脑皮质和小脑在核层蛋白 B2 缺乏症的情况下发育异常。
Abnormal development of the cerebral cortex and cerebellum in the setting of lamin B2 deficiency.
机构信息
Departments of Medicine and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
出版信息
Proc Natl Acad Sci U S A. 2010 Mar 16;107(11):5076-81. doi: 10.1073/pnas.0908790107. Epub 2010 Feb 9.
Abstract
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.
摘要
核纤层蛋白是核纤层的组成部分，核纤层是细胞核的结构支架。核纤层蛋白 A 和 C 的缺陷会导致一系列人类疾病，包括肌肉萎缩症、脂肪营养不良症和早衰症，但尚未发现 lamin B1 或 B2 的缺失与任何疾病有关。为了探究核纤层蛋白 B2 的功能相关性，我们生成了核纤层蛋白 B2 缺失的小鼠，并发现它们的大脑严重异常，类似于无脑回畸形，大脑皮层和小脑的神经元分层异常。这种神经元分层异常是由于神经元迁移缺陷所致，该过程依赖于细胞核在细胞内的有组织运动。这些研究确立了核纤层蛋白 B2 在神经元迁移和大脑发育中的重要功能。
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