German P, Bai S, Liu X-D, Sun M, Zhou L, Kalra S, Zhang X, Minelli R, Scott K L, Mills G B, Jonasch E, Ding Z
Department of Genitourinary Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Oncogene. 2016 Sep 22;35(38):4973-80. doi: 10.1038/onc.2016.40. Epub 2016 Mar 14.
Loss of von Hippel Lindau (VHL) protein function is a key driver of VHL diseases, including sporadic and inherited clear cell renal cell carcinoma. Modulation of the proteostasis of VHL, especially missense point-mutated VHL, is a promising approach to augmenting VHL levels and function. VHL proteostasis is regulated by multiple mechanisms including folding, chaperone binding, complex formation and phosphorylation. Nevertheless, many details underlying the regulations of VHL proteostasis are unknown. VHL is expressed as two variants, VHL30 and VHL19. Furthermore, the long-form variant of VHL was often detected as multiple bands by western blotting. However, how these multiple species of VHL are generated and whether the process regulates VHL proteostasis and function are unknown. We hypothesized that the two major species are generated by VHL protein cleavage, and the cleavage regulates VHL proteostasis and subsequent function. We characterized VHL species using genetical and pharmacological approaches and showed that VHL was first cleaved at the N-terminus by chymotrypsin C before being directed for proteasomal degradation. Casein kinase 2-mediated phosphorylation at VHL N-terminus was required for the cleavage. Furthermore, inhibition of cleavage stabilized VHL protein and thereby promoted HIF downregulation. Our study reveals a novel mechanism regulating VHL proteostasis and function, which is significant for identifying new drug targets and developing new therapeutic approaches targeting VHL deficiency in VHL diseases.
冯·希佩尔-林道(VHL)蛋白功能丧失是VHL疾病的关键驱动因素,包括散发性和遗传性透明细胞肾细胞癌。调节VHL的蛋白质稳态,尤其是错义点突变的VHL,是提高VHL水平和功能的一种有前景的方法。VHL蛋白质稳态受多种机制调节,包括折叠、伴侣蛋白结合、复合物形成和磷酸化。然而,VHL蛋白质稳态调节的许多细节尚不清楚。VHL以两种变体VHL30和VHL19的形式表达。此外,通过蛋白质印迹法经常检测到VHL的长形式变体为多条条带。然而,这些多种形式的VHL是如何产生的,以及该过程是否调节VHL蛋白质稳态和功能尚不清楚。我们假设这两种主要形式是由VHL蛋白裂解产生的,并且这种裂解调节VHL蛋白质稳态和随后的功能。我们使用遗传学和药理学方法对VHL形式进行了表征,结果表明VHL首先在N端被胰凝乳蛋白酶C裂解,然后被导向蛋白酶体降解。VHL N端酪蛋白激酶2介导的磷酸化是裂解所必需的。此外,抑制裂解可稳定VHL蛋白,从而促进缺氧诱导因子(HIF)的下调。我们的研究揭示了一种调节VHL蛋白质稳态和功能的新机制,这对于识别新的药物靶点和开发针对VHL疾病中VHL缺陷的新治疗方法具有重要意义。