Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Department of Otolaryngology-Head and Neck Surgery, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins Medical Institutions, Baltimore, MD, 21287, USA.
Nat Commun. 2020 Jan 16;11(1):333. doi: 10.1038/s41467-019-14085-2.
Cutaneous malignant melanoma is an aggressive cancer of melanocytes with a strong propensity to metastasize. We posit that melanoma cells acquire metastatic capability by adopting an embryonic-like phenotype, and that a lineage approach would uncover metastatic melanoma biology. Using a genetically engineered mouse model to generate a rich melanoblast transcriptome dataset, we identify melanoblast-specific genes whose expression contribute to metastatic competence and derive a 43-gene signature that predicts patient survival. We identify a melanoblast gene, KDELR3, whose loss impairs experimental metastasis. In contrast, KDELR1 deficiency enhances metastasis, providing the first example of different disease etiologies within the KDELR-family of retrograde transporters. We show that KDELR3 regulates the metastasis suppressor, KAI1, and report an interaction with the E3 ubiquitin-protein ligase gp78, a regulator of KAI1 degradation. Our work demonstrates that the melanoblast transcriptome can be mined to uncover targetable pathways for melanoma therapy.
皮肤恶性黑色素瘤是一种具有强烈转移倾向的黑素细胞侵袭性癌症。我们假设黑色素瘤细胞通过采用类似胚胎的表型获得转移能力,并且谱系方法将揭示转移性黑色素瘤生物学。使用基因工程小鼠模型生成丰富的黑素细胞转录组数据集,我们鉴定出与转移能力相关的黑素细胞特异性基因,并得出一个 43 个基因的特征,可预测患者的生存。我们鉴定出一个黑素细胞基因 KDELR3,其缺失会损害实验性转移。相比之下,KDELR1 的缺乏会增强转移,这为逆向转运蛋白 KDELR 家族内的不同疾病病因提供了第一个例子。我们表明 KDELR3 调节转移抑制因子 KAI1,并报告与 E3 泛素蛋白连接酶 gp78 相互作用,gp78 是 KAI1 降解的调节剂。我们的工作表明,可以从黑素细胞转录组中挖掘出可用于黑色素瘤治疗的靶向途径。