Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Frederick National Laboratory for Cancer Research, Leidos Biomedical Research, Inc., Frederick, MD, USA.
Sci Rep. 2023 Jan 6;13(1):270. doi: 10.1038/s41598-023-27531-5.
LIM domain-binding 3 (LDB3) is a member of the Enigma family of PDZ-LIM proteins. LDB3 has been reported as a striated muscle-specific Z-band alternatively spliced protein that plays an important role in mechanosensory actin cytoskeleton remodeling. This study shows that LDB3 is broadly expressed in the central and peripheral nervous system of human and mouse. LDB3 is predominantly expressed in the adult stages compared to early development and at a significantly higher level in the spinal cord than in the brain. As in skeletal muscle and heart, LDB3 is extensively alternatively spliced in the neurons. Three novel splice isoforms were identified suggesting splicing-dependent regulation of LDB3 expression in the nervous system. Expression of LDB3 in the motor cortex, cerebellum, spinal motor neuron, peripheral nerve, and neuromuscular junction in addition to skeletal muscle indicates important roles for this PDZ-LIM family protein in motor planning and execution. Moreover, expression in the hippocampal neurons suggests roles for LDB3 in learning and memory. LDB3 interactors filamin C and myotilin are also expressed in the spinal motor neuron, nerve, and neuromuscular junction, thereby providing the basis for neurogenic manifestations in myopathies associated with mutations in these so-called muscle proteins.
LIM 结构域结合蛋白 3(LDB3)是 PDZ-LIM 蛋白家族的 Enigma 家族成员。已有报道称,LDB3 是一种横纹肌特异性 Z 带选择性剪接蛋白,在机械敏感肌动蛋白细胞骨架重塑中发挥重要作用。本研究表明,LDB3 在人和小鼠的中枢和周围神经系统中广泛表达。与早期发育相比,LDB3 在成年期的表达更为丰富,在脊髓中的表达水平明显高于大脑。与骨骼肌和心脏一样,LDB3 在神经元中广泛进行选择性剪接。鉴定出三种新的剪接异构体,提示 LDB3 在神经系统中的表达受剪接调控。LDB3 在运动皮层、小脑、脊髓运动神经元、周围神经和运动终板的表达,除了骨骼肌之外,表明该 PDZ-LIM 家族蛋白在运动规划和执行中具有重要作用。此外,在海马神经元中的表达表明 LDB3 在学习和记忆中发挥作用。LDB3 的相互作用蛋白肌联蛋白 C 和肌球蛋白也在脊髓运动神经元、神经和运动终板中表达,从而为与这些所谓的肌肉蛋白突变相关的肌病中的神经源性表现提供了基础。