• Editorial
    • Genes & Diseases,Volume 1, Issue 2,2014, Pages 149-161
    • The versatile functions of Sox9 in development, stem cells, and human diseases
    • Alice Jo1, Sahitya Denduluri2, Bosi Zhang3, Zhongliang Wang1,4, Liangjun Yin2,5, Zhengjian Yan3,5, Richard Kang1, Lewis L. Shi2, James Mok3, Michael J. Lee6, Rex C. Haydon7
    • 1.Molecular Oncology Laboratory, Department of Orthopaedic Surgery and Rehabilitation Medicine, The University of Chicago Medical Center, Chicago, IL 60637, USA;2.Molecular Oncology Laboratory, Department of Orthopaedic Surgery and Rehabilitation Medicine, The University of Chicago Medical Center, Chicago, IL 60638, USA;3.Molecular Oncology Laboratory, Department of Orthopaedic Surgery and Rehabilitation Medicine, The University of Chicago Medical Center, Chicago, IL 60639, USA;4.Departments of Orthopaedic Surgery, The Affiliated Hospitals of Chongqing Medical University, Chongqing 400046, China;5.Departments of Orthopaedic Surgery, The Affiliated Hospitals of Chongqing Medical University, Ch;6.Molecular Oncology Laboratory, Department of Orthopaedic Surgery and Rehabilitation Medicine, The University of Chicago Medical Center, Chicago, IL 60640, USA;7.Molecular Oncology Laboratory, Department of Orthopaedic Surgery and Rehabilitation Medicine, The University of Chicago Medical Center, Chicago, IL 60641, USA
    Abstract
    The transcription factor Sox9 was first discovered in patients with campomelic dysplasia, a haploinsufficiency disorder with skeletal deformities caused by dysregulation of Sox9 expression during chondrogenesis. Since then, its role as a cell fate determiner during embryonic development has been well characterized; Sox9 expression differentiates cells derived from all three germ layers into a large variety of specialized tissues and organs. However, recent data has shown that ectoderm- and endoderm-derived tissues continue to express Sox9 in mature organs and stem cell pools, suggesting its role in cell maintenance and specification during adult life. The versatility of Sox9 may be explained by a combination of post-transcriptional modifications, binding partners, and the tissue type in which it is expressed. Considering its importance during both development and adult life, it follows that dysregulation of Sox9 has been implicated in various congenital and acquired diseases, including fibrosis and cancer. This review provides a summary of the various roles of Sox9 in cell fate specification, stem cell biology, and related human diseases. Ultimately, understanding the mechanisms that regulate Sox9 will be crucial for developing effective therapies to treat disease caused by stem cell dysregulation or even reverse organ damage.
    Keywords
    Development; Diseases; Sox9; Stem cells; Transcription factor
    Copyright © 2014 Chongqing Medical University. Published by Elsevier B.V

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    Alice Jo,Sahitya Denduluri,Bosi Zhang,Zhongliang Wang,Liangjun Yin,Zhengjian Yan,Richard Kang,Lewis L. Shi,James Mok,Michael J. Lee,Rex C. Haydon.The versatile functions of Sox9 in development, stem cells, and human diseases[J].Genes & Diseases,2014;1(2):149-161.