PUBLICATION

Scleraxis genes are required for normal musculoskeletal development and for rib growth and mineralization in zebrafish

Authors
Kague, E., Hughes, S.M., A Lawrence, E., Cross, S., Martin-Silverstone, E., Hammond, C.L., Hinits, Y.
ID
ZDB-PUB-190518-9
Date
2019
Source
FASEB journal : official publication of the Federation of American Societies for Experimental Biology   33(8): 9116-9130 (Journal)
Registered Authors
Hammond, Chrissy, Hinits, Yaniv, Hughes, Simon M.
Keywords
craniofacial, muscle, ribs, tendon, zebrafish
MeSH Terms
  • Animals
  • Animals, Genetically Modified
  • Basic Helix-Loop-Helix Transcription Factors/genetics*
  • Bone Development/genetics
  • Calcification, Physiologic/genetics
  • Gene Expression Regulation, Developmental
  • Musculoskeletal Development/genetics*
  • Mutation
  • Ribs/abnormalities
  • Ribs/growth & development
  • Ribs/metabolism
  • Tendons/abnormalities
  • Tendons/growth & development
  • Tendons/metabolism
  • Zebrafish/genetics*
  • Zebrafish/growth & development*
  • Zebrafish/metabolism
  • Zebrafish Proteins/genetics*
PubMed
31100023 Full text @ FASEB J.
Abstract
Tendons are an essential part of the musculoskeletal system, connecting muscle and skeletal elements to enable force generation. The transcription factor scleraxis marks vertebrate tendons from early specification. Scleraxis-null mice are viable and have a range of tendon and bone defects in the trunk and limbs but no described cranial phenotype. We report the expression of zebrafish scleraxis orthologs: scleraxis homolog (scx)-a and scxb in cranial and intramuscular tendons and in other skeletal elements. Single mutants for either scxa or scxb, generated by clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9), are viable and fertile as adult fish. Although scxb mutants show no obvious phenotype, scxa mutant embryos have defects in cranial tendon maturation and muscle misalignment. Mutation of both scleraxis genes results in more severe defects in cranial tendon differentiation, muscle and cartilage dysmorphogenesis and paralysis, and lethality by 2-5 wk, which indicates an essential function of scleraxis for craniofacial development. At juvenile and adult stages, ribs in scxa mutants fail to mineralize and/or are small and heavily fractured. Scxa mutants also have smaller muscle volume, abnormal swim movement, and defects in bone growth and composition. Scleraxis function is therefore essential for normal craniofacial form and function and vital for fish development.-Kague, E., Hughes, S. M., Lawrence, E. A., Cross, S., Martin-Silverstone, E., Hammond, C. L., Hinits, Y. Scleraxis genes are required for normal musculoskeletal development and for rib growth and mineralization in zebrafish.
Genes / Markers
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Human Disease / Model
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