Institut Cochin, Université Paris Descartes, INSERM, CNRS UMR 8104, CHU Cochin, Paris, France.
Neurogenetics. 2010 May;11(2):251-5. doi: 10.1007/s10048-009-0224-y. Epub 2009 Oct 1.
We have identified a novel splice site mutation (IVS6-1G > A) in the disc-large homolog 3 (DLG3) gene, encoding the synapse-associated protein 102 (SAP102) in one out of 300 families with moderate to severe non-syndromic mental retardation. SAP102 is a member of the neuronal membrane-associated guanylate kinase protein subfamily comprising SAP97, postsynaptic density (PSD)95, and PSD93, which interacts with methyl-D-aspartate receptor and associated protein complexes at the postsynaptic density of excitatory synapses. DLG3 is the first mental retardation gene directly linked to glutamate receptor signalling and trafficking, increasingly recognised as a central mechanism in the regulation of synaptic formation and plasticity in brain and cognitive development.
我们在 300 个有中度至重度非综合征性智力低下的家庭中发现了一个新的连接酶 3（DLG3）基因剪接位点突变（IVS6-1G > A），该基因编码突触相关蛋白 102（SAP102）。SAP102 是神经元膜相关鸟苷酸激酶蛋白亚家族的成员，包括 SAP97、突触后密度（PSD）95 和 PSD93，与兴奋性突触后密度处的甲基-D-天冬氨酸受体和相关蛋白复合物相互作用。DLG3 是第一个与谷氨酸受体信号转导和运输直接相关的智力低下基因，越来越多的证据表明，它是大脑和认知发育中调节突触形成和可塑性的中心机制。
