Wang Xuelin, Kweon Junghun, Larson Stephanie, Chen Lihsia
Department of Genetics, Cell Biology, and Development, The Developmental Biology Center, University of Minnesota, 6-160 Jackson Hall, SE Minneapolis, MN 55455, USA.
Dev Biol. 2005 Aug 15;284(2):273-91. doi: 10.1016/j.ydbio.2005.05.020.
The L1 family of cell adhesion molecules (L1CAMs) is important for neural development. Mutations in one of the human L1CAM genes, L1, can result in several neurological syndromes, the symptoms of which are variably penetrant. The physiological cause of these symptoms, collectively termed CRASH, is not clear. Caenorhabditis elegans animals genetically null for the L1CAM homologue LAD-1, exhibit variably penetrant pleiotropic phenotypes that are similar to the CRASH symptoms; thus the C. elegans lad-1 mutant provides an excellent model system to study how disruption of L1 leads to these abnormalities. These phenotypes include uncoordinated movements, variable embryonic lethality, and abnormal neuronal distribution and axon trajectories. Our analysis revealed that many of these phenotypes are likely a result of tissue detachment.
细胞粘附分子L1家族（L1CAMs）对神经发育很重要。人类L1CAM基因之一L1的突变可导致多种神经综合征，其症状的外显率各不相同。这些统称为CRASH的症状的生理原因尚不清楚。秀丽隐杆线虫中L1CAM同源物LAD-1基因完全缺失的动物表现出与CRASH症状相似的多效性表型，且外显率各不相同；因此，秀丽隐杆线虫lad-1突变体提供了一个很好的模型系统，用于研究L1的破坏如何导致这些异常。这些表型包括运动不协调、胚胎致死率可变以及神经元分布和轴突轨迹异常。我们的分析表明，这些表型中的许多可能是组织分离的结果。
