Burt Emma C, Towers Paula R, Sattelle David B
Centre for Haematology, Bart's and The London, Queen Mary's School of Medicine, Institute of Cell and Molecular Science, 4 Newark Street, London, E1 2AT, UK.
Invert Neurosci. 2006 Dec;6(4):145-59. doi: 10.1007/s10158-006-0027-x. Epub 2006 Sep 9.
Spinal muscular atrophy is a common neuromuscular disorder caused by mutations in the survival motor neuron (SMN) gene. In mammals, SMN is tightly associated with Gemin2. To gain further insight into the functions of SMN and Gemin2, we have cloned and sequenced smi-1 (Survival of Motor neuron-Interacting protein 1), a C. elegans homologue of the human Gemin2 gene. We show that the SMI-1 expression pattern and RNA interference phenotype show considerable overlap with that previously reported for SMN-1. Finally, we demonstrate that the SMN-1 and SMI-1 proteins directly interact. Having demonstrated the utility of the C. elegans genetic model for investigating genes encoding SMN-interacting proteins, we have undertaken a yeast two-hybrid screen of a C. elegans cDNA library to identify novel proteins that interact with SMN-1. We show the direct interaction of SMN-1 with nine novel proteins, several of which may be involved in RNA metabolism.
脊髓性肌萎缩症是一种常见的神经肌肉疾病，由存活运动神经元（SMN）基因突变引起。在哺乳动物中，SMN与Gemin2紧密相关。为了进一步深入了解SMN和Gemin2的功能，我们克隆并测序了smi-1（运动神经元相互作用蛋白1），它是人类Gemin2基因的秀丽隐杆线虫同源物。我们发现SMI-1的表达模式和RNA干扰表型与先前报道的SMN-1有相当大的重叠。最后，我们证明SMN-1和SMI-1蛋白直接相互作用。在证明了秀丽隐杆线虫遗传模型在研究编码与SMN相互作用蛋白的基因方面的实用性之后，我们对秀丽隐杆线虫cDNA文库进行了酵母双杂交筛选，以鉴定与SMN-1相互作用的新蛋白。我们展示了SMN-1与九种新蛋白的直接相互作用，其中几种可能参与RNA代谢。
