Department of Oral Biology, Creighton University School of Dentistry Omaha, NE,USA.
Mouse Genome Engineering Core Facility, Department of Genetics Cell Biology and Anatomy, University of Nebraska Medical Center Omaha, NE, USA.
Front Cell Neurosci. 2015 Feb 23;9:52. doi: 10.3389/fncel.2015.00052. eCollection 2015.
Retinoblastoma 1 (Rb1) is an essential gene regulating cellular proliferation, differentiation, and homeostasis. To exert these functions, Rb1 is recruited and physically interacts with a growing variety of signaling pathways. While Rb1 does not appear to be ubiquitously expressed, its expression has been confirmed in a variety of hematopoietic and neuronal-derived cells, including the inner ear hair cells (HCs). Studies in transgenic mice demonstrate that complete germline or conditional Rb1 deletion leads to abnormal cell proliferation, followed by massive apoptosis; making it difficult to fully address Rb1's biochemical activities. To overcome these limitations, we developed a tetracycline-inducible TetO-CB-myc6-Rb1 (CBRb) mouse model to achieve transient and inducible dominant-negative (DN) inhibition of the endogenous RB1 protein. Our strategy involved fusing the Rb1 gene to the lysosomal protease pre-procathepsin B (CB), thus allowing for further routing of the DN-CBRb fusion protein and its interacting complexes for proteolytic degradation. Moreover, reversibility of the system is achieved upon suppression of doxycycline (Dox) administration. Preliminary characterization of DN-CBRb mice bred to a ubiquitous rtTA mouse line demonstrated a significant inhibition of the endogenous RB1 protein in the inner ear and in a number of other organs where RB1 is expressed. Examination of the postnatal (P) DN-CBRb mice inner ear at P10 and P28 showed the presence of supernumerary inner HCs (IHCs) in the lower turns of the cochleae, which corresponds to the described expression domain of the endogenous Rb1 gene. Selective and reversible suppression of gene expression is both an experimental tool for defining function and a potential means to medical therapy. Given the limitations associated with Rb1-null mice lethality, this model provides a valuable resource for understanding RB1 activity, relative contribution to HC regeneration and its potential therapeutic application.
视网膜母细胞瘤 1 基因(Rb1)是调节细胞增殖、分化和内稳态的必需基因。为了发挥这些功能,Rb1 被招募并与不断增加的各种信号通路发生物理相互作用。虽然 Rb1 似乎不是普遍表达的,但它的表达已在各种造血和神经元来源的细胞中得到证实,包括内耳毛细胞(HCs)。在转基因小鼠中的研究表明,完全种系或条件性 Rb1 缺失会导致异常的细胞增殖,随后发生大量细胞凋亡;这使得难以充分解决 Rb1 的生化活性。为了克服这些限制,我们开发了一种四环素诱导的 TetO-CB-myc6-Rb1(CBRb)小鼠模型,以实现内源性 RB1 蛋白的瞬时和诱导性显性负(DN)抑制。我们的策略涉及将 Rb1 基因与溶酶体蛋白酶前蛋白水解酶 B(CB)融合,从而允许进一步对 DN-CBRb 融合蛋白及其相互作用复合物进行路由,以进行蛋白水解降解。此外,在抑制多西环素(Dox)给药后,系统可恢复可逆性。将 DN-CBRb 小鼠与普遍存在的 rtTA 小鼠系杂交进行初步表征,结果表明在内耳和许多其他表达 RB1 的器官中,内源性 RB1 蛋白受到显著抑制。在 P10 和 P28 时检查 DN-CBRb 小鼠内耳,发现耳蜗较低转位处存在多余的内毛细胞(IHCs),这与内源性 Rb1 基因的描述表达域相对应。基因表达的选择性和可逆性抑制既是定义功能的实验工具,也是医学治疗的潜在手段。鉴于 Rb1 缺失型小鼠致死性相关的限制,该模型为理解 RB1 活性、对 HC 再生的相对贡献及其潜在的治疗应用提供了有价值的资源。