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Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.

Abdollahi, Mohammad R; Morrison, Ewan; Sirey, Tamara; Molnar, Zoltan; Hayward, Bruce E; Carr, Ian M; Springell, Kelly; Woods, C Geoff; Ahmed, Mushtaq; Hattingh, Louise; Corry, Peter; Pilz, Daniela T; Stoodley, Neil; Crow, Yanick; Taylor, Graham R; Bonthron, David T; Sheridan, Eamonn

American journal of human genetics. 2009;85(5):737-44.

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Abstract

The critical importance of cytoskeletal function for correct neuronal migration during development of the cerebral cortex has been underscored by the identities of germline mutations underlying a number of human neurodevelopmental disorders. The proteins affected include TUBA1A, a major alpha-tubulin isoform, and microtubule-associated components such as doublecortin, and LIS1. Mutations in these genes are associated with the anatomical abnormality lissencephaly, which is believed to reflect failure of neuronal migration. An important recent observation has been the dependence of cortical neuronal migration upon acetylation of alpha-tubulin at lysine 40 by the histone acetyltransferase Elongator complex. Here, we describe a recognizable autosomal recessive syndrome, characterized by generalized polymicrogyria in association with optic nerve hypoplasia (PMGOH). By autozygosity mapping, we show that the molecular basis for this condition is mutation of the TUBA8 gene, encoding a variant alpha-tubulin of unknown function that is not susceptible to the lysine 40 acetylation that regulates microtubule function during cortical neuron migration. Together with the unique expression pattern of TUBA8 within the developing cerebral cortex, these observations suggest a role for this atypical microtubule component in regulating mammalian brain development.

Bibliographic metadata

Content type:
Published date:
Language:
eng
Abbreviated journal title:
ISSN:
Place of publication:
United States
Volume:
85
Issue:
5
Pagination:
737-44
Digital Object Identifier:
10.1016/j.ajhg.2009.10.007
Pubmed Identifier:
19896110
Pii Identifier:
S0002-9297(09)00462-5
Access state:
Active

Institutional metadata

University researcher(s):

Record metadata

Manchester eScholar ID:
uk-ac-man-scw:77868
Created by:
Crow, Yanick
Created:
17th March, 2010, 17:25:06
Last modified by:
Crow, Yanick
Last modified:
17th March, 2010, 17:25:06

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