Department of Pathology, University of Alabama at Birmingham School of Medicine, Birmingham, Alabama, United States of America.
Department of Metabolism & Endocrinology, Hunan provincial Key Laboratory of Metabolic Bone Diseases, National Clinical Research Center for Metabolic Diseases, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
PLoS Genet. 2021 Jan 21;17(1):e1009233. doi: 10.1371/journal.pgen.1009233. eCollection 2021 Jan.
Runx1 is highly expressed in osteoblasts, however, its function in osteogenesis is unclear. We generated mesenchymal progenitor-specific (Runx1f/fTwist2-Cre) and osteoblast-specific (Runx1f/fCol1α1-Cre) conditional knockout (Runx1 CKO) mice. The mutant CKO mice with normal skeletal development displayed a severe osteoporosis phenotype at postnatal and adult stages. Runx1 CKO resulted in decreased osteogenesis and increased adipogenesis. RNA-sequencing analysis, Western blot, and qPCR validation of Runx1 CKO samples showed that Runx1 regulates BMP signaling pathway and Wnt/β-catenin signaling pathway. ChIP assay revealed direct binding of Runx1 to the promoter regions of Bmp7, Alk3, and Atf4, and promoter mapping demonstrated that Runx1 upregulates their promoter activity through the binding regions. Bmp7 overexpression rescued Alk3, Runx2, and Atf4 expression in Runx1-deficient BMSCs. Runx2 expression was decreased while Runx1 was not changed in Alk3 deficient osteoblasts. Atf4 overexpression in Runx1-deficient BMSCs did not rescue expression of Runx1, Bmp7, and Alk3. Smad1/5/8 activity was vitally reduced in Runx1 CKO cells, indicating Runx1 positively regulates the Bmp7/Alk3/Smad1/5/8/Runx2/ATF4 signaling pathway. Notably, Runx1 overexpression in Runx2-/- osteoblasts rescued expression of Atf4, OCN, and ALP to compensate Runx2 function. Runx1 CKO mice at various osteoblast differentiation stages reduced Wnt signaling and caused high expression of C/ebpα and Pparγ and largely increased adipogenesis. Co-culture of Runx1-deficient and wild-type cells demonstrated that Runx1 regulates osteoblast-adipocyte lineage commitment both cell-autonomously and non-autonomously. Notably, Runx1 overexpression rescued bone loss in OVX-induced osteoporosis. This study focused on the role of Runx1 in different cell populations with regards to BMP and Wnt signaling pathways and in the interacting network underlying bone homeostasis as well as adipogenesis, and has provided new insight and advancement of knowledge in skeletal development. Collectively, Runx1 maintains adult bone homeostasis from bone loss though up-regulating Bmp7/Alk3/Smad1/5/8/Runx2/ATF4 and WNT/β-Catenin signaling pathways, and targeting Runx1 potentially leads to novel therapeutics for osteoporosis.
Runx1 在成骨细胞中高度表达,但其在成骨中的功能尚不清楚。我们生成了间充质祖细胞特异性(Runx1f/fTwist2-Cre)和骨细胞特异性(Runx1f/fCol1α1-Cre)条件性敲除(Runx1 CKO)小鼠。具有正常骨骼发育的突变型 CKO 小鼠在出生后和成年阶段表现出严重的骨质疏松表型。Runx1 CKO 导致成骨减少和脂肪生成增加。Runx1 CKO 样本的 RNA 测序分析、Western blot 和 qPCR 验证表明,Runx1 调节 BMP 信号通路和 Wnt/β-catenin 信号通路。ChIP 测定显示 Runx1 直接结合到 Bmp7、Alk3 和 Atf4 的启动子区域,启动子作图表明 Runx1 通过结合区域上调它们的启动子活性。Bmp7 的过表达挽救了 Runx1 缺陷 BMSCs 中 Alk3、Runx2 和 Atf4 的表达。Alk3 缺陷成骨细胞中 Runx2 表达减少而 Runx1 不变。Runx1 缺陷 BMSCs 中转染 Atf4 不能挽救 Runx1、Bmp7 和 Alk3 的表达。Runx1 CKO 细胞中 Smad1/5/8 活性显著降低,表明 Runx1 正向调节 Bmp7/Alk3/Smad1/5/8/Runx2/ATF4 信号通路。值得注意的是,Runx1 在 Runx2-/-成骨细胞中的过表达挽救了 Atf4、OCN 和 ALP 的表达,以补偿 Runx2 的功能。处于各种成骨细胞分化阶段的 Runx1 CKO 小鼠降低了 Wnt 信号,导致 C/ebpα 和 Pparγ 的高表达,并大大增加了脂肪生成。Runx1 缺陷和野生型细胞的共培养表明,Runx1 调节成骨细胞-脂肪细胞谱系的决定,具有细胞自主性和非自主性。值得注意的是,Runx1 的过表达挽救了 OVX 诱导的骨质疏松症引起的骨丢失。本研究集中于 Runx1 在不同细胞群体中在 BMP 和 Wnt 信号通路以及骨稳态和脂肪生成的相互作用网络中的作用,并为骨骼发育提供了新的见解和知识进展。总之,Runx1 通过上调 Bmp7/Alk3/Smad1/5/8/Runx2/ATF4 和 WNT/β-catenin 信号通路,防止成骨细胞丢失,维持成年期骨骼稳态,并靶向 Runx1 可能为骨质疏松症提供新的治疗方法。