Mapk7 deletion in chondrocytes causes vertebral defects by reducing MEF2C/PTEN/AKT signaling

Genes and Diseases - Tập 11 - Trang 964-977 - 2024
Chengzhi Wu1, Hengyu Liu1, Dongmei Zhong2, Xiaoming Yang3, Zhiheng Liao1, Yuyu Chen1, Shun Zhang1, Deying Su4, Baolin Zhang1, Chuan Li5, Liru Tian5, Caixia Xu5, Peiqiang Su1
1Guangdong Provincial Key Laboratory of Orthopedics and Traumatology, Department of Spine Surgery, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, China
2Precision Medicine Institute, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, China
3Department of Orthopedics, Renmin Hospital of Wuhan University, Wuhan, Hubei 430060, China
4Guangdong Provincial Key Laboratory of Proteomics and State Key Laboratory of Organ Failure Research, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong 510515, China
5Research Center for Translational Medicine, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, China

Tài liệu tham khảo

Scaal, 2016, Early development of the vertebral column, Semin Cell Dev Biol, 49, 83, 10.1016/j.semcdb.2015.11.003 Williams, 2019, Development of the axial skeleton and intervertebral disc, Curr Top Dev Biol, 133, 49, 10.1016/bs.ctdb.2018.11.018 Mackie, 2008, Endochondral ossification: how cartilage is converted into bone in the developing skeleton, Int J Biochem Cell Biol, 40, 46, 10.1016/j.biocel.2007.06.009 Long, 2013, Development of the endochondral skeleton, Cold Spring Harbor Perspect Biol, 5, 10.1101/cshperspect.a008334 Kronenberg, 2003, Developmental regulation of the growth plate, Nature, 423, 332, 10.1038/nature01657 Yang, 2014, Osteogenic fate of hypertrophic chondrocytes, Cell Res, 24, 1266, 10.1038/cr.2014.111 Zhou, 2014, Chondrocytes transdifferentiate into osteoblasts in endochondral bone during development, postnatal growth and fracture healing in mice, PLoS Genet, 10, 10.1371/journal.pgen.1004820 Yang, 2014, Hypertrophic chondrocytes can become osteoblasts and osteocytes in endochondral bone formation, Proc Natl Acad Sci U S A, 111, 12097, 10.1073/pnas.1302703111 Hallett, 2019, Growth plate chondrocytes: skeletal development, growth and beyond, Int J Mol Sci, 20, 6009, 10.3390/ijms20236009 Takeda, 2001, Continuous expression of Cbfa1 in nonhypertrophic chondrocytes uncovers its ability to induce hypertrophic chondrocyte differentiation and partially rescues Cbfa1-deficient mice, Genes Dev, 15, 467, 10.1101/gad.845101 Nithianandarajah-Jones, 2012, ERK5: structure, regulation and function, Cell Signal, 24, 2187, 10.1016/j.cellsig.2012.07.007 Paudel, 2021, The MEK5/ERK5 pathway in health and disease, Int J Mol Sci, 22, 7594, 10.3390/ijms22147594 Zhou, 2018, Mutant MAPK7-induced idiopathic scoliosis is linked to impaired osteogenesis, Cell Physiol Biochem, 48, 880, 10.1159/000491956 Gao, 2017, Rare coding variants in MAPK7 predispose to adolescent idiopathic scoliosis, Hum Mutat, 38, 1500, 10.1002/humu.23296 Iezaki, 2018, The MAPK Erk5 is necessary for proper skeletogenesis involving a Smurf-Smad-Sox9 molecular axis, Development, 145 Yang, 2020, Conditional ablation of MAPK7 expression in chondrocytes impairs endochondral bone formation in limbs and adaptation of chondrocytes to hypoxia, Cell Biosci, 10, 103, 10.1186/s13578-020-00462-8 Horie, 2022, Erk5 in bone marrow mesenchymal stem cells regulates bone homeostasis by preventing osteogenesis in adulthood, Stem Cell, 40, 411, 10.1093/stmcls/sxac011 Hall, 2013, ADAM17 controls endochondral ossification by regulating terminal differentiation of chondrocytes, Mol Cell Biol, 33, 3077, 10.1128/MCB.00291-13 Rigueur, 2014, Whole-mount skeletal staining, Methods Mol Biol, 1130, 113, 10.1007/978-1-62703-989-5_9 Laws, 2004, Progression of kyphosis in mdx mice, J Appl Physiol (1985), 97, 1970, 10.1152/japplphysiol.01357.2003 Huang, 2007, DAVID Bioinformatics Resources: expanded annotation database and novel algorithms to better extract biology from large gene lists, Nucleic Acids Res, 35, W169, 10.1093/nar/gkm415 Ran, 2013, Genome engineering using the CRISPR-Cas9 system, Nat Protoc, 8, 2281, 10.1038/nprot.2013.143 Fleming, 2015, Building the backbone: the development and evolution of vertebral patterning, Development, 142, 1733, 10.1242/dev.118950 Ikegami, 2011, Sox9 sustains chondrocyte survival and hypertrophy in part through Pik3ca-Akt pathways, Development, 138, 1507, 10.1242/dev.057802 Worby, 2014, Pten, Annu Rev Biochem, 83, 641, 10.1146/annurev-biochem-082411-113907 Yang, 2008, PTEN deficiency causes dyschondroplasia in mice by enhanced hypoxia-inducible factor 1α signaling and endoplasmic reticulum stress, Development, 135, 3587, 10.1242/dev.028118 Kato, 1997, BMK1/ERK5 regulates serum-induced early gene expression through transcription factor MEF2C, EMBO J, 16, 7054, 10.1093/emboj/16.23.7054 Dy, 2012, Sox9 directs hypertrophic maturation and blocks osteoblast differentiation of growth plate chondrocytes, Dev Cell, 22, 597, 10.1016/j.devcel.2011.12.024 Arnold, 2007, MEF2C transcription factor controls chondrocyte hypertrophy and bone development, Dev Cell, 12, 377, 10.1016/j.devcel.2007.02.004 Scheuermann, 1977, The classic: kyphosis dorsalis juvenilis, Clin Orthop Relat Res, 5 Lowe, 2007, Evidence based medicine: analysis of Scheuermann kyphosis, Spine, 32, S115, 10.1097/BRS.0b013e3181354501 Bradford, 1976, Scheuermann's kyphosis: a form of osteoporosis?, Clin Orthop Relat Res, 118, 10 Damborg, 2006, Prevalence, concordance, and heritability of Scheuermann kyphosis based on a study of twins, J Bone Joint Surg Am, 88, 2133 Palazzo, 2014, Scheuermann's disease: an update, Jt Bone Spine, 81, 209, 10.1016/j.jbspin.2013.11.012 Ueta, 2001, Skeletal malformations caused by overexpression of Cbfa1 or its dominant negative form in chondrocytes, J Cell Biol, 153, 87, 10.1083/jcb.153.1.87 Ulici, 2008, The PI3K pathway regulates endochondral bone growth through control of hypertrophic chondrocyte differentiation, BMC Dev Biol, 8, 40, 10.1186/1471-213X-8-40 Hsieh, 2009, Conditional loss of PTEN leads to skeletal abnormalities and lipoma formation, Mol Carcinog, 48, 545, 10.1002/mc.20491 Kim, 2020, A RUNX2 stabilization pathway mediates physiologic and pathologic bone formation, Nat Commun, 11, 2289, 10.1038/s41467-020-16038-6 Yoshida, 2004, Runx2 and Runx3 are essential for chondrocyte maturation, and Runx2 regulates limb growth through induction of Indian hedgehog, Genes Dev, 18, 952, 10.1101/gad.1174704 Fujita, 2004, Runx2 induces osteoblast and chondrocyte differentiation and enhances their migration by coupling with PI3K-Akt signaling, J Cell Biol, 166, 85, 10.1083/jcb.200401138 Salhotra, 2020, Mechanisms of bone development and repair, Nat Rev Mol Cell Biol, 21, 696, 10.1038/s41580-020-00279-w Loveridge, 2017, Analysis of Nkx3.1:Cre-driven Erk5 deletion reveals a profound spinal deformity which is linked to increased osteoclast activity, Sci Rep, 7, 10.1038/s41598-017-13346-8 Shu, 2021, Tracing the skeletal progenitor transition during postnatal bone formation, Cell Stem Cell, 28, 2122, 10.1016/j.stem.2021.08.010 Ono, 2014, A subset of chondrogenic cells provides early mesenchymal progenitors in growing bones, Nat Cell Biol, 16, 1157, 10.1038/ncb3067 Mizuhashi, 2018, Resting zone of the growth plate houses a unique class of skeletal stem cells, Nature, 563, 254, 10.1038/s41586-018-0662-5 Chan, 2015, Identification and specification of the mouse skeletal stem cell, Cell, 160, 285, 10.1016/j.cell.2014.12.002 Bobick, 2010, The ERK5 and ERK1/2 signaling pathways play opposing regulatory roles during chondrogenesis of adult human bone marrow-derived multipotent progenitor cells, J Cell Physiol, 224, 178, 10.1002/jcp.22120 Stokes, 2002, Enlargement of growth plate chondrocytes modulated by sustained mechanical loading, J Bone Joint Surg Am, 84, 1842, 10.2106/00004623-200210000-00016 Lee, 2019, Mechanical stimulation of growth plate chondrocytes: previous approaches and future directions, Exp Mech, 59, 1261, 10.1007/s11340-018-0424-1