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首页> 外文期刊>Nature >Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation
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Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation

机译：慢感光受体失活患者中RGS9或其锚蛋白R9AP的缺陷

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The RGS proteins are GTPase activating proteins that accelerate the deactivation of G proteins in a variety of signalling pathways in eukaryotes. RGS9 deactivates the G proteins (transducins) in the rod and cone phototransduction cascades. It is anchored to photoreceptor membranes by the transmembrane protein R9AP (RGS9 anchor protein), which enhances RGS9 activity up to 70-fold. If RGS9 is absent or unable to interact with R9AP, there is a substantial delay in the recovery from light responses in mice. We identified five unrelated patients with recessive mutations in the genes encoding either RGS9 or R9AP who reported difficulty adapting to sudden changes in luminance levels mediated by cones. Standard visual acuity was normal to moderately subnormal, but the ability to see moving objects, especially with low-contrast, was severely reduced despite full visual fields; we have termed this condition bradyopsia. To our knowledge, these patients represent the first identified humans with a phenotype associated with reduced RGS activity in any organ.
机译：RGS蛋白是GTPase激活蛋白，可在真核生物的多种信号传导途径中加速G蛋白的失活。 RGS9使杆和锥光转导级联反应中的G蛋白（转导蛋白）失活。它通过跨膜蛋白R9AP（RGS9锚定蛋白）锚定在感光膜上，从而将RGS9的活性提高了70倍。如果不存在RGS9或无法与R9AP相互作用，则小鼠光反应的恢复会大大延迟。我们鉴定了五名无关的患者，这些患者在编码RGS9或R9AP的基因中具有隐性突变，他们报告难以适应视锥细胞介导的亮度水平的突然变化。标准视力是正常的至中度以下的正常，但是尽管视野很宽，但看到运动物体（特别是低对比度）的能力却大大降低了；我们将这种情况称为慢视。据我们所知，这些患者代表了最早鉴定出具有与任何器官中RGS活性降低相关的表型的人类。

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