria. Neuropathological examination of the fetus revealed an absence of cortical lamination associated with the presence of ectopic neuronal cells in the white matter and in the leptomeningeal spaces due to breaches in the pial basement membrane. In utero RNAi-based inactivation demonstrates that TUBB2B is required for neuronal migration. We also show that two disease-associated mutations lead to impaired formation of tubulin heterodimers. These observations, together with previous data, show that disruption of microtubule-based processes underlies a large spectrum of neuronal migration disorders that includes not only lissencephaly and pachygyria, but also polymicrogyria malformations.

Gene Ontology Annotations    Click to see Annotation Detail View

Biological Process
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
neuron migration involved_inIMP 8554405PMID:19465910UniProt 

Objects Annotated

Genes (Rattus norvegicus)
Tubb2b  (tubulin, beta 2B class IIb)


Additional Information