Abnormal development of the cerebral cortex and cerebellum in the setting of lamin B2 deficiency

作者：Coffinier Catherine^*; Chang Sandy Y; Nobumori Chika; Tu Yiping; Farber Emily A; Toth Julia I; Fong Loren G; Young Stephen G

来源：Proceedings of the National Academy of Sciences, 2010, 107(11): 5076-5081.

DOI：10.1073/pnas.0908790107

• brain
• lissencephaly
• neuronal migration
• nuclear envelope
• nuclear lamina

Nuclear lamins are components of the nuclear lamina, a structural scaffolding for the cell nucleus. Defects in lamins A and C cause an array of human diseases, including muscular dystrophy, lipodystrophy, and progeria, but no diseases have been linked to the loss of lamins B1 or B2. To explore the functional relevance of lamin B2, we generated lamin B2-deficient mice and found that they have severe brain abnormalities resembling lissencephaly, with abnormal layering of neurons in the cerebral cortex and cerebellum. This neuronal layering abnormality is due to defective neuronal migration, a process that is dependent on the organized movement of the nucleus within the cell. These studies establish an essential function for lamin B2 in neuronal migration and brain development.

• 出版日期2010-3-16