Mutations in GDI1 are responsible for X-linked non-specific mental retardation
Mutations in GDI1 are responsible for X-linked non-specific mental retardation
复制标题
DOI：
10.1038/487
复制
发表时间：
1998-06-01
期刊：
影响因子：
30.8
通讯作者：
Toniolo, D
中科院分区：
文献类型：
--
作者：
D'Adamo, P;Menegon, A;Toniolo, D
Rab GDP 解离抑制剂 (GDI) 是进化上保守的蛋白质，在通过分泌途径进行囊泡运输所需的 Rab GTP 酶的再循环中发挥着重要作用。我们在两个受 X 连锁非特异性智力低下影响的家族中发现了 GDI1 基因（编码 α GDI）的突变。其中一个突变导致非保守取代 (L92P)，从而减少 RAB3A 的结合和循环，第二个突变是无效突变。我们的结果表明，神经元的功能和发育改变可能是 GDI1 突变导致学习能力严重受损的原因，强调了其在人类智力和学习能力发展中的关键作用。
Rab GDP-dissociation inhibitors (GDI) are evolutionarily conserved proteins that play an essential role in the recycling of Rab GTPases required for vesicular transport through the secretory pathway We have found mutations in the GDI1 gene (which encodes alpha GDI) in two families affected with X-linked non-specific mental retardation. One of the mutations caused a non-conservative substitution (L92P) which reduced binding and recycling of RAB3A, the second was a null mutation. Our results show that both functional and developmental alterations in the neuron may account for the severe impairment of learning abilities as a consequence of mutations in GDI1, emphasizing its critical role in development of human intellectual and learning abilities.