In vivo loss of function study reveals the short stature homeobox-containing (shox) gene plays indispensable roles in early embryonic growth and bone formation in zebrafish.

摘要: Background Congenital loss of the SHOX gene is considered to be a genetic cause short stature phenotype in Turner syndrome and Leri-Weill dyschondrosteosis patients. Though expression initiates during early fetal development, little known about embryonic roles SHOX. The evolutionary conservation zebrafish shox convenience developmental stages for analyses make preferred model. Here, we characterized structure, expression, through loss-of-function approach. Results We found previously undiscovered Shox protein that has both homeodomain an OAR-domain zebrafish. transcript emerged segmentation period it increased later stages. predominant domains were mandibular arch, pectoral fin, anterior notochord, rhombencephalon, mesencephalon, suggesting involved bone neural development. Translational blockade mRNA by antisense morpholino oligo delayed growth, which was restored co-overexpression morpholino-resistant mRNA. At stages, impaired markedly calcification process vertebral column craniofacial bones. Conclusions Our data demonstrate evolutionarily conserved plays growth formation.