doi: 10.1016/j.str.2004.03.024.
The structure of the N-terminal domain of the product of the lissencephaly gene Lis1 and its functional implications
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- PMID:15274919
- DOI: 10.1016/j.str.2004.03.024
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The structure of the N-terminal domain of the product of the lissencephaly gene Lis1 and its functional implications
Myung Hee Kim et al. Structure.2004 Jun.
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Abstract
Mutations in the Lis1 gene result in lissencephaly (smooth brain), a debilitating developmental syndrome caused by the impaired ability of postmitotic neurons to migrate to their correct destination in the cerebral cortex. Sequence similarities suggest that the LIS1 protein contains a C-terminal seven-blade beta-propeller domain, while the structure of the N-terminal fragment includes the LisH (Lis-homology) motif, a pattern found in over 100 eukaryotic proteins with a hitherto unknown function. We present the 1.75 A resolution crystal structure of the N-terminal domain of mouse LIS1, and we show that the LisH motif is a novel, thermodynamically very stable dimerization domain. The structure explains the molecular basis of a low severity form of lissencephaly.
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