Department of Life Sciences, New York Institute of Technology, Old Westbury, NY 11568-8000, USA.
Int J Mol Sci. 2018 Jan 12;19(1):206. doi: 10.3390/ijms19010206.
The gene encodes a small nuclear protein (~9.6 kDa) that does not belong to any known family. Its genomic organization consists of three exons interspersed by two introns and it is highly homologous across vertebrate species. Promoter analyses revealed that its expression is regulated by the AP family of transcription factors, especially c-Fos, Fra-2 and JunD. is predominantly expressed in the major tissues of the musculoskeletal system: bone, cartilage, skeletal muscle and tendon. Its expression has been associated with normal embryonic development, postnatal growth, exercise, and regeneration of bone and skeletal muscle. Moreover, its expression has also been detected in various musculoskeletal pathologies, including arthritis, Duchenne muscular dystrophy, other skeletal muscle myopathies, clubfoot and diabetes associated muscle pathology. In vitro and in vivo functional perturbation revealed that is a key regulatory molecule in myogenic and chondrogenic lineages. This comprehensive review summarizes our current knowledge of and proposes that it is a new developmentally regulated pan-musculoskeletal marker as well as a key regulatory protein for cell differentiation and tissue growth.
该基因编码一种小型核蛋白（~9.6 kDa），不属于任何已知家族。其基因组组织由三个外显子组成，由两个内含子穿插，在脊椎动物物种中高度同源。启动子分析表明，其表达受 AP 家族转录因子调控，特别是 c-Fos、Fra-2 和 JunD。在骨骼肌肉系统的主要组织中表达丰富：骨、软骨、骨骼肌和肌腱。其表达与正常胚胎发育、出生后生长、运动以及骨和骨骼肌的再生有关。此外，其表达也在各种骨骼肌肉疾病中被检测到，包括关节炎、杜氏肌营养不良症、其他骨骼肌肌病、马蹄足和糖尿病相关肌肉病理学。体外和体内功能干扰表明，是成肌和软骨谱系中的关键调节分子。这篇综合综述总结了我们目前对的了解，并提出它是一种新的发育调控的泛骨骼肌肉标志物，也是细胞分化和组织生长的关键调节蛋白。
