Scleraxis is required for maturation of tissue domains for proper integration of the musculoskeletal system

Sci Rep. 2017 Mar 22:7:45010. doi: 10.1038/srep45010.

Abstract

Scleraxis (Scx) is a basic helix-loop-helix transcription factor that is expressed persistently in tendons/ligaments, but transiently in entheseal cartilage. In this study, we generated a novel ScxCre knock-in (KI) allele, by in-frame replacement of most of Scx exon 1 with Cre recombinase (Cre), to drive Cre expression using Scx promoter and to inactivate the endogenous Scx. Reflecting the intensity and duration of endogenous expression, Cre-mediated excision occurs in tendinous and ligamentous tissues persistently expressing Scx. Expression of tenomodulin, a marker of mature tenocytes and ligamentocytes, was almost absent in tendons and ligaments of ScxCre/Cre KI mice lacking Scx to indicate defective maturation. In homozygotes, the transiently Scx-expressing entheseal regions such as the rib cage, patella cartilage, and calcaneus were small and defective and cartilaginous tuberosity was missing. Decreased Sox9 expression and phosphorylation of Smad1/5 and Smad3 were also observed in the developing entheseal cartilage, patella, and deltoid tuberosity of ScxCre/Cre KI mice. These results highlighted the functional importance of both transient and persistent expression domains of Scx for proper integration of the musculoskeletal components.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Basic Helix-Loop-Helix Transcription Factors / genetics*
  • Basic Helix-Loop-Helix Transcription Factors / metabolism
  • Bone Diseases, Developmental / genetics
  • Bone Diseases, Developmental / pathology
  • Cartilage / abnormalities
  • Cartilage / metabolism
  • Gene Expression Regulation, Developmental
  • Gene Order
  • Gene Targeting
  • Genes, Reporter
  • Genetic Loci
  • Homologous Recombination
  • Ligaments / abnormalities
  • Ligaments / growth & development
  • Ligaments / metabolism
  • Mice
  • Mice, Knockout
  • Musculoskeletal Development / genetics*
  • Phosphorylation
  • SOX9 Transcription Factor / genetics
  • Smad Proteins / genetics
  • Smad Proteins / metabolism
  • Tendons / abnormalities
  • Tendons / growth & development
  • Tendons / metabolism

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • SOX9 Transcription Factor
  • Scx protein, mouse
  • Smad Proteins
  • Sox9 protein, mouse